{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:27:56Z","timestamp":1790015276779,"version":"4.0.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,4,4]],"date-time":"2011-04-04T00:00:00Z","timestamp":1301875200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1186\/1471-2350-12-49","type":"journal-article","created":{"date-parts":[[2011,4,6]],"date-time":"2011-04-06T15:25:22Z","timestamp":1302103522000},"source":"Crossref","is-referenced-by-count":16,"title":["Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy"],"prefix":"10.1186","volume":"12","author":[{"given":"Gitte J","family":"Almind","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Milea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Larsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Br\u00f8ndum-Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Ek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,4,4]]},"reference":[{"key":"783_CR1","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1111\/j.1755-3768.2008.01469.x","volume":"88","author":"D Milea","year":"2010","unstructured":"Milea D, Sander B, Wegener M, Jensen H, Kjer B, Jorgensen TM, Lund-Andersen H, Larsen M: Axonal loss occurs early in dominant optic atrophy. Acta Ophthalmol. 2010, 88: 342-346. 10.1111\/j.1755-3768.2009.01738.x.","journal-title":"Acta Ophthalmol"},{"key":"783_CR2","first-page":"99","volume":"14","author":"JB Kerrison","year":"2001","unstructured":"Kerrison JB: Hereditary optic neuropathies. Ophthalmol Clin North Am. 2001, 14: 99-107.","journal-title":"Ophthalmol Clin North Am"},{"key":"783_CR3","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1136\/jmg.35.10.793","volume":"35","author":"M Votruba","year":"1998","unstructured":"Votruba M, Moore AT, Bhattacharya SS: Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet. 1998, 35: 793-800. 10.1136\/jmg.35.10.793.","journal-title":"J Med Genet"},{"key":"783_CR4","first-page":"1","volume":"164","author":"P Kjer","year":"1959","unstructured":"Kjer P: Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl. 1959, 164: 1-147.","journal-title":"Acta Ophthalmol Suppl"},{"key":"783_CR5","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1007\/s004390100600","volume":"109","author":"DL Thiselton","year":"2001","unstructured":"Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M: A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum Genet. 2001, 109: 498-502. 10.1007\/s004390100600.","journal-title":"Hum Genet"},{"key":"783_CR6","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1093\/hmg\/3.6.977","volume":"3","author":"H Eiberg","year":"1994","unstructured":"Eiberg H, Kjer B, Kjer P, Rosenberg T: Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994, 3: 977-980. 10.1093\/hmg\/3.6.977.","journal-title":"Hum Mol Genet"},{"key":"783_CR7","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","volume":"74","author":"B Kjer","year":"1996","unstructured":"Kjer B, Eiberg H, Kjer P, Rosenberg T: Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996, 74: 3-7. 10.1111\/j.1600-0420.1996.tb00672.x.","journal-title":"Acta Ophthalmol Scand"},{"key":"783_CR8","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1001\/archopht.117.6.805","volume":"117","author":"JB Kerrison","year":"1999","unstructured":"Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH: Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999, 117: 805-810.","journal-title":"Arch Ophthalmol"},{"key":"783_CR9","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1136\/jmg.2004.025502","volume":"42","author":"F Barbet","year":"2005","unstructured":"Barbet F, Hakiki S, Orssaud C, Gerber S, Perrault I, Hanein S, Ducroq D, Dufier JL, Munnich A, Kaplan J, et al: A third locus for dominant optic atrophy on chromosome 22q. J Med Genet. 2005, 42: e1-10.1136\/jmg.2004.025502.","journal-title":"J Med Genet"},{"key":"783_CR10","doi-asserted-by":"publisher","first-page":"e110","DOI":"10.1136\/jmg.2003.016576","volume":"41","author":"P Reynier","year":"2004","unstructured":"Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, et al: OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004, 41: e110-10.1136\/jmg.2003.016576.","journal-title":"J Med Genet"},{"key":"783_CR11","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/79944","volume":"26","author":"C Alexander","year":"2000","unstructured":"Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, et al: OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000, 26: 211-215. 10.1038\/79944.","journal-title":"Nat Genet"},{"key":"783_CR12","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/79936","volume":"26","author":"C Delettre","year":"2000","unstructured":"Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, et al: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000, 26: 207-210. 10.1038\/79936.","journal-title":"Nat Genet"},{"key":"783_CR13","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1002\/humu.20161","volume":"25","author":"M Ferre","year":"2005","unstructured":"Ferre M, Amati-Bonneau P, Tourmen Y, Malthiery Y, Reynier P: eOPA1: an online database for OPA1 mutations. Hum Mutat. 2005, 25: 423-428. 10.1002\/humu.20161.","journal-title":"Hum Mutat"},{"key":"783_CR14","first-page":"1715","volume":"43","author":"DL Thiselton","year":"2002","unstructured":"Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van RN, Munier FL, Moore AT, et al: A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2002, 43: 1715-1724.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"783_CR15","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1093\/hmg\/10.13.1369","volume":"10","author":"C Toomes","year":"2001","unstructured":"Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, et al: Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet. 2001, 10: 1369-1378. 10.1093\/hmg\/10.13.1369.","journal-title":"Hum Mol Genet"},{"key":"783_CR16","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","volume":"10","author":"UE Pesch","year":"2001","unstructured":"Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B: OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet. 2001, 10: 1359-1368. 10.1093\/hmg\/10.13.1359.","journal-title":"Hum Mol Genet"},{"key":"783_CR17","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1002\/humu.9152","volume":"21","author":"O Baris","year":"2003","unstructured":"Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, et al: Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat. 2003, 21: 656-10.1002\/humu.9152.","journal-title":"Hum Mutat"},{"key":"783_CR18","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1007\/s00439-001-0633-y","volume":"109","author":"C Delettre","year":"2001","unstructured":"Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP: Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet. 2001, 109: 584-591. 10.1007\/s00439-001-0633-y.","journal-title":"Hum Genet"},{"key":"783_CR19","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1007\/s10549-009-0613-9","volume":"122","author":"VJ del","year":"2010","unstructured":"del VJ, Feliubadalo L, Nadal M, Teule A, Miro R, Cuesta R, Tornero E, Menendez M, Darder E, Brunet J, et al: Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat. 2010, 122: 733-743. 10.1007\/s10549-009-0613-9.","journal-title":"Breast Cancer Res Treat"},{"key":"783_CR20","doi-asserted-by":"publisher","first-page":"2313","DOI":"10.1007\/s00125-007-0798-6","volume":"50","author":"S Ellard","year":"2007","unstructured":"Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, et al: Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia. 2007, 50: 2313-2317. 10.1007\/s00125-007-0798-6.","journal-title":"Diabetologia"},{"key":"783_CR21","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1111\/j.1399-0004.2007.00957.x","volume":"73","author":"V Paracchini","year":"2008","unstructured":"Paracchini V, Seia M, Coviello D, Porcaro L, Costantino L, Capasso P, Degiorgio D, Padoan R, Corbetta C, Claut L, et al: Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions. Clin Genet. 2008, 73: 346-352. 10.1111\/j.1399-0004.2007.00957.x.","journal-title":"Clin Genet"},{"key":"783_CR22","doi-asserted-by":"publisher","first-page":"e47","DOI":"10.1136\/jmg.39.8.e47","volume":"39","author":"NJ Marchbank","year":"2002","unstructured":"Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF: Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet. 2002, 39: e47-10.1136\/jmg.39.8.e47.","journal-title":"J Med Genet"},{"key":"783_CR23","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1136\/jmg.2008.062570","volume":"46","author":"N Fuhrmann","year":"2009","unstructured":"Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B: Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. J Med Genet. 2009, 46: 136-144. 10.1136\/jmg.2008.062570.","journal-title":"J Med Genet"},{"key":"783_CR24","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.cca.2009.01.008","volume":"402","author":"P Concolino","year":"2009","unstructured":"Concolino P, Mello E, Toscano V, Ameglio F, Zuppi C, Capoluongo E: Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions\/duplications in congenital adrenal hyperplasia: first technical report. Clin Chim Acta. 2009, 402: 164-170. 10.1016\/j.cca.2009.01.008.","journal-title":"Clin Chim Acta"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-12-49.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-12-49\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-12-49","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,7,9]],"date-time":"2016-07-09T21:07:13Z","timestamp":1468098433000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-12-49"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,4]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["783"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-12-49","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,4]]},"article-number":"49"}}