{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:32:50Z","timestamp":1791329570554,"version":"4.3.1"},"reference-count":17,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2000,9,1]],"date-time":"2000-09-01T00:00:00Z","timestamp":967766400000},"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":4704,"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":[[2000,9]]},"DOI":"10.1086\/303043","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:54Z","timestamp":1027709274000},"page":"574-581","source":"Crossref","is-referenced-by-count":105,"title":["Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes"],"prefix":"10.1016","volume":"67","author":[{"given":"Joseph G.","family":"Gleeson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Minnerath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruben I.","family":"Kuzniecky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian D.","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Elizabeth","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher A.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/303043_bib1","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1001\/archpedi.1993.02160360033012","article-title":"Miller-Dieker syndrome: detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring","volume":"147","author":"Alvarado","year":"1993","journal-title":"Am J Dis Child"},{"key":"10.1086\/303043_bib2","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1212\/WNL.50.4.1143","article-title":"X-linked female band heterotopia-male lissencephaly syndrome","volume":"50","author":"Berg","year":"1998","journal-title":"Neurology"},{"key":"10.1086\/303043_bib3","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/1531-8249(199902)45:2<141::AID-ANA1>3.0.CO;2-7","article-title":"Cortin disaster: lissencephaly genes spell double trouble for the developing brain","volume":"45","author":"Clark","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/303043_bib4","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/7.7.1063","article-title":"Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)","volume":"7","author":"des Portes","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/303043_bib5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0092-8674(00)80898-3","article-title":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome","volume":"92","author":"des Portes","year":"1998","journal-title":"Cell"},{"key":"10.1086\/303043_bib6","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0896-6273(00)80777-1","article-title":"Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons","volume":"23","author":"Francis","year":"1999","journal-title":"Neuron"},{"key":"10.1086\/303043_bib7","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(00)80899-5","article-title":"doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein","volume":"92","author":"Gleeson","year":"1998","journal-title":"Cell"},{"key":"10.1086\/303043_bib8","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0896-6273(00)80778-3","article-title":"Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons","volume":"23","author":"Gleeson","year":"1999","journal-title":"Neuron"},{"key":"10.1086\/303043_bib9","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N","article-title":"Genetic and neuroradiological heterogeneity of double cortex syndrome","volume":"47","author":"Gleeson","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1086\/303043_bib10","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1002\/1531-8249(199902)45:2<146::AID-ANA3>3.0.CO;2-N","article-title":"Characterization of mutations in the gene doublecortin in patients with double cortex syndrome","volume":"45","author":"Gleeson","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/303043_bib11","first-page":"501","article-title":"Familial Miller-Dieker syndrome and (15;17) chromosome translocation (in French)","volume":"44","author":"Goutieres","year":"1987","journal-title":"Arch Fr Pediatr"},{"key":"10.1086\/303043_bib12","first-page":"355","article-title":"Review and hypotheses: somatic mosaicism: observations related to clinical genetics","volume":"43","author":"Hall","year":"1988","journal-title":"Am J Hum Genet"},{"key":"10.1086\/303043_bib13","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/8.9.1757","article-title":"Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1","volume":"8","author":"Pilz","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/303043_bib14","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1136\/jnnp.57.8.914","article-title":"Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene","volume":"57","author":"Pinard","year":"1994","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/303043_bib15","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<369::AID-AJMG13>3.0.CO;2-L","article-title":"Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3","volume":"85","author":"Pollin","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/303043_bib16","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/301766","article-title":"Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling","volume":"62","author":"Sippel","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/303043_bib17","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s004390050708","article-title":"Germ line mosaicism","volume":"102","author":"Zlotogora","year":"1998","journal-title":"Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707632443?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707632443?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:25:51Z","timestamp":1555003551000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707632443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2000,9]]}},"alternative-id":["S0002929707632443"],"URL":"https:\/\/doi.org\/10.1086\/303043","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,9]]}}}