{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:48:45Z","timestamp":1780354125810,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3721,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A family of 5 affected male infants in 2 generations with an X\u2010linked pattern of inheritance is described. All affected infants manifested intractable seizures, severe psychomotor retardation, growth failure, microphallus, and death during infancy. Three of the affected patients had radiological studies that demonstrated findings consistent with pachygyria\u2010agyria and agenesis of the corpus callosum. We believe that this family represents a form of X\u2010linked pachygyria\u2010agyria (lissencephaly) that has not been described previously and suggests a locus for lissencephaly on the X chromosome.<\/jats:p>","DOI":"10.1002\/ana.410360216","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:06:26Z","timestamp":1104595586000},"page":"229-233","source":"Crossref","is-referenced-by-count":52,"title":["X\u2010linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus"],"prefix":"10.1002","volume":"36","author":[{"given":"Elizabeth","family":"Berry\u2010Kravis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanette","family":"Israel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.7.1375"},{"key":"e_1_2_1_3_2","first-page":"182","article-title":"Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly","volume":"50","author":"Ledbetter SA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_2","first-page":"584","article-title":"Clinical and molecular diagnosis of Miller\u2010Dieker syndrome","volume":"48","author":"Dobyns WB","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_2","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller\u2010Dieker syndrome by in situ hybridization","volume":"49","author":"Kuwano A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00696881"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600203"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00686900"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1964.00460200094009"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.122"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050513"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439020"},{"key":"e_1_2_1_13_2","first-page":"19","article-title":"Isolation of a gene for Miller\u2010Dieker lissencephaly, a human migration disorder","volume":"53","author":"Reiner O","year":"1993","journal-title":"Am J Hum Genet Suppl"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.1.51"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.10.1656"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90007-U"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90012-W"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410360216","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410360216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T13:39:05Z","timestamp":1698154745000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410360216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,8]]}},"alternative-id":["10.1002\/ana.410360216"],"URL":"https:\/\/doi.org\/10.1002\/ana.410360216","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8]]}}}