{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:47:40Z","timestamp":1791161260454,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,4]],"date-time":"2002-01-04T00:00:00Z","timestamp":1010102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH and the Division of Intramural Research","award":["HD01218"],"award-info":[{"award-number":["HD01218"]}]},{"name":"NIH and the Division of Intramural Research","award":["HD29862"],"award-info":[{"award-number":["HD29862"]}]},{"name":"CNPq, Brazil","award":["200728\/98-9"],"award-info":[{"award-number":["200728\/98-9"]}]},{"name":"FAPERJ, Brazil","award":["E-26\/170.688\/97"],"award-info":[{"award-number":["E-26\/170.688\/97"]}]},{"name":"FAPERJ, Brazil","award":["E-26\/170.442\/99"],"award-info":[{"award-number":["E-26\/170.442\/99"]}]},{"name":"FUJB, Brazil","award":["8222-8"],"award-info":[{"award-number":["8222-8"]}]},{"name":"CAPES, Brazil"},{"name":"PAPES, Fiocruz, Brazil"},{"name":"ANPICT, Argentina","award":["PICT 4495"],"award-info":[{"award-number":["PICT 4495"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oral clefts generally have a multifactorial etiology. A number of genes contribute to the formation of the face and palate. Cleft lip and\/or palate can occur in pedigrees with autosomal dominant holoprosencephaly due to mutations in <jats:italic>Sonic Hedgehog<\/jats:italic> (<jats:italic>SHH<\/jats:italic>). In addition, animal models have shown that <jats:italic>SHH<\/jats:italic> is involved in face development. We thus examined the human <jats:italic>SHH<\/jats:italic> gene in 220 newborn infants with nonsyndromic oral clefts registered by the Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC (Latin American Collaborative Study of Congenital Malformations). We found 15 variant bands in 13 patients with oral clefts, representing five different base changes, all of which were found by sequencing to represent silent polymorphisms. Four occurred in introns. The alteration occurring in an exon, Ser190Ser, may create a consensus sequence for the 3\u2032splice site 6 bp downstream of the original consensus sequence. Thus, we did not identify any clearly disease\u2010causing mutation in <jats:italic>SHH<\/jats:italic> in these patients, and conclude that <jats:italic>SHH<\/jats:italic> mutations are not a frequent cause of isolated oral clefts in humans. Published 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10204","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T04:51:41Z","timestamp":1030251101000},"page":"12-15","source":"Crossref","is-referenced-by-count":26,"title":["Mutational analysis of the <i>Sonic Hedgehog<\/i> gene in 220 newborns with oral clefts in a South American (ECLAMC) population\u2020"],"prefix":"10.1002","volume":"108","author":[{"given":"I\u00eada M.","family":"Orioli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre R.","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo E.","family":"Castilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey E.","family":"Ming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Muenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,1,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-75599-6_6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1242\/dev.126.2.281","article-title":"Regionalization of Sonic Hedgehog transcription along the anteroposterior axis of the mouse central nervous system is regulated by Hnf3\u2010dependent and \u2010independent mechanisms","volume":"126","author":"Epstein DJ","year":"1999","journal-title":"Development"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.21.4873"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/301956"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2272(1996)13:5<469::AID-GEPI3>3.0.CO;2-Y"},{"key":"e_1_2_6_8_1","first-page":"6203","volume-title":"Metabolic and molecular bases of inherited disease","author":"Muenke M","year":"2001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.17.8102"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<315::AID-AJMG10>3.0.CO;2-Y"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1683"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100537"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(96)80053-0"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1847"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1853"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/74155"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050709"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T08:18:24Z","timestamp":1700295504000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1,16]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,2,15]]}},"alternative-id":["10.1002\/ajmg.10204"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10204","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1,16]]}}}