{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:54:35Z","timestamp":1780354475955,"version":"3.54.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2003,1,24]],"date-time":"2003-01-24T00:00:00Z","timestamp":1043366400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2003,3]]},"DOI":"10.1007\/s00439-002-0901-5","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T03:03:49Z","timestamp":1576119829000},"page":"249-254","source":"Crossref","is-referenced-by-count":20,"title":["Duplication of the MID1 first exon in a patient with Opitz G\/BBB syndrome"],"prefix":"10.1007","volume":"112","author":[{"given":"Jennifer","family":"Winter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Lehmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Suckow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia","family":"Kijas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kulozik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Kalscheuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Lenzner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Schweiger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,1,24]]},"reference":[{"key":"0901_CR1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1749-6632.1999.tb08585.x","volume":"883","author":"Anderson","year":"1999","unstructured":"Anderson TJ, Klugmann M, Thomson CE, Schneider A, Readhead C, Nave KA, Griffiths IR (1999) Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication. Ann N Y Acad Sci 883:234\u2013246","journal-title":"Ann N Y Acad Sci"},{"key":"0901_CR2","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1196-353","volume":"14","author":"Belloni","year":"1996","unstructured":"Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353\u2013356","journal-title":"Nat Genet"},{"key":"0901_CR3","doi-asserted-by":"publisher","first-page":"2553","DOI":"10.1093\/hmg\/9.17.2553","volume":"9","author":"Cox","year":"2000","unstructured":"Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK (2000) New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet 9:2553\u20132562","journal-title":"Hum Mol Genet"},{"key":"0901_CR4","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1086\/302010","volume":"63","author":"Gaudenz","year":"1998","unstructured":"Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M (1998) Opitz G\/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet 63:703\u2013710","journal-title":"Am J Hum Genet"},{"key":"0901_CR5","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0092-8674(00)80542-5","volume":"96","author":"Hentze","year":"1999","unstructured":"Hentze MW, Kulozik AE (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307\u2013310","journal-title":"Cell"},{"key":"0901_CR6","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","volume":"66","author":"Lupski","year":"1991","unstructured":"Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219\u2013232","journal-title":"Cell"},{"key":"0901_CR7","unstructured":"McKusick VA, Francomano C, Antonarakis SE (1995) Mendelian Inheritance in Man, 11th edn. John Hopkins University Press, Baltimore"},{"key":"0901_CR8","first-page":"899","volume":"55","author":"Pousi","year":"1994","unstructured":"Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllyla R (1994) Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet 55:899\u2013906","journal-title":"Am J Hum Genet"},{"key":"0901_CR9","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng1197-285","volume":"17","author":"Quaderi","year":"1997","unstructured":"Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A (1997) Opitz G\/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 17:285\u2013291","journal-title":"Nat Genet"},{"key":"0901_CR10","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1295-459","volume":"11","author":"Robin","year":"1995","unstructured":"Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, et al. (1995) Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 11:459\u2013461","journal-title":"Nat Genet"},{"key":"0901_CR11","doi-asserted-by":"publisher","first-page":"2794","DOI":"10.1073\/pnas.96.6.2794","volume":"96","author":"Schweiger","year":"1999","unstructured":"Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH (1999) The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci USA 96:2794\u20132799","journal-title":"Proc Natl Acad Sci USA"},{"key":"0901_CR12","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/ng762","volume":"29","author":"Trockenbacher","year":"2001","unstructured":"Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S (2001) MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet 29:287\u2013294","journal-title":"Nat Genet"},{"key":"0901_CR13","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1006\/geno.1998.5350","volume":"51","author":"Van","year":"1998","unstructured":"Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY (1998) Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics 51:251\u2013261","journal-title":"Genomics"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-002-0901-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-002-0901-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-002-0901-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T03:03:52Z","timestamp":1576119832000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-002-0901-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,24]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,3]]}},"alternative-id":["0901"],"URL":"https:\/\/doi.org\/10.1007\/s00439-002-0901-5","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,24]]}}}