{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:07:39Z","timestamp":1698066459208},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1987,4,1]],"date-time":"1987-04-01T00:00:00Z","timestamp":544233600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1987,4]]},"DOI":"10.1007\/bf00284100","type":"journal-article","created":{"date-parts":[[2004,10,4]],"date-time":"2004-10-04T01:02:00Z","timestamp":1096851720000},"page":"311-321","source":"Crossref","is-referenced-by-count":46,"title":["Further evidence for genetic heterogeneity in the fragile X syndrome"],"prefix":"10.1007","volume":"75","author":[{"given":"W. T.","family":"Brown","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. C.","family":"Jenkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. C.","family":"Gross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. B.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. S.","family":"Krawczun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. J.","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. L.","family":"Sklower","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. S.","family":"Fisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","first-page":"808","volume":"36","author":"SJ Bale","year":"1984","unstructured":"Bale SJ, Chakravarti A, Ferrell RE, Spence MA (1984) Possible heterogeneity in the phosphoglycolate phosphatase (PGP)-haptoglobin alpha (HPA) linkage. Am J Hum Genet 36:808?814","journal-title":"Am J Hum Genet"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/BF00285404","volume":"61","author":"R Brookwell","year":"1983","unstructured":"Brookwell R, Turner G (1983) High resolution banding and the locus of the Xq fragile site. Hum Genet 61:77","journal-title":"Hum Genet"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF00295659","volume":"71","author":"WT Brown","year":"1985","unstructured":"Brown WT, Gross AC, Chan CB, Jenkins EC (1985) Genetic linkage heterogeneity in the fragile X syndrome. Hum Genet 71:11?18","journal-title":"Hum Genet"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/ajmg.1320230158","volume":"23","author":"WT Brown","year":"1986","unstructured":"Brown WT, Gross AC, Chan CB, Jenkins EC (1986) DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity. Am J Med Genet 23:643?664","journal-title":"Am J Med Genet"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/306701a0","volume":"306","author":"G Camerino","year":"1983","unstructured":"Camerino G, Mattei MG, Mattei JF, Jaye M, Mandel JL (1983) Close linkage of fragile X linked mental retardation syndrome to haemophilia B and transmission through a normal male. Nature 306: 701?707","journal-title":"Nature"},{"key":"CR6","first-page":"836","volume-title":"The genetics of human populations","author":"LL Cavalli-Sforza","year":"1971","unstructured":"Cavalli-Sforza LL, Bodmer WF (1971) The genetics of human populations. Freeman, San Francisco, pp 836?840"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/S0140-6736(84)92715-6","volume":"1","author":"KH Choo","year":"1984","unstructured":"Choo KH, George D, Filby G, Halliday, JL, Leversha M, Webb G, Danks DM (1984) Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe. Lancet 1:349","journal-title":"Lancet"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF00273451","volume":"70","author":"KE Davies","year":"1985","unstructured":"Davies KE, Mattei MG, Mattei JF, Veenema H, McGlade S, Harper K, Tommerup N, Nielsen KB, Mikkelsen M, Beighton P, Drayna D, White R, Pembrey ME (1985) Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome. Hum Genet 70: 249?255","journal-title":"Hum Genet"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1126\/science.4059909","volume":"230","author":"D Drayna","year":"1985","unstructured":"Drayna D, White R (1985) The genetic linkage map of the human X chromosome. Science 230:753?758","journal-title":"Science"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"2836","DOI":"10.1073\/pnas.81.9.2836","volume":"81","author":"D Drayna","year":"1984","unstructured":"Drayna D, Davies KE, Hartley DA, Williamson R, White R (1984) Genetic mapping of the human X chromosome using restriction fragment length polymorphisms. Proc Natl Acad Sci USA 81: 2836?2839","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR11","first-page":"430","volume":"58","author":"PJ Dyck","year":"1983","unstructured":"Dyck PJ, Ott J, Moore SB, Swanson CJ, Lambert EH (1983) Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy type I. Mayo Clin Proc 58: 430?435","journal-title":"Mayo Clin Proc"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3109\/01677068509100152","volume":"2","author":"CJ Forster-Gibson","year":"1985","unstructured":"Forster-Gibson CJ, Mulligan LM, Partington MW, Simpson NE, Holden JJA, White BN (1985) The genetic distance between the coagulation factor IX gene and the locus for the fragile-X syndrome: clinical implications. J Neurogenet 2:231?237","journal-title":"J Neurogenet"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/ajmg.1320230159","volume":"23","author":"CJ Forster-Gibson","year":"1986","unstructured":"Forster-Gibson CJ, Mulligan LM, Simpson NE, White BN, Holden JJA (1986) An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis. Am J Med Genet 23:665?683","journal-title":"Am J Med Genet"},{"key":"CR14","first-page":"674","volume":"139","author":"R Hagerman","year":"1985","unstructured":"Hagerman R, Kemper M, Hudson M (1985) Learning disabilities and attentional problems in boys with the fragile X syndrome. Am J Dis Child 139:674?678","journal-title":"Am J Dis Child"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1399-0004.1986.tb00811.x","volume":"29","author":"F Hecht","year":"1986","unstructured":"Hecht F, Fryns JP, Vlietinck RF, Van den Berghe H (1986) Genetic control over fragile X chromosome expression. Clin Genet 29: 191?195","journal-title":"Clin Genet"},{"key":"CR16","first-page":"1139","volume":"35","author":"SE Hodge","year":"1983","unstructured":"Hodge SE, Anderson CE, Neiswanger K, Sparks RS, Reimion DL (1983) The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two locus models, and genetic heterogeneity. Am J Hum Genet 35:1139?1155","journal-title":"Am J Hum Genet"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/ajmg.1320230155","volume":"23","author":"PA Jacobs","year":"1986","unstructured":"Jacobs PA, Sherman S, Turner G, Webb T (1986) The fragile (X) syndrome: the mutation problem. Am J Med Genet 23:611?617","journal-title":"Am J Med Genet"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/978-1-4684-5155-9_6","volume-title":"Genetic disorders and the fetus","author":"EC Jenkins","year":"1986","unstructured":"Jenkins EC, Brown WT (1986) The prenatal diagnosis of the fragile X syndrome. In: Milunsky A (ed) Genetic disorders and the fetus, 2nd edn. Plenum Press, New York, pp 185?199","edition":"2nd edn."},{"key":"CR19","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1016\/S0140-6736(81)91531-2","volume":"II","author":"EC Jenkins","year":"1981","unstructured":"Jenkins EC, Brown WT, Duncan CJ, Brooks J, Ben-Yishay M, Giordano FM, Nitowsky HM (1981) Feasibility of fragile X chromosome prenatal diagnosis demonstrated. Lancet II:1292","journal-title":"Lancet"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/ajmg.1320170114","volume":"17","author":"EC Jenkins","year":"1984","unstructured":"Jenkins EC, Brown WT, Brooks J, Duncan CJ, Rudelli RD, Wisniewski HM (1984) Experience with prenatal fragile X detection. Am J Med Genet 17:215?239","journal-title":"Am J Med Genet"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/ajmg.1320230123","volume":"23","author":"EC Jenkins","year":"1986","unstructured":"Jenkins EC, Brown WT, Wilson MG, Lin MS, Alfi OS, Wassman ER, Brooks J, Ducan CJ, Masia A, Krawczun MS (1986a) The prenatal detection of the fragile X chromosome: review of recent experience. Am J Med Genet 23:297?311","journal-title":"Am J Med Genet"},{"key":"CR22","first-page":"40","volume":"54","author":"EC Jenkins","year":"1986","unstructured":"Jenkins EC, Brown WT, Brooks J, Duncan CJ, Sanz MM, Silverman WT, Lele KP, Masia A, Katz E, Lubin RA, Nolin SL (1986b) Low frequencies of apparently fragile X chromosomes in normal control cultures: a possible explanation. Exp Cell Biol 54:40?48","journal-title":"Exp Cell Biol"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/BF00293026","volume":"69","author":"MS Krawczun","year":"1985","unstructured":"Krawczun MS, Jenkins EC, Brown WT (1985) Analysis of the fragile X chromosome: localization and detection of the fragile site in high resolution preparation. Hum Genet 69:209?211","journal-title":"Hum Genet"},{"key":"CR24","first-page":"201","volume":"28","author":"A Landoulsi","year":"1985","unstructured":"Landoulsi A, deBlois MC, Guerin P, Tethore MO, Lejeune J, Lucotte G (1985) Recombinaison entre le site fragile Xq27 et le gene du facteur IX de la coagulation Ann G\u00e9n\u00e9t (Paris) 28:201?205","journal-title":"Ann G\u00e9n\u00e9t (Paris)"},{"key":"CR25","first-page":"460","volume":"36","author":"GM Lathrop","year":"1984","unstructured":"Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460?465","journal-title":"Am J Hum Genet"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ajmg.1320230135","volume":"23","author":"DH Ledbetter","year":"1986","unstructured":"Ledbetter DH, Airhart SD, Nussbaum RL (1986) Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. Am J Med Genet 23:429?443","journal-title":"Am J Med Genet"},{"key":"CR27","first-page":"80","volume":"8","author":"NE Morton","year":"1956","unstructured":"Morton NE (1956) The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 8:80?96","journal-title":"Am J Hum Genet"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/ajmg.1320230162","volume":"23","author":"RL Nussbaum","year":"1986","unstructured":"Nussbaum RL, Airhart SD, Ledbetter DH (1986) Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: a hypothesis. Am J Med Genet 23:715?721","journal-title":"Am J Med Genet"},{"key":"CR29","doi-asserted-by":"crossref","first-page":"2824","DOI":"10.1073\/pnas.82.9.2824","volume":"82","author":"I Oberle","year":"1985","unstructured":"Oberle I, Drayna D, Camerino G, Kloepfer C, Mandel JL (1985) The telemeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA 82:2824?2828","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR30","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1073\/pnas.83.4.1016","volume":"83","author":"I Oberle","year":"1986","unstructured":"Oberle I, Heilig R, Moisan JP, Kliepfer C, Mattei MG, Mattei JF, Boue J, Froster-Iskenius U, Jacobs PA, Lathrop GM, Lalouel JM, Mandel JL (1986) Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers. Proc Natl Acad Sci USA 83:1016?1020","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.1320230102","volume":"23","author":"JM Opitz","year":"1986","unstructured":"Opitz JM (1986) Editorial comment: On the gates of hell and a most unusual gene. Am J Med Genet 23:1?10","journal-title":"Am J Med Genet"},{"key":"CR32","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/ajmg.1320170103","volume":"17","author":"JM Opitz","year":"1984","unstructured":"Opitz JM, Sutherland GR (1984) Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet 17:5?94","journal-title":"Am J Med Genet"},{"key":"CR33","volume-title":"Analysis of human genetic linkage","author":"J Ott","year":"1985","unstructured":"Ott J (1985) Analysis of human genetic linkage. The Johns Hopkins University Press, Baltimore"},{"key":"CR34","first-page":"723","volume":"4","author":"M Purello","year":"1985","unstructured":"Purello M, Aldaheff B, Esposito D, Szabo P, Rocchi M, Truett M, Maiarz F, Siniscalco M (1985) The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Yq27.3. EMBO J 4:723?729","journal-title":"EMBO J"},{"key":"CR35","first-page":"253","volume":"25","author":"BW Richards","year":"1981","unstructured":"Richards BW, Sylvester PE, Brooker C (1981) Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res 25: 253?256.12","journal-title":"J Ment Defic Res"},{"key":"CR36","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1111\/j.1469-1809.1982.tb00706.x","volume":"26","author":"N Risch","year":"1982","unstructured":"Risch N, Baron M (1982) X-linkage and genetic heterogeneity in bipolar-related major affective illness: reanalysis of linkage data. Ann Hum Genet 26:153?166","journal-title":"Ann Hum Genet"},{"key":"CR37","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0168-9525(86)90206-4","volume":"2","author":"JH Rogers","year":"1986","unstructured":"Rogers JH (1986) The mouse t complex is composed of two separate inversions. Trends Genet 2:145","journal-title":"Trends Genet"},{"key":"CR38","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1469-1809.1984.tb00830.x","volume":"48","author":"SL Sherman","year":"1984","unstructured":"Sherman SL, Morton NE, Jacobs PA, Turner G (1984) The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet 48:21?37","journal-title":"Ann Hum Genet"},{"key":"CR39","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/BF00291644","volume":"69","author":"SL Sherman","year":"1985","unstructured":"Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M (1985) Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:289?299","journal-title":"Hum Genet"},{"key":"CR40","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1399-0004.1983.tb01978.x","volume":"23","author":"W Silverman","year":"1983","unstructured":"Silverman W, Lubin R, Jenkins EC, Brown WT (1983) Quantifying the strength of association between fra (X) chromosome marker presence and mental retardation. Clin Genet 23:436?440","journal-title":"Clin Genet"},{"key":"CR41","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1469-1809.1963.tb00210.x","volume":"27","author":"CAB Smith","year":"1963","unstructured":"Smith CAB (1963) Testing for heterogeneity of recombination values in human genetics. Ann Hum Genet 27:175?182","journal-title":"Ann Hum Genet"},{"key":"CR42","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","volume":"98","author":"E Southern","year":"1975","unstructured":"Southern E (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503?517","journal-title":"J Mol Biol"},{"key":"CR43","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/S0140-6736(85)92227-5","volume":"I","author":"N Tommerup","year":"1985","unstructured":"Tommerup N, Sondergaard F, Tonnesen T, Kristensen M, Arveiler B, Schinzel A (1985) First trimester prenatal diagnosis of a male fetus with fragile X. Lancet I:870","journal-title":"Lancet"},{"key":"CR44","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ajmg.1320230103","volume":"23","author":"G Turner","year":"1986","unstructured":"Turner G, Opitz JM, Brown WT, Davies KE, Jacobs PA, Jenkins EC, Mikkelsen M, Partington MW, Sutherland GR (1986) Conference report: Second International Workshop on the Fragile X and on X-linked Mental Retardation. Am J Med Genet 23:11?67","journal-title":"Am J Med Genet"},{"key":"CR45","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/BF00295528","volume":"69","author":"ST Warren","year":"1985","unstructured":"Warren ST, Glover TW, Davidson RL, Jagadeeswaran P (1985) Linkage and recombination between fragile X-linked mental retardation and the factor IX gene. Hum Genet 69:44?46","journal-title":"Hum Genet"},{"key":"CR46","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/pd.1970030210","volume":"3","author":"T Webb","year":"1983","unstructured":"Webb T, Gorden CM, Rodeck CH, Hamill MA, Eason PE (1983) Prenatal diagnosis of X-linked mental retardation with fragile(X) using fetoscopy and fetal blood sampling. Prenat Diagn 3:131?137","journal-title":"Prenat Diagn"},{"key":"CR47","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1007\/BF00283366","volume":"71","author":"B Zoll","year":"1985","unstructured":"Zoll B, Arnemann J, Krawczak M, Cooper DN, Pescia G, Wahli W, Steinbach P, Schmidtke J (1985) Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX. Hum Genet 71:122?126","journal-title":"Hum Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00284100.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00284100\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00284100","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T17:04:07Z","timestamp":1554743047000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00284100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,4]]},"references-count":47,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1987,4]]}},"alternative-id":["BF00284100"],"URL":"https:\/\/doi.org\/10.1007\/bf00284100","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,4]]}}}