{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:18:56Z","timestamp":1786119536034,"version":"build-2736575974"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1097\/mcd.0b013e32833dc5ee","type":"journal-article","created":{"date-parts":[[2010,7,28]],"date-time":"2010-07-28T02:57:49Z","timestamp":1280285869000},"page":"195-197","source":"Crossref","is-referenced-by-count":7,"title":["A MID1 mutation associated with reduced penetrance of X-linked Opitz G\/BBB syndrome"],"prefix":"10.1097","volume":"19","author":[{"given":"Mariken","family":"Ruiter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germana","family":"Meroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B.A.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-5-20211004","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1093\/hmg\/8.8.1387","article-title":"Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle","volume":"8","author":"Cainarca","year":"1999","journal-title":"Hum Mol Genet"},{"key":"R2-5-20211004","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/ajmg.a.10265","article-title":"X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum","volume":"120A","author":"De Falco","year":"2003","journal-title":"Am J Med Genet"},{"key":"R3-5-20211004","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/humu.9480","article-title":"MID1 mutation screening in a large cohort of Opitz G\/BBB syndrome patients: twenty-nine novel mutations identified","volume":"28","author":"Ferrentino","year":"2007","journal-title":"Hum Mutat"},{"key":"R4-5-20211004","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/humu.20706","article-title":"MID1 mutations in patients with X-linked Opitz G\/BBB syndrome","volume":"29","author":"Fontanella","year":"2008","journal-title":"Hum Mutat"},{"key":"R5-5-20211004","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.ydbio.2004.09.036","article-title":"Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome","volume":"277","author":"Granata","year":"2005","journal-title":"Dev Biol"},{"key":"R6-5-20211004","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution","volume":"185","author":"Grantham","year":"1974","journal-title":"Science"},{"key":"R7-5-20211004","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1002\/ajmg.a.32368","article-title":"Clinical and molecular studies of patients with characteristics of Opitz G\/BBB syndrome shows a novel MID1 mutation","volume":"146A","author":"Hsieh","year":"2008","journal-title":"Am J Med Genet A"},{"key":"R8-5-20211004","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1002\/bies.20304","article-title":"TRIM\/RBCC, a novel class of \u2018single protein RING finger\u2019 E3 ubiquitin ligases","volume":"27","author":"Meroni","year":"2005","journal-title":"Bioessays"},{"key":"R9-5-20211004","first-page":"95","article-title":"The G syndrome of multiple congenital anomalies","volume":"2","author":"Opitz","year":"1969a","journal-title":"Birth Defects Orig Artic Ser"},{"key":"R10-5-20211004","first-page":"86","article-title":"The BBB syndrome familial telecanthus with associated congenital anomalies","volume":"2","author":"Opitz","year":"1969b","journal-title":"Birth Defects Orig Artic Ser"},{"key":"R11-5-20211004","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng1197-285","article-title":"Opitz G\/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22","volume":"17","author":"Quaderi","year":"1997","journal-title":"Nat Genet"},{"key":"R12-5-20211004","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1295-459","article-title":"Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2","volume":"11","author":"Robin","year":"1995","journal-title":"Nat Genet"},{"key":"R13-5-20211004","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.30407","article-title":"Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations","volume":"132","author":"So","year":"2005","journal-title":"Am J Med Genet A"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00019605-201010000-00005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:29:57Z","timestamp":1786040997000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00019605-201010000-00005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0b013e32833dc5ee","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]}}}