{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:46:19Z","timestamp":1764171979491,"version":"3.40.3"},"reference-count":15,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T00:00:00Z","timestamp":1288569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T00:00:00Z","timestamp":1288569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":1857,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1038\/jid.2010.182","type":"journal-article","created":{"date-parts":[[2010,7,2]],"date-time":"2010-07-02T10:08:27Z","timestamp":1278065307000},"page":"2671-2674","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Complete Paternal Isodisomy of Chromosome 17 in Junctional Epidermolysis Bullosa with Pyloric Atresia"],"prefix":"10.1016","volume":"130","author":[{"given":"Ken","family":"Natsuga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Nishie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Arita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Shinkuma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shogo","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumihisa","family":"Imakado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/jid.2010.182_bb0010","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.jdermsci.2008.02.006","article-title":"Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa","volume":"51","author":"Castori","year":"2008","journal-title":"J Dermatol Sci"},{"key":"10.1038\/jid.2010.182_bb0015","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1038\/sj.jid.5700348","article-title":"Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities","volume":"126","author":"Fassihi","year":"2006","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.182_bb0020","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\/jid.2010.182_bb0025","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.jaad.2008.02.004","article-title":"The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB","volume":"58","author":"Fine","year":"2008","journal-title":"J Am Acad Dermatol"},{"key":"10.1038\/jid.2010.182_bb0030","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/sj.ejhg.5200333","article-title":"Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies","volume":"7","author":"Genuardi","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1038\/jid.2010.182_bb0035","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1038\/jid.2010.19","article-title":"A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex","volume":"130","author":"Groves","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2010.182_bb0040","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1034\/j.1600-0625.2003.00052.x","article-title":"Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia","volume":"12","author":"Iacovacci","year":"2003","journal-title":"Exp Dermatol"},{"key":"10.1038\/jid.2010.182_bb0045","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":"136","author":"Kotzot","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1038\/jid.2010.182_bb0050","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1038\/ejhg.2009.13","article-title":"Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis","volume":"17","author":"Lebre","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1038\/jid.2010.182_bb0055","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S1525-1578(10)60005-0","article-title":"Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)","volume":"7","author":"Nakamura","year":"2005","journal-title":"J Mol Diagn"},{"key":"10.1038\/jid.2010.182_bb0060","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\/jid.2010.182_bb0065","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s004390100522","article-title":"Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation","volume":"108","author":"Rio","year":"2001","journal-title":"Hum Genet"},{"key":"10.1038\/jid.2010.182_bb0070","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1046\/j.1523-1747.2000.00052.x","article-title":"Mutation report: 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\/jid.2010.182_bb0075","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\/jid.2010.182_bb0080","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2005.039685","article-title":"Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants","volume":"43","author":"Varki","year":"2006","journal-title":"J Med Genet"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15346145?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15346145?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T11:41:46Z","timestamp":1743939706000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15346145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["S0022202X15346145"],"URL":"https:\/\/doi.org\/10.1038\/jid.2010.182","relation":{},"ISSN":["0022-202X"],"issn-type":[{"type":"print","value":"0022-202X"}],"subject":[],"published":{"date-parts":[[2010,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Complete Paternal Isodisomy of Chromosome 17 in Junctional Epidermolysis Bullosa with Pyloric Atresia","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2010.182","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 The Society for Investigative Dermatology, Inc. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}