{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:22:45Z","timestamp":1791062565439,"version":"4.1.0"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1992,9,1]],"date-time":"1992-09-01T00:00:00Z","timestamp":715305600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1992,9]]},"DOI":"10.1038\/ng0992-37","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:42:15Z","timestamp":1092861735000},"page":"37-41","source":"Crossref","is-referenced-by-count":271,"title":["Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease"],"prefix":"10.1038","volume":"2","author":[{"given":"R. S.","family":"Kandt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Haines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. J. M.","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. P.","family":"Short","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Dumars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. S.","family":"Roach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Steingold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. H.","family":"Blanton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Flodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. J.","family":"Kwiatkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Jewell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. D.","family":"Roses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Pericak-Vance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng099237_CR1","volume-title":"Tuberous sclerosis","author":"MR Gomez","year":"1988","unstructured":"Gomez, M.R. Tuberous sclerosis edn 2 (Raven Press, New York, 1988)."},{"key":"BFng099237_CR2","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1212\/WNL.35.4.600","volume":"35","author":"WC Wiederholt","year":"1985","unstructured":"Wiederholt, W.C., Gomez, M.R. & Kurland, L.T. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology 35, 600\u2013603 (1985).","journal-title":"Neurology"},{"key":"BFng099237_CR3","first-page":"1075","volume":"2","author":"CC Santos","year":"1990","unstructured":"Santos, C.C. & Kandt, R.S. Recent advances in neurocutaneous syndromes. Curr. Opin Pediatr. 2, 1075\u20131082 (1990).","journal-title":"Curr. Opin Pediatr."},{"key":"BFng099237_CR4","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1016\/S0140-6736(87)90416-8","volume":"1","author":"AE Fryer","year":"1987","unstructured":"Fryer, A.E. et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1, 659\u2013661 (1987).","journal-title":"Lancet"},{"key":"BFng099237_CR5","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1136\/jmg.24.9.544","volume":"24","author":"JM Connor","year":"1987","unstructured":"Connor, J.M., Pirrit, L.A., Yates, J.R.W., Fryer, A.E. & Ferguson-Smith, M.A. Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. J. med. Genet. 24, 544\u2013546 (1987).","journal-title":"J. med. Genet."},{"key":"BFng099237_CR6","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1016\/S0140-6736(87)92543-8","volume":"2","author":"H Northrup","year":"1987","unstructured":"Northrup, H. et al. Linkage of tuberous sclerosis to ABO blood group. Lancet 2, 804\u2013805 (1987).","journal-title":"Lancet"},{"key":"BFng099237_CR7","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/0014-4886(89)90033-2","volume":"104","author":"RS Kandt","year":"1989","unstructured":"Kandt, R.S. et al. Absence of linkage of ABO blood group locus to familial tuberous sclerosis. Exp. Neurol. 104, 223\u2013228 (1989).","journal-title":"Exp. Neurol."},{"key":"BFng099237_CR8","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/S0140-6736(88)92568-8","volume":"2","author":"S Povey","year":"1988","unstructured":"Povey, S. et al. Genetic recombination between tuberous sclerosis and oncogene v-abl. Lancet 2, 279\u2013280 (1988).","journal-title":"Lancet"},{"key":"BFng099237_CR9","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/0888-7543(90)90454-3","volume":"6","author":"M Smith","year":"1990","unstructured":"Smith, M. et al. Mapping of a gene determining tuberous sclerosis to human chromosome 11 q14-11q23. Genomics 6, 105\u2013114 (1990).","journal-title":"Genomics"},{"key":"BFng099237_CR10","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1111\/j.1749-6632.1991.tb37767.x","volume":"615","author":"JL Haines","year":"1991","unstructured":"Haines, J.L. et al. Genetic heterogeneity in tuberous sclerosis: study of a large collaborative dataset. Ann. N. Y. Acad. Sci. 615, 256\u2013264 (1991).","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"BFng099237_CR11","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1111\/j.1749-6632.1991.tb37772.x","volume":"615","author":"LA Janssen","year":"1991","unstructured":"Janssen, L.A. et al. A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23. Ann. N. Y. Acad. Sci. 615, 306\u2013315 (1991).","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"BFng099237_CR12","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1111\/j.1749-6632.1991.tb37771.x","volume":"615","author":"S Povey","year":"1991","unstructured":"Povey, S. et al. An attempt to map two genes for tuberous sclerosis using novel two-point methods. Ann. N. Y. Acad. Sci. 615, 298\u2013305 (1991).","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"BFng099237_CR13","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1111\/j.1749-6632.1991.tb37770.x","volume":"615","author":"RS Kandt","year":"1991","unstructured":"Kandt, R.S. et al. Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14. Ann. N. Y. Acad. Sci. 615, 284\u2013297 (1991).","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"BFng099237_CR14","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1136\/jmg.26.8.511","volume":"26","author":"JR Sampson","year":"1989","unstructured":"Sampson, J.R. et al. Evidence for genetic heterogeneity in tuberous sclerosis. J. med. Genet. 26, 511\u2013516 (1989).","journal-title":"J. med. Genet."},{"key":"BFng099237_CR15","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/0888-7543(90)90277-2","volume":"8","author":"LA Janssen","year":"1990","unstructured":"Janssen, L.A. et al. Genetic heterogeneity in tuberous sclerosis. Genomics 8, 237\u2013242 (1990).","journal-title":"Genomics"},{"key":"BFng099237_CR16","first-page":"764","volume":"49","author":"JL Haines","year":"1991","unstructured":"Haines, J.L. et al. Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am. J. hum. Genet. 49, 764\u2013772 (1991).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099237_CR17","doi-asserted-by":"crossref","unstructured":"Povey, S. et al. Report on the first international workshop on chromosome 9 held at Girton College, Cambridge, UK, March 22\u201324, 1992. Ann. hum. Genet. (in the press).","DOI":"10.1111\/j.1469-1809.1992.tb01145.x"},{"key":"BFng099237_CR18","unstructured":"Burley, M.W., Attwood, J., Kwiatkowski, D. & Povey, S. The search for TSCI on chromosome 9q34. Abstract 6. Ann. hum. Genet. (in the press)."},{"key":"BFng099237_CR19","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/BF00204934","volume":"88","author":"R Fahsold","year":"1991","unstructured":"Fahsold, R., Rott, H.D. & Lorenz, P. A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus. Hum. Genet. 88, 85\u201390 (1991).","journal-title":"Hum. Genet."},{"key":"BFng099237_CR20","unstructured":"Haines, J.L. et al. Linkage analysis in tuberous sclerosis: further localization on chromosome 9 and search for other TSC genes. Abstract 18. Ann. hum. Genet. (in the press)."},{"key":"BFng099237_CR21","unstructured":"Kandt, R.S. et al. Linkage studies in tuberous sclerosis. Abstract 29. Ann. hum. Genet. (in the press)."},{"key":"BFng099237_CR22","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.1016\/0140-6736(91)92300-Q","volume":"338","author":"PC Harris","year":"1991","unstructured":"Harris, P.C. et al. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338, 1484\u20131487 (1991).","journal-title":"Lancet"},{"key":"BFng099237_CR23","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1016\/S0025-6196(12)61196-3","volume":"66","author":"CW Shepherd","year":"1991","unstructured":"Shepherd, C.W., Gomez, M.R., Lie, J.T. & Crowson, C.S. Causes of death in patients with tuberous sclerosis. Mayo Clin. Proc. 66, 792\u2013796 (1991).","journal-title":"Mayo Clin. Proc."},{"key":"BFng099237_CR24","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1016\/S0022-3476(80)80011-4","volume":"97","author":"FB Stapleton","year":"1980","unstructured":"Stapleton, F.B., Johnson, D., Kaplan, G.W. & Griswold, W. The cystic renal lesion in tuberous sclerosis. J. Pediatr. 97, 574\u2013579 (1980).","journal-title":"J. Pediatr."},{"key":"BFng099237_CR25","first-page":"35","volume":"10","author":"J Bernstein","year":"1974","unstructured":"Bernstein, J., Brough, A.J. & McAdams, A.J. The renal lesion in syndromes of multiple congenital malformations: cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. Birth Defects: Original Article Series 10, 35\u201343 (1974).","journal-title":"Birth Defects: Original Article Series"},{"key":"BFng099237_CR26","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1038\/ng0492-7","volume":"1","author":"RI Richards","year":"1992","unstructured":"Richards, R.I. & Sutherland, G.R. Heritable unstable DNA sequences. Nature Genet. 1, 7\u20139 (1992).","journal-title":"Nature Genet."},{"key":"BFng099237_CR27","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/355545a0","volume":"355","author":"HG Harley","year":"1992","unstructured":"Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545\u2013546 (1992).","journal-title":"Nature"},{"key":"BFng099237_CR28","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1038\/355547a0","volume":"355","author":"J Buxton","year":"1992","unstructured":"Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547\u2013548 (1992).","journal-title":"Nature"},{"key":"BFng099237_CR29","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1038\/355548a0","volume":"355","author":"C Aslanidis","year":"1992","unstructured":"Aslanidis, C. et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355, 548\u2013551 (1992).","journal-title":"Nature"},{"key":"BFng099237_CR30","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1126\/science.252.5009.1097","volume":"252","author":"I Oberle","year":"1991","unstructured":"Oberle, I. et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097\u20131102 (1991).","journal-title":"Science"},{"key":"BFng099237_CR31","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/352077a0","volume":"352","author":"AR La Spada","year":"1991","unstructured":"La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77\u201379 (1991).","journal-title":"Nature"},{"key":"BFng099237_CR32","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1016\/0888-7543(92)90214-D","volume":"13","author":"GG Germino","year":"1992","unstructured":"Germino, G.G. et al. The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13, 144\u2013151 (1992).","journal-title":"Genomics"},{"key":"BFng099237_CR33","first-page":"388","volume":"44","author":"JL Weber","year":"1989","unstructured":"Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can by typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388\u2013396 (1989).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099237_CR34","first-page":"121","volume":"48","author":"DJ Kwiatkowski","year":"1991","unstructured":"Kwiatkowski, D.J. et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am. J. hum. Genet. 48, 121\u2013128 (1991).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099237_CR35","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/0888-7543(92)90370-8","volume":"12","author":"DJ Kwiatkowski","year":"1992","unstructured":"Kwiatkowski, D.J. et al. Construction of a GT polymorphism map of human 9q. Genomics 12, 229\u2013240 (1992).","journal-title":"Genomics"},{"key":"BFng099237_CR36","doi-asserted-by":"publisher","first-page":"5921","DOI":"10.1093\/nar\/18.19.5921-a","volume":"18","author":"M Litt","year":"1990","unstructured":"Litt, M., Sharma, V. & Luty, J.A. Dinucleotide repeat polymorphism at the D11S35 locus. Nucleic Acids Res. 18, 5921 (1990).","journal-title":"Nucleic Acids Res."},{"key":"BFng099237_CR37","doi-asserted-by":"publisher","first-page":"1959","DOI":"10.1093\/nar\/19.8.1959","volume":"19","author":"N Wedemeyer","year":"1991","unstructured":"Wedemeyer, N., Dworniczak, B. & Horst, J. PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res. 19, 1959 (1991).","journal-title":"Nucleic Acids Res."},{"key":"BFng099237_CR38","first-page":"1958","volume":"19","author":"B Dworniczak","year":"1991","unstructured":"Dworniczak, B., Wedemeyer, N., Eigel, A. & Horst, J. PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res. 19, 1958 (1991).","journal-title":"Nucleic Acids Res."},{"key":"BFng099237_CR39","first-page":"1958","volume":"19","author":"B Dworniczak","year":"1991","unstructured":"Dworniczak, B., Wedemeyer, N. & Horst, J. PCR detection of the BgIII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res. 19, 1958 (1991).","journal-title":"Nucleic Acids Res."},{"key":"BFng099237_CR40","first-page":"3103","volume":"18","author":"LB Glebel","year":"1990","unstructured":"Glebel, L.B. & Spritz, R.A. RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucl. Acids Res. 18, 3103 (1990).","journal-title":"Nucl. Acids Res."},{"key":"BFng099237_CR41","first-page":"460","volume":"36","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460\u2013465 (1984).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099237_CR42","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1159\/000132186","volume":"40","author":"PM Conneally","year":"1985","unstructured":"Conneally, P.M., et al. Report of the committee on methods of linkage analysis and reporting. HGM8. Cytogenet. Cell Genet. 40, 356\u2013359 (1985).","journal-title":"Cytogenet. Cell Genet."},{"key":"BFng099237_CR43","first-page":"482","volume":"37","author":"GM Lathrop","year":"1985","unstructured":"Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482\u2013498 (1985).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099237_CR44","first-page":"1939","volume":"58","author":"JL Haines","year":"1991","unstructured":"Haines, J.L. et al. Heterogeneity in tuberous sclerosis: localization of TSC1 to 9q34 and linkage analysis with 11q and 14 markers. Cytogenet. Cell Genet. 58, 1939\u20131940 (1991).","journal-title":"Cytogenet. Cell Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0992-37","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0992-37.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0992-37.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:57:08Z","timestamp":1684443428000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0992-37"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["BFng099237"],"URL":"https:\/\/doi.org\/10.1038\/ng0992-37","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}