{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T18:16:16Z","timestamp":1769278576184,"version":"3.49.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T00:00:00Z","timestamp":1157068800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":3379,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2006,9]]},"DOI":"10.1038\/sj.jid.5700348","type":"journal-article","created":{"date-parts":[[2006,5,18]],"date-time":"2006-05-18T12:49:58Z","timestamp":1147956598000},"page":"2039-2043","source":"Crossref","is-referenced-by-count":33,"title":["Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities"],"prefix":"10.1016","volume":"126","author":[{"given":"Hiva","family":"Fassihi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liu","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vesarat","family":"Wessagowit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda C.","family":"Ozoemena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia J.C.","family":"Dopping-Hepenstal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley","family":"Foster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Atherton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jemima E.","family":"Mellerio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/sj.jid.5700348_bb0010","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/1523-1747.ep12336276","article-title":"Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein","volume":"109","author":"Christiano","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0015","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/geno.1994.1238","article-title":"Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa","volume":"21","author":"Christiano","year":"1994","journal-title":"Genomics"},{"key":"10.1038\/sj.jid.5700348_bb0020","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3","article-title":"Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa","volume":"10","author":"Christiano","year":"1997","journal-title":"Hum Mutat"},{"issue":"Suppl A","key":"10.1038\/sj.jid.5700348_bb0025","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1016\/j.placenta.2004.12.009","article-title":"Imprinted genes in the placenta \u2013 a review","volume":"26","author":"Coan","year":"2005","journal-title":"Placenta"},{"key":"10.1038\/sj.jid.5700348_bb0030","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320060207","article-title":"A new genetic concept: uniparental disomy and its potential effect, isodisomy","volume":"6","author":"Engel","year":"1980","journal-title":"Am J Med Genet"},{"key":"10.1038\/sj.jid.5700348_bb0035","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1365-2230.2004.01660.x","article-title":"Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa","volume":"30","author":"Fassihi","year":"2005","journal-title":"Clin Exp Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0040","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1067\/mjd.2000.106369","article-title":"Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa","volume":"42","author":"Fine","year":"2000","journal-title":"J Am Acad Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0045","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1046\/j.1525-1470.2003.20404.x","article-title":"Are children with recessive dystrophic epidermolysis bullosa of low birthweight?","volume":"20","author":"Fox","year":"2003","journal-title":"Pediatr Dermatol"},{"issue":"Suppl","key":"10.1038\/sj.jid.5700348_bb0050","first-page":"A1841","article-title":"A case of Fanconi Bickel syndrome caused by uniparental disomy of chromosome 3 with hyperinsulinism and hyperammonemia","volume":"75","author":"Hoffman","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700348_bb0055","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B","article-title":"Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)","volume":"10","author":"Jarvikallio","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1038\/sj.jid.5700348_bb0060","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1111\/j.1365-2133.1985.tb02400.x","article-title":"Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa","volume":"113","author":"Kennedy","year":"1985","journal-title":"Br J Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0065","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1136\/jmg.38.8.497","article-title":"Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements","volume":"38","author":"Kotzot","year":"2001","journal-title":"J Med Genet"},{"key":"10.1038\/sj.jid.5700348_bb0070","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/ajmg.a.30483","article-title":"Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated","volume":"136A","author":"Kotzot","year":"2005","journal-title":"Am J Med Genet"},{"key":"10.1038\/sj.jid.5700348_bb0075","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1111\/1523-1747.ep12560795","article-title":"Type VII collagen is a normal component of epidermal basement membrane which shows altered expression in recessive dystrophic epidermolysis bullosa","volume":"90","author":"Leigh","year":"1988","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0080","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1046\/j.1365-2230.2002.01130.x","article-title":"Epidermolysis bullosa and cancer","volume":"27","author":"Mallipeddi","year":"2002","journal-title":"Clin Exp Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0085","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000056752","article-title":"The role of imprinted genes in fetal growth","volume":"81","author":"Miozzo","year":"2002","journal-title":"Biol Neonate"},{"key":"10.1038\/sj.jid.5700348_bb0090","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.tig.2005.06.008","article-title":"A census of mammalian imprinting","volume":"21","author":"Morison","year":"2005","journal-title":"Trends Genet"},{"key":"10.1038\/sj.jid.5700348_bb0095","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1146\/annurev.genom.2.1.153","article-title":"Genome organization: function and imprinting in Prader\u2013Willi and Angelman syndromes","volume":"2","author":"Nicholls","year":"2001","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1038\/sj.jid.5700348_bb0100","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1086\/515524","article-title":"Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa","volume":"61","author":"Pulkkinen","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700348_bb0105","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K","article-title":"Mechanisms leading to uniparental disomy and their clinical consequences","volume":"22","author":"Robinson","year":"2000","journal-title":"Bioessays"},{"key":"10.1038\/sj.jid.5700348_bb0110","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejmg.2005.01.002","article-title":"CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3 (q21.3\u2013qter)","volume":"48","author":"Schollen","year":"2005","journal-title":"Eur J Med Genet"},{"key":"10.1038\/sj.jid.5700348_bb0115","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1111\/j.1525-1470.2005.00122.x","article-title":"Uniparental disomy","volume":"22","author":"Siegel","year":"2005","journal-title":"Pediatr Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0120","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1530\/rep.1.00395","article-title":"Genomic imprinting and reproduction","volume":"130","author":"Swales","year":"2005","journal-title":"Reproduction"},{"key":"10.1038\/sj.jid.5700348_bb0125","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1046\/j.1523-1747.2000.00052.x","article-title":"Complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa","volume":"115","author":"Takizawa","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0130","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1046\/j.1523-1747.1998.00186.x","article-title":"Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa","volume":"110","author":"Takizawa","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0135","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ajmg.c.30035","article-title":"Progress in epidermolysis bullosa: genetic classification and clinical implications","volume":"131C","author":"Uitto","year":"2004","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1038\/sj.jid.5700348_bb0140","first-page":"85","article-title":"Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa","volume":"64","author":"Verrando","year":"1991","journal-title":"Lab Invest"},{"key":"10.1038\/sj.jid.5700348_bb0145","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1046\/j.1523-1747.1999.00732.x","article-title":"Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis","volume":"113","author":"Whittock","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700348_bb0150","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s00439-004-1105-y","article-title":"Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles","volume":"114","author":"Zlotogora","year":"2004","journal-title":"Hum Genet"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15330591?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15330591?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,18]],"date-time":"2019-04-18T18:47:13Z","timestamp":1555613233000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15330591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["S0022202X15330591"],"URL":"https:\/\/doi.org\/10.1038\/sj.jid.5700348","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2006,9]]}}}