{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T17:20:39Z","timestamp":1790356839815,"version":"4.1.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2000,2,1]],"date-time":"2000-02-01T00:00:00Z","timestamp":949363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4917,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,2]]},"DOI":"10.1086\/302758","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"733-739","source":"Crossref","is-referenced-by-count":68,"title":["Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel"],"prefix":"10.1016","volume":"66","author":[{"given":"Meral","family":"Top\u00e7u","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corine","family":"Gartioux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Ribierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cengiz","family":"Yal\u00e7inkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erem","family":"Tokus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nese","family":"\u00d6ztekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques S.","family":"Beckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Ozguc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Seboun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302758_bib1","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/0092-8674(89)90097-4","article-title":"Fibulin, a novel protein that interacts with the fibronectin receptor beta subunit cytoplasmic domain","volume":"58","author":"Argraves","year":"1989","journal-title":"Cell"},{"key":"10.1086\/302758_bib2","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/302758_bib3","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/990031","article-title":"The DNA sequence of human chromosome 22","volume":"402","author":"Dunham","year":"1999","journal-title":"Nature"},{"key":"10.1086\/302758_bib4","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1177\/088307389601100604","article-title":"Leukoencephalopathy, megalencephaly, and mild clinical course: a recently individualized familial leukodystrophy: report on five new cases","volume":"11","author":"Goutieres","year":"1996","journal-title":"J Child Neurol"},{"key":"10.1086\/302758_bib5","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302758_bib6","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1126\/science.2884728","article-title":"Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children","volume":"236","author":"Lander","year":"1987","journal-title":"Science"},{"key":"10.1086\/302758_bib7","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S0887-8994(97)00044-1","article-title":"Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging\/magnetic resonance spectroscopy findings","volume":"16","author":"Mejaski-Bosnjak","year":"1997","journal-title":"Pediatr Neurol"},{"key":"10.1086\/302758_bib21","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1042\/bj3000271","article-title":"Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism","volume":"300","author":"Pemble","year":"1994","journal-title":"Biochem J"},{"key":"10.1086\/302758_bib8","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1159\/000154358","article-title":"Faster linkage analysis computations for pedigrees with loops or unused alleles","volume":"46","author":"Schaffer","year":"1996","journal-title":"Hum Hered"},{"key":"10.1086\/302758_bib9","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0887-8994(96)00048-3","article-title":"Megalencephalic leukodystrophy in an Asian Indian ethnic group","volume":"14","author":"Singhal","year":"1996","journal-title":"Pediatr Neurol"},{"key":"10.1086\/302758_bib22","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/0888-7543(95)80037-M","article-title":"Molecular cloning of a cDNA and chromosomal localization of a human theta-class glutathione S-transferase gene (GSTT2) to chromosome 22","volume":"25","author":"Tan","year":"1995","journal-title":"Genomics"},{"key":"10.1086\/302758_bib10","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0387-7604(98)00002-3","article-title":"Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases","volume":"20","author":"Top\u00e7u","year":"1998","journal-title":"Brain Dev"},{"key":"10.1086\/302758_bib11","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/ana.410370308","article-title":"Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children","volume":"37","author":"van der Knaap","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1086\/302758_bib13","series-title":"Methods in molecular genetics: gene and chromosome analysis","first-page":"211","article-title":"Non-radioactive multiplex procedure for genotyping of microsatellite markers","author":"Vignal","year":"1993"},{"key":"10.1086\/302758_bib14","first-page":"A204","article-title":"SLINK: a general simulation program for linkage analysis","volume":"47","author":"Weeks","year":"1990","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302758_bib15","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1038\/359794a0","article-title":"A second-generation linkage map of the human genome","volume":"359","author":"Weissenbach","year":"1992","journal-title":"Nature"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970763448X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970763448X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:21:18Z","timestamp":1555003278000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970763448X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,2]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2000,2]]}},"alternative-id":["S000292970763448X"],"URL":"https:\/\/doi.org\/10.1086\/302758","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,2]]}}}