{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:13:44Z","timestamp":1791288824579,"version":"4.3.0"},"reference-count":211,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,1]]},"abstract":"<jats:p>Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterised by multiple neurofibromas, caf\u00e9 au lait spots, and Lisch nodules of the iris, with a variable clinical expression. The gene responsible for this condition, NF1, has been isolated by positional cloning. It spans over 350 kb of genomic DNA in chromosomal region 17q11.2 and encodes an mRNA of 11-13 kb containing at least 59 exons. NF1 is widely expressed in a variety of human and rat tissues. Four alternatively spliced NF1 transcripts have been identified. Three of these transcript isoforms (each with an extra exon: 9br, 23a, and 48a, respectively) show differential expression to some extent in various tissues, while the fourth isoform (2.9 kb in length) remains to be examined. The protein encoded by NF1, neurofibromin, has a domain homologous to the GTPase activating protein (GAP) family, and downregulates ras activity. The identification of somatic mutations in NF1 from tumour tissues strongly supports the speculation that NF1 is a member of the tumour suppressor gene family. Although the search for mutations in the gene has proved difficult, germline mutation analysis has shown that around 82% of all the fully characterised NF1 specific mutations so far predict severe truncation of neurofibromin. Further extensive studies are required to elucidate the gene function and the mutation spectrum. This should then facilitate the molecular diagnosis and the development of new therapy for the disease.<\/jats:p>","DOI":"10.1136\/jmg.33.1.2","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"2-17","source":"Crossref","is-referenced-by-count":279,"title":["Molecular genetics of neurofibromatosis type 1 (NF1)."],"prefix":"10.1136","volume":"33","author":[{"given":"M H","family":"Shen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P S","family":"Harper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Upadhyaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0147-0272(82)80016-0","article-title":"Neurofibromatosis: clinical heterogeneity","volume":"7","author":"Riccardi, V.M.","year":"1982","unstructured":"Riccardi VM. Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer 1982;7:1-34.","journal-title":"Curr Probl Cancer"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1749-6632.1986.tb48061.x","article-title":"The genetic aspects of neurofibromatosis","volume":"486","author":"Carey, J.C.; Baty, B.J.; Johnson, J.P.; Morrison, T.; Skolnick, M.; Kivlin, J.","year":"1986","unstructured":"Carey JC, Baty BJ, Johnson JP, Morrison T, Skolnick M, Kivlin J. The genetic aspects of neurofibromatosis. Ann NYAcad Sci 1986;486:45-56.","journal-title":"Ann NYAcad Sci"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1001\/archneur.1988.00520290115023","article-title":"NIH consensus development conference statement","volume":"45","author":"Stumpf, D.A.; Alksne, J.F.; Annegers, J.F.","year":"1988","unstructured":"Stumpf DA, Alksne JF, Annegers JF, et al. Neurofibromatosis. NIH consensus development conference statement. Arch Neurol 1988;45:575-8.","journal-title":"Arch Neurol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0092-8674(90)90253-B","article-title":"A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations","volume":"62","author":"Cawthon, R.M.; Weiss, R.; Xu, G.","year":"1990","unstructured":"Cawthon RM, Weiss R, Xu G, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990;62: 193-201.","journal-title":"Cell"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/0092-8674(90)90252-A","article-title":"Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus","volume":"62","author":"Viskochil, D.; Buchberg, A.M.; Xu, G.","year":"1990","unstructured":"Viskochil D, Buchberg AM, Xu G, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-92.","journal-title":"Cell"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1126\/science.2134734","article-title":"Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NFI patients","volume":"249","author":"Wallace, M.R.; Marchuk, D.A.; Anderson, L.B.","year":"1990","unstructured":"Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NFI patients. Science 1990;249:181-6.","journal-title":"Science"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/363515a0","article-title":"Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2","volume":"363","author":"Rouleau, G.A.; Merel, P.; Lutchman, M.","year":"1993","unstructured":"Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 1993; 363:515-21.","journal-title":"Nature"},{"key":"ref_8","first-page":"79","article-title":"A novel moesin-like, ezrin-like, radixin-like gene is a candidate for neurofibromatosis-2 tumor suppressor","volume":"72","author":"Trofatter, J.A.; MacCollin, M.M.; Rutter, J.L.","year":"1993","unstructured":"Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-like, ezrin-like, radixin-like gene is a candidate for neurofibromatosis-2 tumor suppressor. Cell 1993;72: 79 1-800.","journal-title":"Cell"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/0190-9622(90)70306-3","volume":"23","author":"Trattner, A.; David, M.; Hoda, K.E.; Bendavid, E.; Sandbank, M.","year":"1990","unstructured":"Trattner A, David M, Hoda KE, Bendavid E, Sandbank M. Segment neurofibromatosis. J7 Am Acad Dermatol 1990;23:866-9.","journal-title":"Segment neurofibromatosis. J7 Am Acad Dermatol"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/adc.42.223.303","article-title":"Pulmonary stenosis, cafe-au-lait spots, and dull intelligence","volume":"42","author":"Watson, G.H.","year":"1967","unstructured":"Watson GH. Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Arch Dis Child 1967;42:303-7.","journal-title":"Arch Dis Child"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.24.1.9","article-title":"Noonan syndrome","volume":"24","author":"Allanson, J.E.","year":"1987","unstructured":"Allanson JE. Noonan syndrome. JT Med Genet 1987;24: 9-13.","journal-title":"JT Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1212\/WNL.41.12.1923","article-title":"Familial spinal neurofibromatosis: clinical and DNA linkage analysis","volume":"41","author":"Pulst, S.M.; Riccardi, V.M.; Fain, P.; Korenberg, JR","year":"1991","unstructured":"Pulst SM, Riccardi VM, Fain P, Korenberg JR. Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 1991;41:1923-7.","journal-title":"Neurology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/ajmg.1320460428","article-title":"Exclusion of the neurofibromatosis locus in a family with inherited cafe-au-lait spots","volume":"46","author":"Brunner, H.G.; Hulsebos, T.; Steijlen, P.M.; der Kinderen, D.G.; Steen, A.V.D.; Hamel, B.C.J.","year":"1993","unstructured":"Brunner HG, Hulsebos T, Steijlen PM, der Kinderen DG, Steen AVD, Hamel BCJ. Exclusion of the neurofibromatosis locus in a family with inherited cafe-au-lait spots. Am JMed Genet 1993;46:472-4.","journal-title":"Am JMed Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1001\/archderm.1989.01670150080013","article-title":"An unusual variant of neurofibromatosis or a distinct clinical entity","volume":"125","author":"Purcell, S.; Schwannomatosis, Dixon S.L.","year":"1989","unstructured":"Purcell S, Dixon SL. Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity. Arch Dermatol 1989;125:390-3.","journal-title":"Arch Dermatol"},{"key":"ref_15","article-title":"Neurofibromatosis: phenotype, natural history and pathogenesis","author":"Riccardi, V.M.; Eichner, J.E.","year":"1986","unstructured":"Riccardi VM, Eichner JE. Neurofibromatosis: phenotype, natural history and pathogenesis. Baltimore: Johns Hopkins University Press, 1986."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1093\/brain\/111.6.1355","article-title":"Von Recklinghausen neurofibromatosis: a clinical and population study in South-East Wales","volume":"111","author":"Huson, S.M.; Harper, P.S.; Compton, D.A.S.","year":"1988","unstructured":"Huson SM, Harper PS, Compton DAS. Von Recklinghausen neurofibromatosis: a clinical and population study in South-East Wales. Brain 1988;111:1355-81.","journal-title":"Brain"},{"key":"ref_17","article-title":"The neumfibromatosis: a pathogenetic and clinical overview","author":"Huson, S.M.; Hughes, R.A.C.","year":"1994","unstructured":"Huson SM, Hughes RAC. The neumfibromatosis: a pathogenetic and clinical overview. London: Chapman & Hall, 1994."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/343558a0","article-title":"Paternal origin of new mutations in Von Recklinghausen neurofibromatosis","volume":"343","author":"Jadayel, D.; Fain, P.; Upadhyaya, M.","year":"1990","unstructured":"Jadayel D, Fain P, Upadhyaya M, et al. Paternal origin of new mutations in Von Recklinghausen neurofibromatosis. Nature 1990;343:558-9.","journal-title":"Nature"},{"key":"ref_19","first-page":"279","article-title":"Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes","volume":"88","author":"Stephens, K.; Kayes, L.; Riccardi, V.M.; Rising, M.; Sybert, V.P.; Pagon, R.A.","year":"1992","unstructured":"Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 1992;88:279-82.","journal-title":"Hum Genet"},{"key":"ref_20","first-page":"129","article-title":"Cutaneous manifestations of neurofibromatosis: cellular interaction, pigmentation, and mast cells","volume":"17","author":"Riccardi, V.M.","year":"1981","unstructured":"Riccardi VM. Cutaneous manifestations of neurofibromatosis: cellular interaction, pigmentation, and mast cells. Birth Defects 1981;17:129-45.","journal-title":"Birth Defects"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.26.11.704","article-title":"A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and the effect of parental transmission on severity","volume":"26","author":"Huson, S.M.; Compton, D.A.S.; Clarke, P.; Harper, P.S.","year":"1989","unstructured":"Huson SM, Compton DAS, Clarke P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and the effect of parental transmission on severity. 7 Med Genet 1989;26:704-1 1.","journal-title":"7 Med Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1136\/jmg.26.11.712","article-title":"A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling","volume":"26","author":"Huson, S.M.; Compton, D.A.S.; Harper, P.S.","year":"1989","unstructured":"Huson SM, Compton DAS, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. JMed Genet 1989;26:712-21.","journal-title":"JMed Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1136\/jmg.24.9.515","article-title":"An exclusion map for von Recklinghausen neurofibromatosis","volume":"24","author":"Safarazi, M.; Huson, S.; Edwards, J.H.","year":"1987","unstructured":"Safarazi M, Huson S, Edwards JH. An exclusion map for von Recklinghausen neurofibromatosis. J Med Genet 1987;24:515-20.","journal-title":"J Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/0092-8674(87)90534-4","article-title":"Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene","volume":"49","author":"Seizinger, B.R.; Rouleau, G.A.; Ozelius, L.J.","year":"1987","unstructured":"Seizinger BR, Rouleau GA, Ozelius LJ, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987;49:589-94.","journal-title":"Cell"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1126\/science.3107130","article-title":"Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17","volume":"236","author":"Barker, D.; Wright, E.; Nguyen, K.","year":"1987","unstructured":"Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987;236: 1100-2.","journal-title":"Science"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/0888-7543(87)90040-1","article-title":"Tightly linked markers for the neurofibromatosis type 1 gene","volume":"1","author":"White, R.; Nakamura, Y.; O'Connell, P.","year":"1987","unstructured":"White R, Nakamura Y, O'Connell P, et al. Tightly linked markers for the neurofibromatosis type 1 gene. Genomics 1987;1:364-7.","journal-title":"Genomics"},{"key":"ref_27","first-page":"374","article-title":"Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1","volume-title":"Genomics","volume":"1","author":"VanTuinen, P.; Rich, D.C.; Summers, K.M.; Ledbetter, D.H.","year":"1987","unstructured":"VanTuinen P, Rich DC, Summers KM, Ledbetter DH. Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics 1987; 1:374-81."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/0888-7543(87)90043-7","article-title":"Linkage of NF1 to 12 chromosome 17 markers: a summary of eight concurrent reports","volume":"1","author":"Skolnick, M.H.; Ponder, B.A.J.; Seizinger, B.","year":"1987","unstructured":"Skolnick MH, Ponder BAJ, Seizinger B. Linkage of NF1 to 12 chromosome 17 markers: a summary of eight concurrent reports. Genomics 1987;1:382-3.","journal-title":"Genomics"},{"key":"ref_29","first-page":"6","article-title":"Multipoint linkage analysis in neurofibromatosis type 1: an international collaboration","volume":"44","author":"Goldgar, D.E.; Green, P.; Parry, D.M.; Mulvihill, J.J.","year":"1989","unstructured":"Goldgar DE, Green P, Parry DM, Mulvihill JJ. Multipoint linkage analysis in neurofibromatosis type 1: an international collaboration. AmJ7 Hum Genet 1989;44:6-12.","journal-title":"AmJ7 Hum Genet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ajmg.1320280333","article-title":"Cases of neurofibromatosis with rearrangement of chromosome 17 involving band 17ql1.2","volume":"28","author":"Schmidt, M.A.; Michels, W.; Deward, W.","year":"1987","unstructured":"Schmidt MA, Michels W, Deward W. Cases of neurofibromatosis with rearrangement of chromosome 17 involving band 17ql1.2. Am JMed Genet 1987;28:771-7.","journal-title":"Am JMed Genet"},{"key":"ref_31","first-page":"20","article-title":"Precise localisation of NFI to 17q11.2 by balanced translocation","volume":"44","author":"Ledbetter, D.H.; Rich, D.C.; O'Connell, P.; Leppert, M.; Carey, J.C.","year":"1989","unstructured":"Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC. Precise localisation of NFI to 17q11.2 by balanced translocation. Am J Hum Genet 1989;44:20-4.","journal-title":"Am J Hum Genet"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1126\/science.2543077","article-title":"Two NF1 translocations map within a 600-kilobase segment of 17qll.2","volume":"244","author":"O'Connell, P.; Leach, R.; Cawthon, R.M.","year":"1989","unstructured":"O'Connell P, Leach R, Cawthon RM, et al. Two NF1 translocations map within a 600-kilobase segment of 17qll.2. Science 1989;244:1087-8.","journal-title":"Science"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1126\/science.2543076","article-title":"Physical mapping of a translocation breakpoint in neurofibromatosis","volume":"244","author":"Fountain, J.W.; Wallace, M.R.; Bruce, M.A.","year":"1989","unstructured":"Fountain JW, Wallace MR, Bruce MA, et al. Physical mapping of a translocation breakpoint in neurofibromatosis. Science 1989;244: 1085-7.","journal-title":"Science"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0168-9525(89)90085-1","article-title":"Progress towards identifying the neurofibromatosis (NFl) gene","volume":"5","author":"Collins, F.S.; O'Connell, P.; Seizinger, Ponder B.A.J.; B.R.","year":"1989","unstructured":"Collins FS, O'Connell P, Ponder BAJ. Seizinger BR. Progress towards identifying the neurofibromatosis (NFl) gene. Trends Genet 1989;5:217-21.","journal-title":"Trends Genet"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/gcc.2870020404","article-title":"A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region","volume":"2","author":"Wallace, M.R.; Andersen, L.B.; Fountain, J.W.","year":"1990","unstructured":"Wallace MR, Andersen LB, Fountain JW, et al. A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes Chrom Cancer 1990;2:271-7.","journal-title":"Genes Chrom Cancer"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/0888-7543(90)90198-4","article-title":"The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations","volume":"7","author":"O'Connell, P.; Viskochil, D.; Buchberg, A.M.","year":"1990","unstructured":"O'Connell P, Viskochil D, Buchberg AM, et al. The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics 1990;7:547-54.","journal-title":"Genomics"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/0888-7543(90)90199-5","article-title":"Identification and characterisation of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts","volume":"7","author":"Cawthon, R.M.; O'Connell, P.; Buchberg, A.M.","year":"1990","unstructured":"Cawthon RM, O'Connell P, Buchberg AM, et al. Identification and characterisation of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics 1990;7:555-65.","journal-title":"Genomics"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/0888-7543(91)90410-G","article-title":"cDNA sequence and genomic structure of Evi2B, a gene lying within an intron of the neurofibromatosis type 1 gene","volume":"9","author":"Cawthon, R.M.; Andersen, L.B.; Buchberg, A.M.","year":"1991","unstructured":"Cawthon RM, Andersen LB, Buchberg AM, et al. cDNA sequence and genomic structure of Evi2B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics 1991;9:446-60.","journal-title":"Genomics"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1128\/MCB.11.2.906","article-title":"The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene","volume":"11","author":"Viskochil, D.; Cawthon, R.; O'Connell, P.","year":"1991","unstructured":"Viskochil D, Cawthon R, O'Connell P, et al. The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene. Mol Cell Biol 1991;11:906-12.","journal-title":"Mol Cell Biol"},{"key":"ref_40","first-page":"537","article-title":"Characterisation of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene","volume":"3","author":"Xu, G.; O'Connell, P.; Stevens, J.; White, R.","year":"1992","unstructured":"Xu G, O'Connell P, Stevens J, White R. Characterisation of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. Genomics 1992;3:537-42.","journal-title":"Genomics"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/0888-7543(92)90140-N","article-title":"A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene","volume":"13","author":"Marchuk, D.A.; Tavakkol, R.; Wallace, M.R.","year":"1992","unstructured":"Marchuk DA, Tavakkol R, Wallace MR, et al. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 1992;13:672-80.","journal-title":"Genomics"},{"key":"ref_42","first-page":"93140","article-title":"cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of NFl gene product","volume":"11","author":"Marchuk, D.A.; Saulino, A.M.; Tavakkol, R.","year":"1991","unstructured":"Marchuk DA, Saulino AM, Tavakkol R, et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of NFl gene product. Genomics 1991;11:93140.","journal-title":"Genomics"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1146\/annurev.ne.16.030193.001151","article-title":"The neurofibromatosis type 1 gene","volume":"16","author":"Viskochil, D.; White, R.; Cawthon, R.","year":"1993","unstructured":"Viskochil D, White R, Cawthon R. The neurofibromatosis type 1 gene. Annu Rev Neurosci 1993;16:183-205.","journal-title":"Annu Rev Neurosci"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/0092-8674(90)90024-9","article-title":"The neurofibromatosis type 1 gene encodes a protein related to GAP","volume":"62","author":"Xu, G.; O'Connell, P.; Viskochil, D.","year":"1990","unstructured":"Xu G, O'Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990;62:599-608.","journal-title":"Cell"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/347291a0","article-title":"Sequence homology shared by neurofibromatosis type 1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway","volume":"347","author":"Buchberg, A.M.; Cleveland, L.S.; Jenkins, N.A.; Copeland, N.G.","year":"1990","unstructured":"Buchberg AM, Cleveland LS, Jenkins NA, Copeland NG. Sequence homology shared by neurofibromatosis type 1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 1990;347:291-4.","journal-title":"Nature"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1128\/MCB.13.1.487","article-title":"A conserved alternative splice in the von Recklinghausen neurofibromatosis (NFl) gene produces two neurofibromin isoforms, both with GAP activity","volume":"13","author":"Andersen, L.B.; Ballester, R.; Marchuk, D.A.","year":"1993","unstructured":"Andersen LB, Ballester R, Marchuk DA, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NFl) gene produces two neurofibromin isoforms, both with GAP activity. Mol Cell Biol 1993;13: 487-95.","journal-title":"Mol Cell Biol"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1093\/hmg\/2.7.989","article-title":"An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NFl) gene is expressed in muscle","volume":"2","author":"Gutmann, D.H.; Andersen, L.B.; Cole, J.L.; Swaroop, M.; Collins, F.S.","year":"1993","unstructured":"Gutmann DH, Andersen LB, Cole JL, Swaroop M, Collins FS. An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NFl) gene is expressed in muscle. Hum Mol Genet 1993;2:989-92.","journal-title":"Hum Mol Genet"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1016\/0006-291X(92)91294-Z","article-title":"Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPaseactivating protein","volume":"187","author":"Suzuki, H.; Takahashi, K.; Kubota, Y.; Shibahara, S.","year":"1992","unstructured":"Suzuki H, Takahashi K, Kubota Y, Shibahara S. Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPaseactivating protein. Biochem Biophys Res Commun 1992; 187:984-90.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/hmg\/4.5.915","article-title":"Neurofibromatosis 1 (NFl) mRNAs expressed in the central nervous system are differentially spliced in the 5 part of the gene","volume":"4","author":"Danglot, G.; Regnier, V.; Fauvet, D.; Vassal, G.; Kujas, M.; Bemheim, A.","year":"1995","unstructured":"Danglot G, Regnier V, Fauvet D, Vassal G, Kujas M, Bemheim A. Neurofibromatosis 1 (NFl) mRNAs expressed in the central nervous system are differentially spliced in the 5 part of the gene. Hum Mol Genet 1995; 4:915-20.","journal-title":"Hum Mol Genet"},{"key":"ref_50","first-page":"1555","article-title":"Differential expression of two types of the neurofibromatosis type 1 (NFl) gene transcripts related to neuronal differentiation","volume":"6","author":"Nishi, T.; Lee, P.S.Y.; Oka, K.","year":"1991","unstructured":"Nishi T, Lee PSY, Oka K, et al. Differential expression of two types of the neurofibromatosis type 1 (NFl) gene transcripts related to neuronal differentiation. Oncogene 1991;6:1555-9.","journal-title":"Oncogene"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/0006-291X(91)92029-J","article-title":"Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63base insert in the region coding for GTPase activating protein-related domain","volume":"181","author":"Suzuki, Y.; Suzuki, H.; Kayama, T.; Yoshimoto, T.; Shibahara, S.","year":"1991","unstructured":"Suzuki Y, Suzuki H, Kayama T, Yoshimoto T, Shibahara S. Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63base insert in the region coding for GTPase activating protein-related domain. Biochem Biophys Res Commun 1991;181:955-61.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF03160119","article-title":"Analysis of the sequence and embryonic expression of chicken neurofibromin mRNA","volume":"18","author":"Schafer, G.L.; Ciment, G.; Stocker, K.M.; Baizer, L.","year":"1993","unstructured":"Schafer GL, Ciment G, Stocker KM, Baizer L. Analysis of the sequence and embryonic expression of chicken neurofibromin mRNA. Mol Chem Neuropathol 1993;18: 267-78.","journal-title":"Mol Chem Neuropathol"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/jnr.490360212","article-title":"Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation","volume":"36","author":"Gutmann, D.H.; Tennekoon, G.I.; Cole, J.L.; Collins, F.S.; Rutkowski, J.L.","year":"1993","unstructured":"Gutmann DH, Tennekoon GI, Cole JL, Collins FS, Rutkowski JL. Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. 7 Neurosci Res 1993;36:216-23.","journal-title":"7 Neurosci Res"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1111\/j.1471-4159.1993.tb07442.x","article-title":"Regulated expression of neurofibromin type 1 transcript in the developing chicken brain","volume":"61","author":"Baizer, L.; Ciment, G.; Hendrickson, S.K.; Schafer, G.L.","year":"1993","unstructured":"Baizer L, Ciment G, Hendrickson SK, Schafer GL. Regulated expression of neurofibromin type 1 transcript in the developing chicken brain. J Neurochem 1993;61:2054-60.","journal-title":"J Neurochem"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"9914","DOI":"10.1073\/pnas.88.22.9914","article-title":"Identification and characterisation of the neurofibromatosis type 1 protein product","volume":"88","author":"DeClue, J.E.; Cohen, B.D.; Lowry, D.L.","year":"1991","unstructured":"DeClue JE, Cohen BD, Lowry DL. Identification and characterisation of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci USA 1991;88:9914-18.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"9658","DOI":"10.1073\/pnas.88.21.9658","article-title":"Identification of the neurofibromatosis type 1 gene product","volume":"88","author":"Gutmann, D.H.; Wood, D.L.; Collins, F.S.","year":"1991","unstructured":"Gutmann DH, Wood DL, Collins FS. Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci USA 1991;88:9658-62.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/0896-6273(92)90270-N","article-title":"The protein product of the neurofibromatosis type 1 gene is expressed at the highest abundance in neurons, Schwann cells, and oligodendrocytes","volume":"8","author":"Daston, M.M.; Scrable, H.; Nordlund, M.; Sturbaum, A.K.; Nissen, L.M.; Ratner, N.","year":"1992","unstructured":"Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N. The protein product of the neurofibromatosis type 1 gene is expressed at the highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 1992;8:415-28.","journal-title":"Neuron"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/356713a0","article-title":"Aberrant regulation of ras proteins in malignant tumor cells from type 1 neurofibromatosis patients","volume":"356","author":"Basu, T.N.; Gutmann, D.H.; Fletcher, J.A.; Glover, T.W.; Collins, F.S.; Downward, J.","year":"1992","unstructured":"Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J. Aberrant regulation of ras proteins in malignant tumor cells from type 1 neurofibromatosis patients. Nature 1992;356:713-15.","journal-title":"Nature"},{"key":"ref_59","first-page":"481","article-title":"Identification of neurofibromatosis type 1 gene product as an insoluble GTPase-activating protein toward ras p21","volume":"7","author":"Hattori, S.; Maekawa, M.; Nakamura, S.","year":"1992","unstructured":"Hattori S, Maekawa M, Nakamura S. Identification of neurofibromatosis type 1 gene product as an insoluble GTPase-activating protein toward ras p21. Oncogene 1992;7:481-5.","journal-title":"Oncogene"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0193-62","article-title":"Neurofibromatosis type 1 gene mutations in neuroblastoma","volume":"3","author":"The, I.; Murthy, A.E.; Hannigan, G.E.","year":"1993","unstructured":"The I, Murthy AE, Hannigan GE, et al. Neurofibromatosis type 1 gene mutations in neuroblastoma. Nature Genet 1993;3:62-6.","journal-title":"Nature Genet"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1002\/j.1460-2075.1993.tb05841.x","article-title":"Characterization of fulllength neurofibromin: tubulin inhibits Ras GAP activity","volume":"12","author":"Bollag, G.; McCormick, F.; Clark, R.","year":"1993","unstructured":"Bollag G, McCormick F, Clark R. Characterization of fulllength neurofibromin: tubulin inhibits Ras GAP activity. EMBO J 1993;12:1923-7.","journal-title":"EMBO J"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0896-6273(93)90324-K","article-title":"The neurofibromatosis type 1 gene and its protein product, neurofibromin","volume":"10","author":"Gutmann, D.H.; Collins, F.S.","year":"1993","unstructured":"Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 1993;10:335-43.","journal-title":"Neuron"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1523\/JNEUROSCI.13-04-01588.1993","article-title":"Neurofibromin is enriched in the endoplasmic reticulum of CNA neurons","volume":"13","author":"Nordlund, M.; Gu, X.; Shipley, M.T.; Ratner, N.","year":"1994","unstructured":"Nordlund M, Gu X, Shipley MT, Ratner N. Neurofibromin is enriched in the endoplasmic reticulum of CNA neurons. J Neurosci 1994;13: 1588-600.","journal-title":"J Neurosci"},{"key":"ref_64","first-page":"812","article-title":"Localisation of neurofibromin to keratinocytes in developing rat and human skin","volume":"102","author":"Malhotra, R.; Ratner, N.","year":"1994","unstructured":"Malhotra R, Ratner N. Localisation of neurofibromin to keratinocytes in developing rat and human skin. _7 Invest Dermatol 1994;102:812-18."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/jnr.490370312","article-title":"Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation","volume":"37","author":"Gutmann, D.H.; Cole, J.L.; Collins, F.S.","year":"1994","unstructured":"Gutmann DH, Cole JL, Collins FS. Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation. _7 Neurosci Res 1994;37:398-405.","journal-title":"_7 Neurosci Res"},{"key":"ref_66","first-page":"549","article-title":"Specific expression of the neurofibromatosis type 1 gene (NF 1) in the hamster Schwann cell","volume":"144","author":"Nakamura, T.; Nemoto, T.; Arai, M.","year":"1994","unstructured":"Nakamura T, Nemoto T, Arai M, et al. Specific expression of the neurofibromatosis type 1 gene (NF 1) in the hamster Schwann cell. Am _7 Pathol 1994;144:549-55.","journal-title":"Am _7 Pathol"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/0006-291X(91)91951-8","article-title":"Antibody against neurofibromatosis type 1 gene product reacts with a triton-insoluble GTPase activating protein toward ras p21","volume":"177","author":"Hattori, S.; Ohmi, N.; Maekawa, M.; Hoshino, M.; Kawakita, M.; Nakamura, S.","year":"1991","unstructured":"Hattori S, Ohmi N, Maekawa M, Hoshino M, Kawakita M, Nakamura S. Antibody against neurofibromatosis type 1 gene product reacts with a triton-insoluble GTPase activating protein toward ras p21. Biochem Biophys Res Commun 1991;177:83-9.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/351576a0","article-title":"Differential regulation of rasGAP and the neurofibromatosis gene product activities","volume":"351","author":"Bollag, G.; McCormick, F.","year":"1991","unstructured":"Bollag G, McCormick F. Differential regulation of rasGAP and the neurofibromatosis gene product activities. Nature 1991;351:576-9.","journal-title":"Nature"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/BF01233074","article-title":"The neurofibromatosis type 1 gene product (neurofibromin) associated with microtubules","volume":"19","author":"Gregory, P.E.; Gutmann, D.H.; Mitchell, A.","year":"1993","unstructured":"Gregory PE, Gutmann DH, Mitchell A, et al. The neurofibromatosis type 1 gene product (neurofibromin) associated with microtubules. Som Cell Mol Genet 1993;19: 265-74.","journal-title":"Som Cell Mol Genet"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"269","DOI":"10.3109\/10408369209114603","article-title":"Oncogenes and tumor suppressor genes: new biochemical tests","volume":"29","author":"Diamandis, E.P.","year":"1992","unstructured":"Diamandis EP. Oncogenes and tumor suppressor genes: new biochemical tests. Crit Rev Clin Lab Sci 1992;29: 269-305.","journal-title":"Crit Rev Clin Lab Sci"},{"key":"ref_71","first-page":"820","article-title":"Mutation and cancer: statistical","volume-title":"study of retinoblastomas. Proc NatlAcad Sci USA","volume":"68","author":"AG, Jr, Knudson","year":"1971","unstructured":"Knudson AG Jr. Mutation and cancer: statistical study of retinoblastomas. Proc NatlAcad Sci USA 1971;68:820-3."},{"key":"ref_72","first-page":"3169","article-title":"p53: the ultimate tumor suppressor gene?","volume":"6","author":"Oren, M.","year":"1992","unstructured":"Oren M. p53: the ultimate tumor suppressor gene? FASEB.7 1992;6:3169-76."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/0092-8674(90)90186-I","article-title":"A genetic model for colorectal tumorigenesis","volume":"61","author":"Fearon, E.R.; Vogelstein, B.","year":"1990","unstructured":"Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-67.","journal-title":"Cell"},{"key":"ref_74","first-page":"925","article-title":"Neurofibromatosis and childhood leukemia","volume":"92","author":"Bader, J.L.; Miller, R.W.","year":"1978","unstructured":"Bader JL, Miller RW. Neurofibromatosis and childhood leukemia. _7 Pediatr 1978;92:925-9."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/0092-8674(90)90149-9","article-title":"The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae","volume":"63","author":"Xu, G.; Lin, B.; Tanaka, K.","year":"1990","unstructured":"Xu G, Lin B, Tanaka K, et al. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 1990;63:835-41.","journal-title":"Cell"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/0092-8674(92)90408-5","article-title":"Somatic mutations in the neurofibromatosis 1 gene in human tumors","volume":"69","author":"Li, Y.; Bollag, G.; Clark, R.","year":"1992","unstructured":"Li Y, Bollag G, Clark R, et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 1992; 69:275-81.","journal-title":"Cell"},{"key":"ref_77","first-page":"453","article-title":"sarl, a gene from the yeast Schizosaccharomyces pombe encoding a protein that regulates rasl","author":"Wang, Y.; Boguski, M.; Riggs, M.; Rodgers, L.; Wigler, M.","year":"1991","unstructured":"Wang Y, Boguski M, Riggs M, Rodgers L, Wigler M. sarl, a gene from the yeast Schizosaccharomyces pombe encoding a protein that regulates rasl. Cell Reg 1991,2: 453-65.","journal-title":"Cell Reg"},{"key":"ref_78","first-page":"294","article-title":"Molecular genetic analysis of the von Recklinghausen neurofibromatosis (NF 1) gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method","volume":"21","author":"Sawada, S.; Monda, M.; Niimura, M.","year":"1994","unstructured":"Sawada S, Monda M, Niimura M. Molecular genetic analysis of the von Recklinghausen neurofibromatosis (NF 1) gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method. _7 Dermatol 1994;21:294-300."},{"key":"ref_79","first-page":"1058","article-title":"Mutations within the FLR exon of NF1 are rare in myelodysplastic syndromes and acute myelocytic leukemias","volume":"7","author":"Ludwig, L.; Jassen, J.W.; Schulz, A.S.; Bartram, C.R.","year":"1993","unstructured":"Ludwig L, Jassen JW, Schulz AS, Bartram CR. Mutations within the FLR exon of NF1 are rare in myelodysplastic syndromes and acute myelocytic leukemias. Leukenmia 1993;7: 1058-60.","journal-title":"Leukenmia"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/gcc.2870040411","article-title":"Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis","volume":"4","author":"Xu, W.; Mulligan, M.; Ponder, B.A.J.","year":"1992","unstructured":"Xu W, Mulligan M, Ponder BAJ. Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis. Genes Chrom Cancer 1992;4:337-42.","journal-title":"Genes Chrom Cancer"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1038\/ng0293-118","article-title":"Mutations in the neurofibromatosis 1 gene in sporadic malignant melonoma cell lines","volume":"3","author":"Andersen, L.B.; Fountain, J.W.; Gutmann, D.H.","year":"1993","unstructured":"Andersen LB, Fountain JW, Gutmann DH, et al. Mutations in the neurofibromatosis 1 gene in sporadic malignant melonoma cell lines. Nature Genet 1993;3:118-21.","journal-title":"Nature Genet"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ng0293-122","article-title":"Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis","volume":"3","author":"Legius, E.; Marchuk, D.A.; Collins, F.S.; Glover, T.W.","year":"1993","unstructured":"Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genet 1993;3:122-6.","journal-title":"Nature Genet"},{"key":"ref_83","first-page":"600","article-title":"The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin","volume":"49","author":"Skuse, G.R.; Kosciolek, B.A.; Rowley, D.T.","year":"1991","unstructured":"Skuse GR, Kosciolek BA, Rowley DT. The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Ani 7 Hum Genet 1991;49:600-7.","journal-title":"Ani 7 Hum Genet"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1056\/NEJM197102112840604","article-title":"Multiple cell origin of hereditary neurofibromas","volume":"284","author":"Fialkow, P.J.; Sagebiel, R.W.; Gartler, S.M.; Rimoin, D.L.","year":"1971","unstructured":"Fialkow PJ, Sagebiel RW, Gartler SM, Rimoin DL. Multiple cell origin of hereditary neurofibromas. N Engl. Med 1971;284:298-300.","journal-title":"N Engl. Med"},{"key":"ref_85","first-page":"5435","article-title":"Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas","volume-title":"von Recklinghausen neurofibromatosis. Proc Natl Acad Sci","volume":"87","author":"Menon, A.G.; Anderson, K.M.; Riccardi, V.M.","year":"1990","unstructured":"Menon AG, Anderson KM, Riccardi VM, et al. Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci USA 1990;87:5435-9."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1002\/gcc.2870030111","article-title":"Molecular and cytogenetic analysis of tumours in von Recklinghausen neurofibromatosis","volume":"3","author":"Glover, T.W.; Stein, C.K.; Legius, E.; Anderson, L.B.; Brereton, A.; Johnson, S.","year":"1991","unstructured":"Glover TW, Stein CK, Legius E, Anderson LB, Brereton A, Johnson S. Molecular and cytogenetic analysis of tumours in von Recklinghausen neurofibromatosis. Genes Chrom Cancer 1991;3:62-70.","journal-title":"Genes Chrom Cancer"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/0092-8674(90)90054-I","article-title":"ras and GAP - who's controlling whom?","volume":"61","author":"Hall, A.","year":"1990","unstructured":"Hall A. ras and GAP - who's controlling whom? Cell 1990; 61:921-3.","journal-title":"Cell"},{"key":"ref_88","first-page":"3391","article-title":"Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors","volume":"52","author":"Biegel, J.A.; Burk, C.D.; Barr, F.G.; Emanuel, B.S.","year":"1992","unstructured":"Biegel JA, Burk CD, Barr FG, Emanuel BS. Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors. Cancer Res 1992;52: 3391-5.","journal-title":"Cancer Res"},{"key":"ref_89","first-page":"584","article-title":"Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. An _7 Hum Genet","volume":"50","author":"Cogen, P.H.; Daneshvar, L.; Metzger, A.K.; Duyk, G.; Edwards, M.S.; Sheffield, V.C.","year":"1992","unstructured":"Cogen PH, Daneshvar L, Metzger AK, Duyk G, Edwards MS, Sheffield VC. Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. An _7 Hum Genet 1992;50:584-9."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1128\/MCB.14.1.534","article-title":"Functional evidence for a second tumor suppressor gene on human chromosome 17","volume":"14","author":"Chen, P.; Ellmore, N.; Weissman, B.E.","year":"1994","unstructured":"Chen P, Ellmore N, Weissman BE. Functional evidence for a second tumor suppressor gene on human chromosome 17. Mol Cell Biol 1994;14:534-42.","journal-title":"Mol Cell Biol"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ana.410350120","article-title":"Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma","volume":"35","author":"van Meyel DJ; DA, Ramsay; AF, Chambers; DR, Macdonald; JG, Cairmcross","year":"1994","unstructured":"van Meyel DJ, Ramsay DA, Chambers AF, Macdonald DR, Cairmcross JG. Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma. Ann Neurol 1994;35: 120-2.","journal-title":"Ann Neurol"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/0092-8674(92)90441-E","article-title":"Signal transduction through small GTPases - a tale of two GAPs","volume":"69","author":"Hall, A.","year":"1992","unstructured":"Hall A. Signal transduction through small GTPases - a tale of two GAPs. Cell 1992;69:389-91.","journal-title":"Cell"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0092-8674(89)90976-8","article-title":"Ras GTPase activating protein: signal transmitter and signal terminator","volume":"56","author":"McCormick, F.","year":"1989","unstructured":"McCormick F. Ras GTPase activating protein: signal transmitter and signal terminator. Cell 1989;56:5-8.","journal-title":"Cell"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/0092-8674(90)90094-U","article-title":"IRA1 and IRA2 encode proteins that may be functionally equivalent to mammalian ras GTPase activating protein","volume":"60","year":"1990","unstructured":"IRA1 and IRA2 encode proteins that may be functionally equivalent to mammalian ras GTPase activating protein. Cell 1990;60:803-7.","journal-title":"Cell"},{"key":"ref_95","first-page":"4303","article-title":"IRA2, a second gene of Sacchromyces cerevisiae that encodes a protein with a domain homologous to mammalian ras GTPase activating protein","volume":"1","author":"Tanaka, K.; Nakafuku, M.; Tamanoi, F.; Kaziro, Y.; Matsumoto, K.; Toh-e, A.","year":"1990","unstructured":"Tanaka K, Nakafuku M, Tamanoi F, Kaziro Y, Matsumoto K, Toh-e A. IRA2, a second gene of Sacchromyces cerevisiae that encodes a protein with a domain homologous to mammalian ras GTPase activating protein. Mol Cell Biol 1990;1O:4303-13.","journal-title":"Mol Cell Biol"},{"key":"ref_96","first-page":"1001","article-title":"A putative ras GTPase activating protein acts as a negative regulator of signalling by the sevenless receptor tyrosine kinase","volume":"68","author":"Gaul, U.; Mardon, G.; Rubin, G.","year":"1992","unstructured":"Gaul U, Mardon G, Rubin G. A putative ras GTPase activating protein acts as a negative regulator of signalling by the sevenless receptor tyrosine kinase. Cell 1992;68: 1001-19.","journal-title":"Cell"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1038\/292506a0","article-title":"The p21 src genes of Harvey and Kirsten sarcoma viruses originate from divergent members of a family of normal vertebrae genes","volume":"292","author":"Ellis, R.W.; Defeo, D.; Shih, T.Y.","year":"1981","unstructured":"Ellis RW, Defeo D, Shih TY, et al. The p21 src genes of Harvey and Kirsten sarcoma viruses originate from divergent members of a family of normal vertebrae genes. Nature 1981;292:506-11.","journal-title":"Nature"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1146\/annurev.bi.56.070187.004023","article-title":"Ras genes","volume":"56","author":"Barbacid, M.","year":"1987","unstructured":"Barbacid M. Ras genes. Annu Rev Biochenm 1987;56:779-828.","journal-title":"Annu Rev Biochenm"},{"key":"ref_99","first-page":"125","article-title":"The GTPase superfamily: a conserved switch for diverse cell functions","volume":"384","author":"Bourne, H.R.; Sanders, D.A.; McCormick, F.","year":"1990","unstructured":"Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: a conserved switch for diverse cell functions. Nature 1990;384: 125-32.","journal-title":"Nature"},{"key":"ref_100","first-page":"4682","article-title":"Ras oncogenes in human cancer. A review","volume":"49","author":"Bos, J.L.","year":"1989","unstructured":"Bos JL. Ras oncogenes in human cancer. A review. Cancer Res 1989;49:4682-9.","journal-title":"Cancer Res"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/0092-8674(90)90151-4","article-title":"The NFl locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins","volume":"63","author":"Ballester, R.; Marchuk, D.; Boguski, M.","year":"1990","unstructured":"Ballester R, Marchuk D, Boguski M, et al. The NFl locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990;63:851-9.","journal-title":"Cell"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/0092-8674(90)90150-D","article-title":"The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21 regulation","volume":"63","author":"Martin, G.A.; Viskochil, D.; Bollag, G.","year":"1990","unstructured":"Martin GA, Viskochil D, Bollag G, et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21 regulation. Cell 1990;63:843-9.","journal-title":"Cell"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/0092-8674(89)90014-7","article-title":"Genetic analysis of mammalian GAP expressed in yeast","volume":"59","author":"Ballester, R.; Michaeli, T.; Ferguson, K.; Xu, H.P.; McCorick, F.; Wigler, M.","year":"1989","unstructured":"Ballester R, Michaeli T, Ferguson K, Xu HP, McCorick F, Wigler M. Genetic analysis of mammalian GAP expressed in yeast. Cell 1989;59:681-6.","journal-title":"Cell"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"22331","DOI":"10.1016\/S0021-9258(18)41532-3","article-title":"The GTPaseactivating NFl fragment of 91 amino acids reverses v- Ha-Ras-induced malignant phenotype","volume":"268","author":"Nur-E-Kamal, M.S.; Varga, M.; Maruta, H.","year":"1993","unstructured":"Nur-E-Kamal MS, Varga M, Maruta H. The GTPaseactivating NFl fragment of 91 amino acids reverses v- Ha-Ras-induced malignant phenotype. J Biol Chem 1993; 268:22331-7.","journal-title":"J Biol Chem"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"6706","DOI":"10.1073\/pnas.90.14.6706","article-title":"Suppression of oncogenic Ras by mutant neurofibromatosis type 1 genes with single amino acid substitutions","volume":"90","author":"Nakafuku, M.; Nagamine, M.; Ohtoshi, A.; Tanaka, K.; Toh-e, A.; Kaziro, Y.","year":"1993","unstructured":"Nakafuku M, Nagamine M, Ohtoshi A, Tanaka K, Toh-e A, Kaziro Y. Suppression of oncogenic Ras by mutant neurofibromatosis type 1 genes with single amino acid substitutions. Proc Natl Acad Sci USA 1993;90: 6706-10.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_106","first-page":"5322","article-title":"Biochemical characterisation of yeast ras2 mutants reveals a new region of ras protein involved in the interaction with GTPaseactivating proteins. _7 Biol","volume":"269","author":"Wood, D.R.; Poullet, P.; Wilson, B.A.","year":"1994","unstructured":"Wood DR, Poullet P, Wilson BA, et al. Biochemical characterisation of yeast ras2 mutants reveals a new region of ras protein involved in the interaction with GTPaseactivating proteins. _7 Biol Chemi 1994;269:5322-7.","journal-title":"Chemi"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/0092-8674(92)90407-4","article-title":"Abnormal regulation of mammalian p2 1ras contributes to malignant tumour growth in von Recklinghausen (type 1) neurofibromatosis","volume":"69","author":"DeClue, J.E.; Papageorge, A.G.; Flether, J.A.","year":"1992","unstructured":"DeClue JE, Papageorge AG, Flether JA, et al. Abnormal regulation of mammalian p2 1ras contributes to malignant tumour growth in von Recklinghausen (type 1) neurofibromatosis. Cell 1992;69:265-73.","journal-title":"Cell"},{"key":"ref_108","first-page":"761","article-title":"Collins F(NSF, l1B)alGleAsPt-erreRl.atAendaldyosimsaionf the neurofibromatosis type 1 by site-directed mutagenesis","volume":"8","author":"Gutmann, D.H.; Boguski, M.; Marchuk, D.; Wigler, M.","year":"1993","unstructured":"Gutmann DH, Boguski M, Marchuk D, Wigler M, Collins F(NSF,l1B)alGleAsPt-erreRl.atAendaldyosimsaionf the neurofibromatosis type 1 by site-directed mutagenesis. Oncogene 1993;8:761-9.","journal-title":"Oncogene"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1128\/MCB.14.1.815","article-title":"Functional significance of lysine 1423 of neurofibromin and characterisation of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19- activated phenotypes","author":"Poullet, P.; Lin, B.; Esson, K.; Tamanoi, F.","year":"1994","unstructured":"Poullet P, Lin B, Esson K, Tamanoi F. Functional significance of lysine 1423 of neurofibromin and characterisation of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19- activated phenotypes. Mol Cell Biol 1994,14:815-21.","journal-title":"Mol Cell Biol"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1126\/science.2833817","article-title":"Guanosine triphosphatase activating protein (GAP) interacts with the p21 effector binding domain","volume":"240","author":"Adari, H.; Lowry, D.R.; Willumsen, B.M.; Der, C.J.; McCormick, F.","year":"1988","unstructured":"Adari H, Lowry DR, Willumsen BM, Der CJ, McCormick F. Guanosine triphosphatase activating protein (GAP) interacts with the p21 effector binding domain. Science 1988;240:518-2 1.","journal-title":"Science"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/332548a0","article-title":"The cytoplasmic protein GAP is implicated as the target for regulation by the ras gene product","volume":"332","author":"Cales, C.; HancockJF, Marshall; CJ, Hall; A.","year":"1988","unstructured":"Cales C, HancockJF, Marshall CJ, Hall A. The cytoplasmic protein GAP is implicated as the target for regulation by the ras gene product. Nature 1988;332:548-51.","journal-title":"Nature"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/0092-8674(88)90531-4","article-title":"Cellular ras activity and phospholipid metabolism","volume":"52","author":"Yu, C.L.; Tsai, M.H.; Stacey, D.W.","year":"1988","unstructured":"Yu CL, Tsai MH, Stacey DW. Cellular ras activity and phospholipid metabolism. Cell 1988;52:63-71.","journal-title":"Cell"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1126\/science.2536192","article-title":"The effect of GTPase activating protein upon ras is inhibited by mitogenically responsive lipids","volume":"243","author":"Tsai, M.H.; Yu, C.L.; Wei, F.S.; Stacey, D.W.","year":"1989","unstructured":"Tsai MH, Yu CL, Wei FS, Stacey DW. The effect of GTPase activating protein upon ras is inhibited by mitogenically responsive lipids. Science 1989;243:522-6.","journal-title":"Science"},{"key":"ref_114","first-page":"2897","article-title":"The GTPase stimulatory activities of the neurofibromatosis type 1 and the yeast IRA2 proteins are inhibited by arachidonic acid","volume":"1","author":"Golubic, M.; Tanaka, K.; Dobrowolski, S.","year":"1991","unstructured":"Golubic M, Tanaka K, Dobrowolski S, et al. The GTPase stimulatory activities of the neurofibromatosis type 1 and the yeast IRA2 proteins are inhibited by arachidonic acid. EMBO]_ 1991;1O:2897-903.","journal-title":"EMBO]_"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1126\/science.1902323","article-title":"Regulation of Ras-GAP and neurofibromatosis type 1 gene product by eicosanoids","volume":"252","author":"HanJW, McCormick F.; IG, Masara","year":"1991","unstructured":"HanJW, McCormick F, Masara IG. Regulation of Ras-GAP and neurofibromatosis type 1 gene product by eicosanoids. Science 1991;252:576-9.","journal-title":"Science"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1128\/MCB.14.1.641","article-title":"Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function","volume":"14","author":"Johnson, M.R.; DeClue, J.E.; FelzmannS","year":"1994","unstructured":"Johnson MR, DeClue JE, FelzmannS, et al. Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function. Mol Cell Biol 1994;14:641-5.","journal-title":"Mol Cell Biol"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1111\/j.1749-6632.1986.tb38477.x","article-title":"Changes in the extent of microtubule assembly can regulate initiation of DNA synthesis","volume":"466","author":"Carney, D.H.; Crossin, K.L.; Ball, R.; Fuller, G.M.; Albrecht, T.; Thompson, W.C.","year":"1986","unstructured":"Carney DH, Crossin KL, Ball R, Fuller GM, Albrecht T, Thompson WC. Changes in the extent of microtubule assembly can regulate initiation of DNA synthesis. Ann NYAcad Sci 1986;466:919-32.","journal-title":"Ann NYAcad Sci"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1146\/annurev.cb.07.110191.000521","article-title":"Microtubule dynamics - mechanism, regulation and function","volume":"7","author":"Gelfand, VI, Bershadsky; A.D.","year":"1991","unstructured":"Gelfand VI, Bershadsky AD. Microtubule dynamics - mechanism, regulation and function. Annu Rev Cell Biol 1991;7:93-116.","journal-title":"Annu Rev Cell Biol"},{"key":"ref_119","first-page":"305","article-title":"An analysis of variation in expression of neurofibromatosis (NF) type1 (NFl): evidence for modifying genes","volume":"53","author":"Easton, D.F.; Ponder, M.A.; Huson, S.M.; Ponder, B.A.J.","year":"1993","unstructured":"Easton DF, Ponder MA, Huson SM, Ponder BAJ. An analysis of variation in expression of neurofibromatosis (NF) type1 (NFl): evidence for modifying genes. An, _7 Hun,1 Genet 1993;53:305-13."},{"key":"ref_120","first-page":"151","article-title":"Identification and characterisation of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NFI) gene","volume":"91","author":"Ainsworth, P.J.; Rodenhiser, D.I.; Costa, M.T.","year":"1993","unstructured":"Ainsworth PJ, Rodenhiser DI, Costa MT. Identification and characterisation of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NFI) gene. Hnwn Geniet 1993;91:151-6.","journal-title":"Hnwn Geniet"},{"key":"ref_121","first-page":"81","article-title":"Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type1 in Japanese","volume":"93","author":"Horiuchi, T.; Hatta, N.; Matsumoto, M.","year":"1994","unstructured":"Horiuchi T, Hatta N, Matsumoto M, et al. Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type1 in Japanese. Hun,iiGeniet 1994;93: 81-3.","journal-title":"Hun, iiGeniet"},{"key":"ref_122","first-page":"1861","article-title":"Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels","volume":"2","author":"Shen, M.H.; Harper, P.S.; Upadhyaya, M.","year":"1993","unstructured":"Shen MH, Harper PS, Upadhyaya M. Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. Hun, MolGenet 1993;2: 1861-4.","journal-title":"Hun, MolGenet"},{"key":"ref_123","first-page":"424","article-title":"Deletions spanning the neurofibromatosis1 gene: identification and phenotype of five patients","volume":"54","author":"Kayes, L.M.; Burke, W.; Riccardi, V.M.","year":"1994","unstructured":"Kayes LM, Burke W, Riccardi VM, et al. Deletions spanning the neurofibromatosis1 gene: identification and phenotype of five patients. An,7 HuniGeniet 1994;54: 424-36."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/343377a0","article-title":"Phosphorylation of GAP and GAP associated proteins by transforming and mitogenic tyrosine kinases","volume":"343","author":"Ellis, C.; Maron, M.; McCormick, F.; Pawson, T.","year":"1990","unstructured":"Ellis C, Maron M, McCormick F, Pawson T. Phosphorylation of GAP and GAP associated proteins by transforming and mitogenic tyrosine kinases. Nature 1990; 343:377-81.","journal-title":"Nature"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/342711a0","article-title":"PDGF induction of tyrosine phosphorylation of GTPase activating protein","volume":"342","author":"MolloyCJ, Bottaro D.P.; TP, Fleming; MS, Marshall; JB, Gibbs; SA, Aaronson","year":"1989","unstructured":"MolloyCJ, Bottaro DP, Fleming TP, Marshall MS, Gibbs JB, Aaronson SA. PDGF induction of tyrosine phosphorylation of GTPase activating protein. Natlure 1989; 342:711-14.","journal-title":"Natlure"},{"key":"ref_126","first-page":"669","article-title":"SH2 and SH3 domains: elements that control interactions of cytoplasmic signaling proteins","volume":"252","author":"Koch, C.A.; Andersen, D.; Moran, M.F.; Ellis, C.; Dawson, T.","year":"1991","unstructured":"Koch CA, Andersen D, Moran MF, Ellis C, Dawson T. SH2 and SH3 domains: elements that control interactions of cytoplasmic signaling proteins. Science 1991;252:669-74.","journal-title":"Science"},{"key":"ref_127","first-page":"996","article-title":"Possible involvement of c-kit receptor and its ligand in increase of mast cells in neurofibroma tissues","volume":"117","author":"HirotSa, NomurSa; H, Asada; A, Ito; i, MoriE; Y, Kitamura","year":"1993","unstructured":"HirotSa, NomurSa, Asada H, Ito A, MoriE i, Kitamura Y. Possible involvement of c-kit receptor and its ligand in increase of mast cells in neurofibroma tissues. Arch Pathol Lab Med 1993;117:996-9.","journal-title":"Arch Pathol Lab Med"},{"key":"ref_128","first-page":"415","article-title":"Role for the stem cell factor\/KIT complex in Schwann cell neoplasia and mast cell proliferation associated with neurofibromatosis..7 Neurosci","volume":"37","author":"RyaJnJ, Klein K.A.; NeubergerTJ","year":"1994","unstructured":"RyaJnJ, Klein KA, NeubergerTJ, et al. Role for the stem cell factor\/KIT complex in Schwann cell neoplasia and mast cell proliferation associated with neurofibromatosis..7 Neurosci Res 1994;37:415-32.","journal-title":"Res"},{"key":"ref_129","first-page":"827","article-title":"The growth regulation of neurofibroma cells in neurofibromatosis type- 1: increased responses to PDGF-BB and TGF-j31","volume":"i","author":"Kadono, T.; Soma, Y.; Takkehara, K.; Nakagawa, H.; Ishibashi, Y.; Kikuchi, K.","year":"1994","unstructured":"Kadono T, Soma Y, Takkehara K, Nakagawa H, Ishibashi Y, Kikuchi K. The growth regulation of neurofibroma cells in neurofibromatosis type-1: increased responses to PDGF-BB and TGF-j31. Biochen,i Biophys Res Coniniu,, 1994;198:827-34.","journal-title":"Biochen"},{"key":"ref_130","first-page":"1316","volume":"13","author":"Legius, E.; Marchuk, D.A.; Hall, B.K.","year":"1992","unstructured":"Legius E, Marchuk DA, Hall BK, et al. NFl-related locus on chromosome 15. Genomiics 1992;13:1316-18."},{"issue":"21","key":"ref_131","first-page":"672","article-title":"NFl-related loci on chromosomes","volume-title":"and 22: a potential role for gene conversion in the high spontaneous mutation rate of NFl? Ani Hun, Genet","volume":"20","author":"Cummings, L.M.; Glatfelter, A.; Marchuk, D.A.","year":"1993","unstructured":"Cummings LM, Glatfelter A, Marchuk DA. NFl-related loci on chromosomes 2, 12, 14, 15, 20, 21, and 22: a potential role for gene conversion in the high spontaneous mutation rate of NFl? Ani Hun, Genet (suippl) 1993; 53:672."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1006\/mcpr.1993.1061","article-title":"Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases","volume":"7","author":"Gasparini, P.; Grifa, A.; Origone, P.; Coviello, D.; Antonacci, R.; Rocchi, M.","year":"1993","unstructured":"Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M. Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. Mol Cell Probes 1993;7:415-18.","journal-title":"Mol Cell Probes"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/0027-5107(93)90060-S","article-title":"Current methods of mutation detection","volume":"285","author":"Cotton, R.G.H.","year":"1993","unstructured":"Cotton RGH. Current methods of mutation detection. Muitat Res 1993;285:125-44.","journal-title":"Muitat Res"},{"key":"ref_134","first-page":"639","article-title":"Characterisation of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)","volume":"i","author":"Valero, M.C.; Velasco, E.; Moreno, F.; Hernnandez-Chico, C.","year":"1994","unstructured":"Valero MC, Velasco E, Moreno F, Hernnandez-Chico C. Characterisation of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). Hun,i Mol Geniet 1994;3:639-4 1.","journal-title":"Hun"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/ng0494-331","article-title":"one. Unequal expression of NFl alleles","volume":"6","year":"1994","unstructured":"Hoffmeyer 5, Assum G, Kaufmann D, KrW one. Unequal expression of NFl alleles. Nature Geniet 1994;6:331.","journal-title":"Nature Geniet"},{"issue":"4","key":"ref_136","first-page":"975","article-title":"truncating mutations in the neurogene","volume":"1995","unstructured":"truncating mutations in the neurogene. Hun, Mol Genet 1995,4:975-81.","journal-title":"Hun, Mol Genet"},{"key":"ref_137","article-title":"NFl Genetic Analysis Consortium. Newsletter. Communicated by Dr Bruce Korf of","year":"1995","unstructured":"NFl Genetic Analysis Consortium. Newsletter. Communicated by Dr Bruce Korf of Harvard Medical School, USA, June 1995."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1159\/000132931","article-title":"Formation of a minichromosome by excision of the proximal region of 1 7q in a patient with von Recklinghausen neurofibromatosis","volume":"53","author":"Andersen, L.B.; Tommerup, N.; Koch, J.","year":"1990","unstructured":"Andersen LB, Tommerup N, Koch J. Formation of a minichromosome by excision of the proximal region of 1 7q in a patient with von Recklinghausen neurofibromatosis. Cytogenet Cell Genet 1990;53:206-10.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_139","first-page":"97","article-title":"A type 1 deletion in the 5'-region of the neurofibromatosis (NF1) gene","volume-title":"Hun, Genet","author":"W.","year":"1994","unstructured":"W. A type 1 deletion in the 5'-region of the neurofibromatosis (NF1) gene. Hun, Genet 1994,94:97-100."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/1.9.735","article-title":"Analysis of mutations at the neurofibromatosis 1 (NFl) locus","volume":"1","author":"Upadhyaya, M.; Shen, M.H.; Cherryson, A.","year":"1992","unstructured":"Upadhyaya M, Shen MH, Cherryson A, et al. Analysis of mutations at the neurofibromatosis 1 (NFl) locus. H,on, Mol Gen,et 1992;1:735-40.","journal-title":"H, on, Mol Gen, et"},{"key":"ref_141","first-page":"738","article-title":"A 90 kb deletion associated with neurofibromatosis type 1","volume":"27","author":"Upadhyaya, M.; Cherryson, A.; Broadhead, W.","year":"1990","unstructured":"Upadhyaya M, Cherryson A, Broadhead W, et al. A 90 kb deletion associated with neurofibromatosis type 1.Y Med Lazaro Getnet 1990;27:738-41.","journal-title":"Y Med Lazaro Getnet"},{"key":"ref_142","first-page":"725","article-title":"Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type1 (NFl) gene","author":"C, Gaona A.; A, Ravella","year":"1993","unstructured":"C, Gaona A, Ravella A, et al. Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type1 (NFl) gene. H,i,,n Mol Ge,,et 1993,2: 725-30."},{"key":"ref_143","first-page":"864","article-title":"A de novo Alu insertion results in neurofibromatosis","volume":"353","author":"Wallace, M.R.; Andersen, L.B.; Saulino, A.M.; Gregory, P.E.; Glover, T.W.; Collins, F.S.","year":"1991","unstructured":"Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS. A de novo Alu insertion results in neurofibromatosis. Natzure 1991;353:864-6.","journal-title":"Natzure"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1093\/hmg\/2.7.1057","article-title":"A new disease-causing mutation in the GAP-related domain of the NFI gene","volume":"2","author":"Anglani, F.; Murgia, A.; BedinS","year":"1993","unstructured":"Anglani F, Murgia A, BedinS, et al. A new disease-causing mutation in the GAP-related domain of the NFI gene. Hun, Mol Genet 1993;2:1057-9.","journal-title":"Hun, Mol Genet"},{"key":"ref_145","first-page":"1709","article-title":"Characterisation of a single base-pair deletion in neurofibromatosis type 1","volume":"2","author":"Colman, S.D.; Collins, F.S.; Wallace, M.R.","year":"1993","unstructured":"Colman SD, Collins FS, Wallace MR. Characterisation of a single base-pair deletion in neurofibromatosis type 1. Hun, Mol Geniet 1993;2:1709-11."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1007\/BF01247346","article-title":"A de novo nonsense mutation in exon 28 of the neurofibromatosis type1 (NFI) gene","volume":"92","author":"Shen, M.H.; Upadhyaya, M.","year":"1993","unstructured":"Shen MH, Upadhyaya M. A de novo nonsense mutation in exon 28 of the neurofibromatosis type1 (NFI) gene. Hun, Genet 1993;92:410-12.","journal-title":"Hun, Genet"},{"key":"ref_147","first-page":"1","article-title":"the Two novel NFl gene detected by SSCP analysis","volume":"\"iet\" # \"2: 149\"","author":"2: 149","year":"1993","unstructured":"ZmhuotnagtiJo,nsS:pie5g1e0l8Rd,elBoAlGtsahanudse5rE81,6iSncshGmiind W. the Two novel NFl gene detected by SSCP analysis. Mol Ge,iet 1993;2:149 1-","journal-title":"Mol Ge"},{"key":"ref_148","first-page":"685","article-title":"A small deletion and an a potential stem-loop region of the neurofibromatosis1 gene","volume":"i","author":"W.","year":"1991","unstructured":"W. A small deletion and an a potential stem-loop region of the neurofibromatosis1 gene. Hun,i Ge,,et 1991;87: 685-7.","journal-title":"Hun"},{"key":"ref_149","first-page":"114","article-title":"Deletions in exon 34 of the neurofibromatosis1 gene","volume-title":"An, Y H, o,, Genet Suippl","volume":"51","author":"Stephens, K.; Riccardi, V.M.; Ehrlich, P.","year":"1992","unstructured":"Stephens K, Riccardi VM, Ehrlich P. Deletions in exon 34 of the neurofibromatosis1 gene. An,Y H,o,, Genet Suippl 1992;51:114."},{"key":"ref_150","first-page":"90","article-title":"Tandem duplication with a neurofibromatosis type1 (NFl) gene exon in a family with features of Watson syndrome and Noonan syndrome","volume":"53","author":"Tassabehji, M.; Strachan, T.; Sharland, M.","year":"1993","unstructured":"Tassabehji M, Strachan T, Sharland M, et al. Tandem duplication with a neurofibromatosis type1 (NFl) gene exon in a family with features of Watson syndrome and Noonan syndrome. An,7i Huni, Genet 1993;53:90-5."},{"key":"ref_151","author":"C, Casals T, Ravella","unstructured":";3:829-30. C, Casals T, Ravella"},{"key":"ref_152","first-page":"185","article-title":"Recurrence of a nonsense mutation in the NFl gene causing neurofibromatosis type 1. HunG, enet","volume":"88","year":"1991","unstructured":"Recurrence of a nonsense mutation in the NFl gene causing neurofibromatosis type 1. HunG, enet 1991;88:185-8."},{"key":"ref_153","first-page":"1179","article-title":"Characterization of an intron 31 splicjeunction mutation in the neurofibromatosis typ1e (NF 1) gene","volume":"3","author":"Ainsworth, P.; Rodenhiser, D.; Stuart, A.; Jung, J.","year":"1994","unstructured":"Ainsworth P, Rodenhiser D, Stuart A, Jung J. Characterization of an intron 31 splicjeunction mutation in the neurofibromatosis typ1e (NF 1) gene. Hu,, M,sl Genet 1994;3:1179-81."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1093\/hmg\/3.4.663","article-title":"Morris Exon skipping associated with A-G transition at +4 of tIheVS33 splice donor site of the neurofibromatosis type 1 (NFl) gene","volume":"3","author":"MA. 158 Hutter P, Antonarakis SE, Delozier-Blanchet CD","year":"1994","unstructured":"MA. 158 Hutter P, Antonarakis SE, Delozier-Blanchet CD, Morris Exon skipping associated with A-G transition at +4 of tIheVS33 splice donor site of the neurofibromatosis type 1 (NFl) gene. Hun, Mol Geniet 1994;3:663-5.","journal-title":"Hun, Mol Geniet"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"2935","DOI":"10.1073\/pnas.89.7.2935","article-title":"BYanCsolenirm, ge, aaSIsJnuv, resatBbel1ne9z8l8eE; vJe8l2sJ:r.5of5~7-m-gu6lt1oa.bnitn messenger RNA in vivo. nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability","volume":"89","year":"1992","unstructured":"BYanCsolenirm,ge,aaSIsJnuv,resatBbel1ne9z8l8eE;vJe8l2sJ:r.5of5~7-m-gu6lt1oa.bnitn messenger RNA in vivo. nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci USA 1992;89: 2935-9.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_156","first-page":"1880","article-title":"Severe deficiency of cystic-fibrosis transmembrane conductance regulator ww163x messenger RNA carrying nonsense mutatiron5s53x and in respiratory epithelial cells of patients with cystic-fibrosis","volume-title":"_I Clin, Invest","volume":"88","author":"Hamosh, A.; Trapnell, B.C.; Zeitlin, P.L.","year":"1991","unstructured":"Hamosh A, Trapnell BC, Zeitlin PL, et al. Severe deficiency of cystic-fibrosis transmembrane conductance regulator ww163x messenger RNA carrying nonsense mutatiron5s53x and in respiratory epithelial cells of patients with cystic-fibrosis. _I Clin, Invest 1991;88:1880-5."},{"key":"ref_157","first-page":"658","article-title":"A nonsense mutation causing decreased levels of insulin receptor messenger RNA-detection by a simplified technique for direct se- Natl quencing of genomic DNA amplified by the","volume-title":"polymerase chain reaction. Proc Acad Sci USA","volume":"87","author":"Kadowaki, T.; Kadowaki, H.; Taylor, S.I.","year":"1990","unstructured":"Kadowaki T, Kadowaki H, Taylor SI. A nonsense mutation causing decreased levels of insulin receptor messenger RNA-detection by a simplified technique for direct se- Natl quencing of genomic DNA amplified by the polymerase chain reaction. Proc Acad Sci USA 1990;87:658-62."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/j.1460-2075.1985.tb03636.x","article-title":"Consequences of frameshift mutations at the immunoglobulin heavy-chain locus of the mouse","volume":"4","author":"Baumann, B.; Potash, M.J.; Kohler, G.","year":"1985","unstructured":"Baumann B, Potash MJ, Kohler G. Consequences of frameshift mutations at the immunoglobulin heavy-chain locus of the mouse. EMBO Y 1985;4:351-9.","journal-title":"EMBO Y"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1002\/j.1460-2075.1989.tb08401.x","article-title":"Lim 5, Mullins JJ, Chen CM, Gross KW, Maquat LE. Novel metabolism of several beta-thalassemic beta-globin messenger RNAs in the erythroid tissues of transgenic mice","volume":"8","year":"1989","unstructured":"Lim 5, Mullins JJ, Chen CM, Gross KW, Maquat LE. Novel metabolism of several beta-thalassemic beta-globin messenger RNAs in the erythroid tissues of transgenic mice. EMBOJ_ 1989;8:2613-19.","journal-title":"EMBOJ_"},{"key":"ref_160","first-page":"2868","article-title":"Nonsense Mol mutations in the dihydrofolate reductase gene affect RNA processing","volume":"9","author":"Urlaub, G.; Mitchell, P.J.; Ciudad, C.J.; Chasmn, L.A.","year":"1989","unstructured":"Urlaub G, Mitchell PJ, Ciudad CJ, Chasmn LA. Nonsense Mol mutations in the dihydrofolate reductase gene affect RNA processing. Cell Biol 1989;9:2868-80.","journal-title":"Cell Biol"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"2242","DOI":"10.1182\/blood.V76.11.2242.2242","article-title":"The molecular genetic analysis of haemophilia A: a directed strategv for the detection of point mutations in the human factor VIII gene","volume":"76","author":"Pattinson, J.K.; Millar, D.S.; McVey, J.H.","year":"1990","unstructured":"Pattinson JK, Millar DS, McVey JH, et al. The molecular genetic analysis of haemophilia A: a directed strategv for the detection of point mutations in the human factor VIII gene. Blood 1990;76:2242-8.","journal-title":"Blood"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/eye.1992.2","article-title":"Rhodopsin and autosomal dominant retinitis pigmentosa","volume":"6","author":"Dryja, T.P.","year":"1992","unstructured":"Dryja TP. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye 1992;6:1-10.","journal-title":"Eye"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF01534590","article-title":"Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement","volume":"14","author":"Yang, T.P.; Stout, J.T.; Konecki, D.S.; Patel, P.I.; Alford, R.L.; Caskey, C.T.","year":"1988","unstructured":"Yang TP, Stout JT, Konecki DS, Patel PI, Alford RL, Caskey CT. Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Som Cell Mol Genet 1988;14:293-303.","journal-title":"Som Cell Mol Genet"},{"key":"ref_164","first-page":"188","article-title":"A molecular survey of hypoxanthineguanine phosphoribosyltransferase deficiency in man. ]f Clin Invest","volume":"77","author":"Wilson, J.M.; Stout, J.T.; Palella, T.D.; Davidson, B.L.; Kelley, W.N.; Caskey, C.T.","year":"1986","unstructured":"Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT. A molecular survey of hypoxanthineguanine phosphoribosyltransferase deficiency in man. ]f Clin Invest 1986;77:188-95."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"3889","DOI":"10.1073\/pnas.87.10.3889","article-title":"Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia","volume":"87","author":"Tiller, G.E.; Rimoin, D.L.; Murray, L.W.; Cohn, D.H.","year":"1990","unstructured":"Tiller GE, Rimoin DL, Murray LW, Cohn DH. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc Natl Acad Sci USA 1990;87:3889-93.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/337283a0","article-title":"Mutation rates differ among regions of the mammalian genome","volume":"337","author":"Wolfe, K.H.; Sharp, P.M.; Li, W.H.","year":"1989","unstructured":"Wolfe KH, Sharp PM, Li WH. Mutation rates differ among regions of the mammalian genome. Nature 1989;337: 283-5.","journal-title":"Nature"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1093\/hmg\/2.2.173","article-title":"Genomic position influences spontaneous mutagenesis of an integrated retroviral vector containing the hprt cDNA as target for mutagenesis","volume":"2","author":"Lichtenauer-Kaligis, E.G.R.; van der Velde-van Dijke, I.; den Dulk, H.; van de Putte, P.; Giphart-Gassler, M.; de Jong, J.G.T.","year":"1993","unstructured":"Lichtenauer-Kaligis EGR, van der Velde-van Dijke I, den Dulk H, van de Putte P, Giphart-Gassler M, de Jong JGT. Genomic position influences spontaneous mutagenesis of an integrated retroviral vector containing the hprt cDNA as target for mutagenesis. Hum Mol Genet 1993;2: 173-82.","journal-title":"Hum Mol Genet"},{"key":"ref_168","first-page":"5574","article-title":"The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions","volume":"85","author":"Cooper, D.N.; Krawczak, M.","year":"1990","unstructured":"Cooper DN, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 1990;85:5574.","journal-title":"Hum Genet"},{"key":"ref_169","first-page":"409","article-title":"Mechanisms of insertional mutagenesis in human genes causing genetic disease","volume":"87","author":"Cooper, D.N.; Krawczak, M.","year":"1991","unstructured":"Cooper DN, Krawczak M. Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 1991;87:409-15.","journal-title":"Hum Genet"},{"key":"ref_170","first-page":"425","article-title":"Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment","volume":"86","author":"Krawczak, M.; Cooper, D.N.","year":"1991","unstructured":"Krawczak M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 1991;86:425-44.","journal-title":"Hum Genet"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/274775a0","article-title":"Molecular basis of base substitution hotspots in Escherichia coli","volume":"274","author":"Coulondre, C.; Miller, J.H.; Farabaugh, P.J.; Gilbert, W.","year":"1978","unstructured":"Coulondre C, Miller JH, Farabaugh PJ, Gilbert W. Molecular basis of base substitution hotspots in Escherichia coli. Nature 1978;274:775-80.","journal-title":"Nature"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/hmg\/2.4.439","article-title":"Evidence of DNA methylation in the neurofibromatosis type 1 (NFl) gene region of 17q11.2","volume":"2","author":"Rodenhiser, D.I.; Coulter-Mackie, M.B.; Singh, S.M.","year":"1993","unstructured":"Rodenhiser DI, Coulter-Mackie MB, Singh SM. Evidence of DNA methylation in the neurofibromatosis type 1 (NFl) gene region of 17q11.2. Hum Mol Genet 1993;2: 439-44.","journal-title":"Hum Mol Genet"},{"key":"ref_173","first-page":"301","article-title":"and randomness: lessons from neurofibromatosis-1 (NFl)","volume":"53","author":"Genotype, Riccardi V.M.; malleotype, phenotype","year":"1993","unstructured":"Riccardi VM. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NFl). Am JtHum Genet 1993;53:301-4.","journal-title":"Am JtHum Genet"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"4658","DOI":"10.1128\/MCB.10.9.4658","article-title":"Evi 2, a common integration site involved in murine myeloid leukemogenesis","volume":"10","author":"Buchberg, A.M.; Bedigan, H.G.; Jenkins, N.A.; Copeland, N.G.","year":"1990","unstructured":"Buchberg AM, Bedigan HG, Jenkins NA, Copeland NG. Evi 2, a common integration site involved in murine myeloid leukemogenesis. Mol Cell Biol 1990;10:4658-66.","journal-title":"Mol Cell Biol"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1001\/archpedi.1980.02130190022006","article-title":"Juvenile chronic granulocytic leukemia: emphasis of cutaneous manifestations and underlying neurofibromatosis","volume":"134","author":"Mays, J.A.; Neerhout, R.C.; Bagby, G.C.; Koler, R.D.","year":"1980","unstructured":"Mays JA, Neerhout RC, Bagby GC, Koler RD. Juvenile chronic granulocytic leukemia: emphasis of cutaneous manifestations and underlying neurofibromatosis. Am ]f Dis Child 1980;134:654-8.","journal-title":"Am ]f Dis Child"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/BF00303009","article-title":"Familial neurofibromatosis and juvenile chronic myelogenous leukemia","volume":"60","author":"Clark, R.D.; JJ, Jr, Hutter","year":"1982","unstructured":"Clark RD, Hutter JJ Jr. Familial neurofibromatosis and juvenile chronic myelogenous leukemia. Hum Genet 1982; 60:230-2.","journal-title":"Hum Genet"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1056\/NEJM199403033300903","article-title":"Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders","volume":"330","author":"Shannon, M.K.; O'Connell, P.; Martin, G.A.","year":"1994","unstructured":"Shannon MK, O'Connell P, Martin GA, et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl _r Med 1994;330:597-601.","journal-title":"N Engl _r Med"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1083\/jcb.110.2.471","article-title":"The oligodendrocytemyelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate","volume":"110","author":"Mikol, D.; Gulcher, J.; Stefansson, K.","year":"1990","unstructured":"Mikol D, Gulcher J, Stefansson K. The oligodendrocytemyelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate. Cell Biol 1990; 110:471-80.","journal-title":"Cell Biol"},{"key":"ref_179","first-page":"424","article-title":"Disorders of myelin - natural history of multiple sclerosis","volume":"85","author":"Dick, G.","year":"1992","unstructured":"Dick G. Disorders of myelin - natural history of multiple sclerosis. _J R Soc Med 1992;85:424-5.","journal-title":"_J R Soc Med"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/0168-9525(93)90204-U","article-title":"Animal models of human genetic diseases","volume":"9","author":"0, Smithies","year":"1993","unstructured":"Smithies 0. Animal models of human genetic diseases. Trends Genet 1993;9:112-16.","journal-title":"Trends Genet"},{"key":"ref_181","first-page":"429","article-title":"The lethal prune\/killer-of-prune interaction of Drosophila causes a syndrome resembling human neurofibromatosis (NFl)","volume":"58","author":"Hackstein, J.H.","year":"1992","unstructured":"Hackstein JH. The lethal prune\/killer-of-prune interaction of Drosophila causes a syndrome resembling human neurofibromatosis (NFl). Eur] Cell Biol 1992;58:429-44.","journal-title":"Eur] Cell Biol"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1749-6632.1986.tb48092.x","article-title":"Neurofibromatosis in the bicolor damselfish as a model of von Recklinghausen neurofibromatosis","volume":"486","author":"Schmale, M.C.; Hensley, G.T.; Udey, L.R.","year":"1986","unstructured":"Schmale MC, Hensley GT, Udey LR. Neurofibromatosis in the bicolor damselfish as a model of von Recklinghausen neurofibromatosis. Ann NY Acad Sci 1986;486:386-402.","journal-title":"Ann NY Acad Sci"},{"key":"ref_183","first-page":"3828","article-title":"Transmissibility of a neurofibromatosis-like disease in bicolor damselfish","volume":"48","author":"Schmale, M.C.; Hensley, G.T.","year":"1988","unstructured":"Schmale MC, Hensley GT. Transmissibility of a neurofibromatosis-like disease in bicolor damselfish. Cancer Res 1988;48:3828-33.","journal-title":"Cancer Res"},{"key":"ref_184","first-page":"251","article-title":"Transplacental induction ofperipheral nervous tumour in the Syrian golden hamster by N-nitroso-N-ethylura","volume":"135","author":"Nakamura, T.; Hara, M.; Kasuga, T.","year":"1989","unstructured":"Nakamura T, Hara M, Kasuga T. Transplacental induction ofperipheral nervous tumour in the Syrian golden hamster by N-nitroso-N-ethylura. Am _7 Pathol 1989;135:251-9."},{"key":"ref_185","first-page":"976","article-title":"neu protooncogene mutation is specific for the neurofibromas in a N-nitroso-N-ethylura-induced hamster neurofibromatosis model but not for hamster melanomas and human Schwann cell tumors","volume":"54","author":"Nakamura, T.; Ushijima, T.; Ishizaka, Y.","year":"1994","unstructured":"Nakamura T, Ushijima T, Ishizaka Y, et al. neu protooncogene mutation is specific for the neurofibromas in a N-nitroso-N-ethylura-induced hamster neurofibromatosis model but not for hamster melanomas and human Schwann cell tumors. Cancer Res 1994;54:976-80.","journal-title":"Cancer Res"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1126\/science.2888191","article-title":"A transgenic mouse model for human neurofibromatosis","volume":"237","author":"Hinrichs, S.H.; Nerenberg, M.; Reynolds, R.K.; Khoury, G.; Jay, G.","year":"1987","unstructured":"Hinrichs SH, Nerenberg M, Reynolds RK, Khoury G, Jay G. A transgenic mouse model for human neurofibromatosis. Science 1987;237:1340-3.","journal-title":"Science"},{"key":"ref_187","first-page":"1401","article-title":"Adrenal medullary tumours and iris proliferation in a transgenic mouse model of neurofibromatosis","volume":"140","author":"Green, J.E.; Baird, A.M.; Hinrichs, S.H.; Klintworth, G.K.; Jay, G.","year":"1992","unstructured":"Green JE, Baird AM, Hinrichs SH, Klintworth GK, Jay G. Adrenal medullary tumours and iris proliferation in a transgenic mouse model of neurofibromatosis. Amii _rPathol 1992;140:1401-10.","journal-title":"Amii _rPathol"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1093\/hmg\/2.6.645","article-title":"Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments","volume":"2","author":"Bemards, A.; Snijders, A.J.; Hannigan, G.E.; Murthy, A.E.; Gusella, J.F.","year":"1993","unstructured":"Bemards A, Snijders AJ, Hannigan GE, Murthy AE, Gusella JF. Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. Hum Mol Genet 1993;2:645-50.","journal-title":"Hum Mol Genet"},{"key":"ref_189","first-page":"49","article-title":"DNA sequences in the promoter region of the NFI gene are highly conserved between human and mouse","volume":"1","author":"Hajra, A.; Martin-Gallardo, A.; Tarle, S.A.","year":"1994","unstructured":"Hajra A, Martin-Gallardo A, Tarle SA, et al. DNA sequences in the promoter region of the NFI gene are highly conserved between human and mouse. Genomics 1994;1:49-52.","journal-title":"Genomics"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng0794-353","article-title":"Tumour predisposition in. mice heterozygous for a targeted mutation in NF 1","volume":"7","author":"Jacks, T.; Shih, T.S.; Schmitt, E.M.; Bronson, R.T.; Bemards, A.; Weinberg, R.A.","year":"1994","unstructured":"Jacks T, Shih TS, Schmitt EM, Bronson RT, Bemards A, Weinberg RA. Tumour predisposition in. mice heterozygous for a targeted mutation in NF 1. Nature Genet 1994;7:353-61.","journal-title":"Nature Genet"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1101\/gad.8.9.1019","article-title":"Targeted disruption of the neurofibromatosis type-I gene leads to developmental abnormalities in heart and various neural crest-derived tissues","volume":"8","author":"Brannan, C.I.; Perkins, A.S.; Vogel, K.S.","year":"1994","unstructured":"Brannan CI, Perkins AS, Vogel KS, et al. Targeted disruption of the neurofibromatosis type-I gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994;8: 1019-29.","journal-title":"Genes Dev"},{"key":"ref_192","first-page":"943","article-title":"Diagnosis of neurofibromatosis 1 by using tightly linked flanking DNA markers","volume":"46","author":"Ward, K.; O'Connell, P.; Carey, J.C.","year":"1990","unstructured":"Ward K, O'Connell P, Carey JC, et al. Diagnosis of neurofibromatosis 1 by using tightly linked flanking DNA markers. Am J Hum Genet 1990;46:943-49.","journal-title":"Am J Hum Genet"},{"key":"ref_193","first-page":"394","article-title":"Familial neurofibromatosis type 1: clinical experience with DNA testing","volume":"120","author":"Hofman, K.J.; Boehm, C.D.","year":"1992","unstructured":"Hofman KJ, Boehm CD. Familial neurofibromatosis type 1: clinical experience with DNA testing. _7 Pediatr 1992; 120:394-8."},{"key":"ref_194","first-page":"180","article-title":"Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1","volume":"29","author":"Upadhyaya, M.; Fryer, A.; MacMillan, J.; Broadhead, W.; Huson, S.M.; Harper, P.S.","year":"1992","unstructured":"Upadhyaya M, Fryer A, MacMillan J, Broadhead W, Huson SM, Harper PS. Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. _7 Med Genet 1992;29:180-3."},{"key":"ref_195","first-page":"1038","article-title":"Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implication for gene mapping","volume":"53","author":"Jorde, L.B.; Watkins, W.S.; Viskochil, D.; O'Connell, P.; Ward, K.","year":"1993","unstructured":"Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K. Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implication for gene mapping. Am ] Hunm Genet 1993;53:1038-50.","journal-title":"Am"},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1093\/hmg\/2.4.485","article-title":"Lack of independence between five DNA polymorphisms in the NF1 gene","volume":"2","author":"Messiaen, L.; De Bie, S.; Moens, T.; Van den Enden, A.; Leroy, J.","year":"1993","unstructured":"Messiaen L, De Bie S, Moens T, Van den Enden A, Leroy J. Lack of independence between five DNA polymorphisms in the NF1 gene. Hum Mol Genet 1993;2: 485.","journal-title":"Hum Mol Genet"},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"3764","DOI":"10.1093\/nar\/19.13.3764","article-title":"An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)","volume":"19","author":"Xu, G.; Nelson, L.; O'Connell, P.; White, R.","year":"1991","unstructured":"Xu G, Nelson L, O'Connell P, White R. An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1). Nucleic Acids Res 1991;19:3764.","journal-title":"Nucleic Acids Res"},{"key":"ref_198","first-page":"429","article-title":"A highly informative CA\/GT repeat polymorphism in intron 38 of human neurofibromatosis type 1 (NF1) gene","volume":"92","author":"Lazaro, C.; Gaona, A.; Xu, G.; Weiss, R.; Estivill, X.","year":"1993","unstructured":"Lazaro C, Gaona A, Xu G, Weiss R, Estivill X. A highly informative CA\/GT repeat polymorphism in intron 38 of human neurofibromatosis type 1 (NF1) gene. Hunm Genet 1993;92:429-30.","journal-title":"Hunm Genet"},{"key":"ref_199","first-page":"51","article-title":"Two repeat CA\/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NFI) gene","volume":"3","author":"Lazaro, C.; Gaona, A.; Estivill, X.","year":"1994","unstructured":"Lazaro C, Gaona A, Estivill X. Two repeat CA\/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NFI) gene. Humn Genet 1994;3:51-2.","journal-title":"Humn Genet"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ajmg.1320600211","article-title":"Two single base polymorphisms in introns 41 and 16 of the NF1 gene","volume":"60","author":"Shen, M.H.; Upadhyaya, M.","year":"1995","unstructured":"Shen MH, Upadhyaya M. Two single base polymorphisms in introns 41 and 16 of the NF1 gene. Anm Med Genet 1995;60: 147-9.","journal-title":"Anm Med Genet"},{"key":"ref_201","first-page":"241","article-title":"A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NFI) gene","volume":"95","author":"Rodenhiser, D.; Hovland, K.","year":"1995","unstructured":"Rodenhiser D, Hovland K. A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NFI) gene. Hum Genet 1995;95:241-2.","journal-title":"Hum Genet"},{"key":"ref_202","first-page":"481","article-title":"An RsaI polymorphism in the neurofibromatosis (NF1) gene","volume":"93","author":"Hoffmeyer, S.; Assum, G.","year":"1994","unstructured":"Hoffmeyer S, Assum G. An RsaI polymorphism in the neurofibromatosis (NF1) gene. Hum Genet 1994;93:481-2.","journal-title":"Hum Genet"},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"3754","DOI":"10.1093\/nar\/19.13.3754","article-title":"A polymorphic cDNA probe in the NFl gene","volume":"19","author":"Andersen, L.B.; Wallace, M.R.; Marchuk, D.A.","year":"1991","unstructured":"Andersen LB, Wallace MR, Marchuk DA, et al. A polymorphic cDNA probe in the NFl gene. Nucleic Acids Res 1991;19:3754.","journal-title":"Nucleic Acids Res"},{"key":"ref_204","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/19.1.197-a","article-title":"A polymorphic cDNA probe on chromosome 17qII.2 located within the NFl gene (D17S376)","author":"Andersen, L.B.; Wallace, M.R.; Marchuk, D.A.","year":"1991","unstructured":"Andersen LB, Wallace MR, Marchuk DA, et al. A polymorphic cDNA probe on chromosome 17qII.2 located within the NFl gene (D17S376). Nucleic Acids Res 1991; 19:197.","journal-title":"Nucleic Acids Res"},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1093\/nar\/19.9.2520","article-title":"A BamHI polymorphism in the human EVI2A gene (human homology of the murine gene Evi-2)","volume":"19","author":"Xu, W.; Liu, L.; Ponder, B.A.J.","year":"1991","unstructured":"Xu W, Liu L, Ponder BAJ. A BamHI polymorphism in the human EVI2A gene (human homology of the murine gene Evi-2). Nucleic Acids Res 1991;19:2520.","journal-title":"Nucleic Acids Res"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1007\/BF00420953","article-title":"An EcoRI RFLP in the 5' region of the human NFl gene","volume":"92","author":"Reyniers, E.; De Boulle, K.; Marchuk, D.A.; Andersen, L.B.; Collins, F.S.; Willems, P.J.","year":"1993","unstructured":"Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ. An EcoRI RFLP in the 5' region of the human NFl gene. Hum Genet 1993;92:631.","journal-title":"Hum Genet"},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1093\/hmg\/2.7.1083-a","article-title":"A compound nucleotide repeat in the neurofibromatosis (NFl) gene","volume":"2","author":"Andersen, L.B.; Tarle, S.A.; Marchuk, D.A.; Legius, E.; Collins, F.S.","year":"1993","unstructured":"Andersen LB, Tarle SA, Marchuk DA, Legius E, Collins FS. A compound nucleotide repeat in the neurofibromatosis (NFl) gene. Hum Mol Genet 1993;2:1083.","journal-title":"Hum Mol Genet"},{"key":"ref_208","first-page":"11368","article-title":"Cloning and expression of a cDNA encoding the a-subunit of rat","volume-title":"p21... protein famesyltransferase. Proc latl Acad Sci","volume":"88","author":"Chen, W.J.; Andres, D.A.; Goldstein, J.L.; Brown, M.S.","year":"1991","unstructured":"Chen WJ, Andres DA, Goldstein JL, Brown MS. Cloning and expression of a cDNA encoding the a-subunit of rat p21... protein famesyltransferase. Proc latl Acad Sci USA 1991;88:11368-72."},{"key":"ref_209","first-page":"8934","article-title":"Posttranslational modification of Ha-ras p21 by famesyl versus geranylgeranyl isoprenoids is determined by the","volume-title":"COOHterminal amino acid. Proc Natl Acad Sci","volume":"88","author":"Kinsella, B.T.; Erdman, R.A.; Maltese, W.A.","year":"1991","unstructured":"Kinsella BT, Erdman RA, Maltese WA. Posttranslational modification of Ha-ras p21 by famesyl versus geranylgeranyl isoprenoids is determined by the COOHterminal amino acid. Proc Natl Acad Sci USA 1991;88: 8934-8."},{"key":"ref_210","first-page":"795","article-title":"Ras isoprenylation is required for ras-induced neuronal differentiation of PC12 cells","volume":"115","author":"Qiu, M.S.; Pitts, A.F.; Winters, T.R.; Green, S.H.","year":"1991","unstructured":"Qiu MS, Pitts AF, Winters TR, Green SH. Ras isoprenylation is required for ras-induced neuronal differentiation of PC12 cells. _7 Cell Biol 1991;115:795-808."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0092-8674(91)90352-Y","article-title":"Ras C-terminal processing enzymes - new drug targets?","volume":"65","author":"Gibbs, J.B.","year":"1991","unstructured":"Gibbs JB. Ras C-terminal processing enzymes - new drug targets? Cell 1991;65:1-4.","journal-title":"Cell"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.1.2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:58:22Z","timestamp":1760738302000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.1.2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,1]]},"references-count":211,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1996,1,1]]},"published-print":{"date-parts":[[1996,1]]}},"alternative-id":["10.1136\/jmg.33.1.2"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.1.2","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,1]]}}}