{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T23:19:28Z","timestamp":1769728768647,"version":"3.49.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1997,9,1]],"date-time":"1997-09-01T00:00:00Z","timestamp":873072000000},"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":[[1997,9]]},"DOI":"10.1038\/ng0997-92","type":"journal-article","created":{"date-parts":[[2004,8,19]],"date-time":"2004-08-19T16:27:51Z","timestamp":1092932871000},"page":"92-95","source":"Crossref","is-referenced-by-count":112,"title":["Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing"],"prefix":"10.1038","volume":"17","author":[{"given":"Stephen G.","family":"Ryan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip F.","family":"Chance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Hua","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey A.","family":"Golden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Smietana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFng099792_CR1","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","volume":"86","author":"RW Goltz","year":"1962","unstructured":"Goltz, R.W., Peterson, W.C., Gorlin, R.J. & Ravits, H.G. Focal dermal hypoplasia. Arch. Dermatol. 86, 708\u2013717 (1962).","journal-title":"Arch. Dermatol."},{"key":"BFng099792_CR2","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1136\/jmg.27.3.180","volume":"27","author":"IK Temple","year":"1990","unstructured":"Temple, I.K., MacDowall, P., Baraitser, M. & Atherton, D.J. Focal dermal hypoplasia (Goltz syndrome). J. Med. Genet. 27, 180\u2013187 (1990).","journal-title":"J. Med. Genet."},{"key":"BFng099792_CR3","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1016\/0030-4220(75)90370-9","volume":"40","author":"M Melnick","year":"1975","unstructured":"Melnick, M. & Shields, E.D. Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. Oral Surg. Oral Med. Oral Pathol. 40, 599\u2013610 (1975).","journal-title":"Oral Surg. Oral Med. Oral Pathol."},{"key":"BFng099792_CR4","first-page":"117","volume":"7","author":"YZ Eksioglu","year":"1992","unstructured":"Eksioglu, Y.Z. et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 7, 117\u2013119 (1992).","journal-title":"Neuron"},{"key":"BFng099792_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF00289472","volume":"64","author":"R Wettke-Schafer","year":"1983","unstructured":"Wettke-Schafer, R. & Kantner, G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum. Genet. 64, 1\u201323 (1983).","journal-title":"Hum. Genet."},{"key":"BFng099792_CR6","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/ana.410140412","volume":"14","author":"B Hagberg","year":"1983","unstructured":"Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome; report of 35 cases. Ann. Neurol. 14, 471\u2013479 (1983).","journal-title":"Ann. Neurol."},{"key":"BFng099792_CR7","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1002\/ajmg.1320320405","volume":"32","author":"AE Donnenfeld","year":"1989","unstructured":"Donnenfeld, A.E. et al. Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am. J. Med. Genet. 32, 461\u2013467 (1989).","journal-title":"Am. J. Med. Genet."},{"key":"BFng099792_CR8","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/ajmg.1320490214","volume":"49","author":"EA Lindsay","year":"1994","unstructured":"Lindsay, E.A. et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am. J. Med. Genet. 49, 229\u2013234 (1994).","journal-title":"Am. J. Med. Genet."},{"key":"BFng099792_CR9","volume-title":"Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders","author":"VA McKusick","year":"1994","unstructured":"McKusick, V.A., Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders (Johns Hopkins University Press, Baltimore, 1994)."},{"key":"BFng099792_CR10","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1016\/S0022-3476(71)80382-7","volume":"79","author":"RC Juberg","year":"1971","unstructured":"Juberg, R.C. & Hellman, C.D. A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 79, 726\u2013732 (1971).","journal-title":"J. Pediatr."},{"key":"BFng099792_CR11","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1111\/j.1399-0004.1990.tb03594.x","volume":"38","author":"K Fabisiak","year":"1990","unstructured":"Fabisiak, K. & Erickson, R.P. A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin. Genet. 38, 353\u2013358 (1990).","journal-title":"Clin. Genet."},{"key":"BFng099792_CR12","doi-asserted-by":"publisher","first-page":"1945","DOI":"10.1126\/science.270.5244.1945","volume":"270","author":"TJ Hudson","year":"1995","unstructured":"Hudson, T.J. et al. An STS-based map of the human genome. Science 270, 1945\u20131954 (1995).","journal-title":"Science"},{"key":"BFng099792_CR13","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/380152a0","volume":"380","author":"C Dib","year":"1996","unstructured":"Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152\u2013154 (1996).","journal-title":"Nature"},{"key":"BFng099792_CR14","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1126\/science.8091227","volume":"265","author":"JC Murray","year":"1994","unstructured":"Murray, J.C. et al. and the Cooperative Human Linkage Center (CHLC). A comprehensive human linkage map with centimorgan density. Science 265, 2049\u20132054 (1994).","journal-title":"Science"},{"key":"BFng099792_CR15","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1126\/science.1675488","volume":"252","author":"EJ Kremer","year":"1991","unstructured":"Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711\u20131714 (1991).","journal-title":"Science"},{"key":"BFng099792_CR16","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1038\/349038a0","volume":"349","author":"CJ Brown","year":"1991","unstructured":"Brown, C.J. et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349, 38\u201344 (1991).","journal-title":"Nature"},{"key":"BFng099792_CR17","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1038\/379131a0","volume":"379","author":"GD Penny","year":"1996","unstructured":"Penny, G.D., Kay, G.F., Sheardown, S.A., Rastan, S. & Brockdorff, N. Requirement for Xist in X chromosome inactivation. Nature 379, 131\u2013137 (1996).","journal-title":"Nature"},{"key":"BFng099792_CR18","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. & Belmont, J.W. Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51, 1229\u20131239 (1992).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng099792_CR19","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1007\/BF01957936","volume":"151","author":"L Kapusta","year":"1992","unstructured":"Kapusta, L., Brunner, H.G. & Hamel, B.C. Craniofrontonasal dysplasia. Eur. J. Pediatr. 151, 837\u2013841 (1992).","journal-title":"Eur. J. Pediatr."},{"key":"BFng099792_CR20","first-page":"383","volume":"4","author":"JC Vaillaud","year":"1968","unstructured":"Vaillaud, J.C., Martin, J., Szepetowski, G. & Robert, J.M. Le syndrome oro-facio-digital: \u00e9tude clinique et g\u00e9n\u00e9tique \u00e0 propos de 10 cas observ\u00e9s dans une m\u00eame famille. Rev. Pediatr. 4, 383\u2013392 (1968).","journal-title":"Rev. Pediatr."},{"key":"BFng099792_CR21","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1038\/311119a0","volume":"311","author":"DC Page","year":"1984","unstructured":"Page, D.C., Harper, M.E., Love, J. & Botstein, D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311, 119\u2013123 (1984).","journal-title":"Nature"},{"key":"BFng099792_CR22","unstructured":"Mumm, S., Molini, B., Terrell, J., Srivastava, A. & Schlessinger, D. Evolutionary features of the 4 Mb Xq21. 3 XV homology region revealed by a map at 60 kb resolution. Genome Res. (in the press)."},{"key":"BFng099792_CR23","first-page":"374","volume":"32","author":"WF Johnson","year":"1980","unstructured":"Johnson, W.F. Metabolic interference and the +\/\u2212 heterpzygote: a hypothetical form of simple inheritance which is neither dominant nor recessive. Am. J. Hum. Genet. 32, 374\u2013386 (1980).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng099792_CR24","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1093\/hmg\/4.4.731","volume":"4","author":"AP Miller","year":"1995","unstructured":"Miller, A.P. et al. Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21\u2013p11.22. Hum. Mot. Genet. 4, 731\u2013739 (1995).","journal-title":"Hum. Mot. Genet."},{"key":"BFng099792_CR25","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1006\/geno.1995.1022","volume":"27","author":"MM Jani","year":"1995","unstructured":"Jani, M.M., Torchia, B.S., Pai, G.S. & Migeon, B.R. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of Cis X inactivation. Genomics 27, 182\u2013188 (1995).","journal-title":"Genomics"},{"key":"BFng099792_CR26","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1002\/ana.410310615","volume":"31","author":"SG Ryan","year":"1992","unstructured":"Ryan, S.G. et al. Startle disease, or hyperexplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann. Neurol. 31, 663\u2013668 (1992).","journal-title":"Ann. Neurol."},{"key":"BFng099792_CR27","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 be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44, 388\u2013396 (1989).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng099792_CR28","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":"BFng099792_CR29","volume-title":"Antibodies: A Laboratory Manual","author":"E Harlow","year":"1988","unstructured":"Harlow, E. & Lane, D. Antibodies: A Laboratory Manual (Cold Spring Harbor, Cold Spring Harbor, NY, 1988)."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0997-92","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0997-92.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0997-92.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:59:37Z","timestamp":1684443577000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0997-92"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,9]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1997,9]]}},"alternative-id":["BFng099792"],"URL":"https:\/\/doi.org\/10.1038\/ng0997-92","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,9]]}}}