{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T15:17:07Z","timestamp":1774279027890,"version":"3.50.1"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2015,7,29]],"date-time":"2015-07-29T00:00:00Z","timestamp":1438128000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2015,7,29]],"date-time":"2015-07-29T00:00:00Z","timestamp":1438128000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministero Istruzione Universita\u2019 e Ricerca, the Italian Ministry of Health","award":["POR-FESR 2007-13-Tecnopolo"],"award-info":[{"award-number":["POR-FESR 2007-13-Tecnopolo"]}]},{"name":"Regione Emilia Romagna Programma di ricerca Regione-Universit\u00e0 2010-2012 Area 1 - Strategic Programmes","award":["E35E09000880002"],"award-info":[{"award-number":["E35E09000880002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Dermatol"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1111\/bjd.13858","type":"journal-article","created":{"date-parts":[[2015,4,24]],"date-time":"2015-04-24T16:27:12Z","timestamp":1429892832000},"page":"731-738","source":"Crossref","is-referenced-by-count":28,"title":["Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa"],"prefix":"10.1093","volume":"173","author":[{"given":"E.","family":"Tenedini","sequence":"first","affiliation":[{"name":"Centre for Genome Research; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Artuso","sequence":"additional","affiliation":[{"name":"Centre for Genome Research; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Bernardis","sequence":"additional","affiliation":[{"name":"Centre for Genome Research; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Artusi","sequence":"additional","affiliation":[{"name":"Centre for Genome Research; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Percesepe","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences for Children and Adults; Medical Genetics Unit; University Hospital of Modena; Largo del Pozzo 71 Modena 41126 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Centre for Regenerative Medicine \u2018Stefano Ferrari\u2019; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Contin","sequence":"additional","affiliation":[{"name":"Centre for Regenerative Medicine \u2018Stefano Ferrari\u2019; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Manfredini","sequence":"additional","affiliation":[{"name":"Centre for Regenerative Medicine \u2018Stefano Ferrari\u2019; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Pellacani","sequence":"additional","affiliation":[{"name":"Department of Surgical, Medical, Dental and Morphological Sciences with Interest in Transplants, Oncology and Regenerative Medicine; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Giannetti","sequence":"additional","affiliation":[{"name":"Emeritus of Dermatology; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Pagani","sequence":"additional","affiliation":[{"name":"Centre for Genome Research; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"De Luca","sequence":"additional","affiliation":[{"name":"Centre for Regenerative Medicine \u2018Stefano Ferrari\u2019; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0981-2542","authenticated-orcid":false,"given":"E.","family":"Tagliafico","sequence":"additional","affiliation":[{"name":"Centre for Genome Research; University of Modena and Reggio Emilia; Via Campi 287 Modena 41125 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2015,7,29]]},"reference":[{"key":"10.1111\/bjd.13858-BIB0001|bjd13858-cit-0001","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1111\/j.1365-2230.2004.01465.x","article-title":"Kindler syndrome","volume":"29","author":"Ashton","year":"2004","journal-title":"Clin Exp Dermatol"},{"key":"10.1111\/bjd.13858-BIB0002|bjd13858-cit-0002","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.jaad.2009.03.053","article-title":"Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs","volume":"61","author":"Fine","year":"2009","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/bjd.13858-BIB0003|bjd13858-cit-0003","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.jaad.2009.03.052","article-title":"Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues","volume":"61","author":"Fine","year":"2009","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/bjd.13858-BIB0004|bjd13858-cit-0004","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification","volume":"70","author":"Fine","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/bjd.13858-BIB0005|bjd13858-cit-0005","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-5-12","article-title":"Inherited epidermolysis bullosa","volume":"5","author":"Fine","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1111\/bjd.13858-BIB0006|bjd13858-cit-0006","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":"10.1111\/bjd.13858-BIB0007|bjd13858-cit-0007","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/bjd.13858-BIB0008|bjd13858-cit-0008","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/humu.21651","article-title":"The COL7A1 mutation database","volume":"33","author":"Wertheim-Tysarowska","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1111\/bjd.13858-BIB0009|bjd13858-cit-0009","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/humu.20652","article-title":"The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases","volume":"29","author":"Szeverenyi","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1111\/bjd.13858-BIB0010|bjd13858-cit-0010","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v. 2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1111\/bjd.13858-BIB0011|bjd13858-cit-0011","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"10.1111\/bjd.13858-BIB0012|bjd13858-cit-0012","doi-asserted-by":"crossref","first-page":"13534","DOI":"10.1093\/nar\/gku1206","article-title":"In silico prediction of splice-altering single nucleotide variants in the human genome","volume":"42","author":"Jian","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/bjd.13858-BIB0013|bjd13858-cit-0013","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1046\/j.1523-1747.2002.19606.x","article-title":"Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa","volume":"119","author":"Gardella","year":"2002","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.13858-BIB0014|bjd13858-cit-0014","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1006\/geno.1994.1627","article-title":"A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa","volume":"24","author":"Pulkkinen","year":"1994","journal-title":"Genomics"},{"key":"10.1111\/bjd.13858-BIB0015|bjd13858-cit-0015","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.jaad.2010.07.006","article-title":"Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature","volume":"65","author":"Yuen","year":"2011","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/bjd.13858-BIB0016|bjd13858-cit-0016","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1111\/j.0022-202X.2004.23302.x","article-title":"Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa","volume":"123","author":"Posteraro","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.13858-BIB0017|bjd13858-cit-0017","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1111\/j.1365-2133.2009.09333.x","article-title":"Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort","volume":"161","author":"Kern","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.13858-BIB0018|bjd13858-cit-0018","doi-asserted-by":"crossref","first-page":"467","DOI":"10.2217\/rme.13.33","article-title":"The long and winding road that leads to a cure for epidermolysis bullosa","volume":"8","author":"Carulli","year":"2013","journal-title":"Regen Med"},{"key":"10.1111\/bjd.13858-BIB0019|bjd13858-cit-0019","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/nm1504","article-title":"Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells","volume":"12","author":"Mavilio","year":"2006","journal-title":"Nat Med"},{"key":"10.1111\/bjd.13858-BIB0020|bjd13858-cit-0020","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1067\/mjd.2003.502","article-title":"Graftskin therapy in epidermolysis bullosa","volume":"48","author":"Fivenson","year":"2003","journal-title":"J Am Acad Dermatol"},{"key":"10.1111\/bjd.13858-BIB0021|bjd13858-cit-0021","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1111\/j.1365-2133.2009.09118.x","article-title":"Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy","volume":"161","author":"Gostynski","year":"2009","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.13858-BIB0022|bjd13858-cit-0022","doi-asserted-by":"crossref","first-page":"429","DOI":"10.3109\/14653241003587637","article-title":"Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa","volume":"12","author":"Conget","year":"2010","journal-title":"Cytotherapy"},{"key":"10.1111\/bjd.13858-BIB0023|bjd13858-cit-0023","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1038\/jid.2013.10","article-title":"Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa","volume":"133","author":"Woodley","year":"2013","journal-title":"J Invest Dermatol"},{"key":"10.1111\/bjd.13858-BIB0024|bjd13858-cit-0024","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1111\/exd.12276","article-title":"Impact of next generation sequencing on diagnostics in a genetic skin disease clinic","volume":"22","author":"Takeichi","year":"2013","journal-title":"Exp Dermatol"},{"key":"10.1111\/bjd.13858-BIB0025|bjd13858-cit-0025","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1111\/bjd.13473","article-title":"Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family","volume":"172","author":"Takeichi","year":"2015","journal-title":"Br J Dermatol"},{"key":"10.1111\/bjd.13858-BIB0026|bjd13858-cit-0026","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.ajhg.2009.08.015","article-title":"A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles","volume":"85","author":"Ayub","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1111\/bjd.13858-BIB0027|bjd13858-cit-0027","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1093\/hmg\/ddr064","article-title":"Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity","volume":"20","author":"Pigors","year":"2011","journal-title":"Hum Mol Genet"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.13858","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjd.13858","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/bjd.13858\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T09:15:19Z","timestamp":1676366119000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/173\/3\/731\/6627481"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,29]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"URL":"https:\/\/doi.org\/10.1111\/bjd.13858","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.725451279.793543186","asserted-by":"object"}]},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2015,7,29]]}}}