{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:54:11Z","timestamp":1761101651518},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,7,8]],"date-time":"2002-07-08T00:00:00Z","timestamp":1026086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed in three patients and showed porencephaly in all cases. In order to provide effective genetic counseling, three asymptomatic carriers were investigated by cerebral computerized tomography (three patients) and cerebral magnetic resonance imaging (one patient). These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10452","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T03:13:20Z","timestamp":1034133200000},"page":"198-202","source":"Crossref","is-referenced-by-count":18,"title":["Neuroimaging fails to identify asymptomatic carriers of familial porencephaly"],"prefix":"10.1002","volume":"112","author":[{"given":"C.","family":"Vilain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Van Regemorter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Van Bogaert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,7,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04375.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389501000517"},{"key":"e_1_2_4_4_1","first-page":"11","volume-title":"Dysplasias of cerebral cortex and epilepsy","author":"Andermann E","year":"1996"},{"key":"e_1_2_4_5_1","first-page":"423","article-title":"Formation, maturation, and disorders of brain neocortex","volume":"13","author":"Barkovich AJ","year":"1992","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1017\/S031716710002610X"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1983.04050080067013"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<428::AID-AJMG3>3.0.CO;2-N"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-94"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.78.2.F121"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199909093411104"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-73697-1"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5.1403"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.3.242"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90072-G"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199806183382502"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1991.tb14817.x"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200104193441607"},{"key":"e_1_2_4_19_1","first-page":"396","article-title":"Familial porencephaly","volume":"38","author":"Sensi A","year":"1990","journal-title":"Clin Genet"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(84)80010-8"},{"key":"e_1_2_4_21_1","first-page":"627","article-title":"Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism","volume":"84","author":"Souto JC","year":"1999","journal-title":"Haematologica"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420316"},{"key":"e_1_2_4_23_1","first-page":"67","article-title":"Cerebral palsy: MR findings in 40 patients","volume":"13","author":"Truwit CL","year":"1992","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588433"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.12.2229"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80240-2"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10452","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T04:50:12Z","timestamp":1697431812000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,8]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["10.1002\/ajmg.10452"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10452","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,8]]}}}