{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:09:18Z","timestamp":1762542558601,"version":"build-2065373602"},"reference-count":8,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","award":["2012-0529"],"award-info":[{"award-number":["2012-0529"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007376","name":"Associazione Italiana di Oncologia Medica","doi-asserted-by":"publisher","award":["AISS-2011"],"award-info":[{"award-number":["AISS-2011"]}],"id":[{"id":"10.13039\/100007376","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.bcmd.2016.06.007","type":"journal-article","created":{"date-parts":[[2016,6,26]],"date-time":"2016-06-26T23:19:22Z","timestamp":1466983162000},"page":"33-35","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients"],"prefix":"10.1016","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0066-5195","authenticated-orcid":false,"given":"Antonella","family":"Minelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Nacci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Valli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampiero","family":"Pietrocola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ugo","family":"Ramenghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Locatelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia","family":"Brescia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Nicolis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bcmd.2016.06.007_bb0005","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/j.1749-6632.2011.06349.x","article-title":"Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome","volume":"1242","author":"Dror","year":"2011","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"1","key":"10.1016\/j.bcmd.2016.06.007_bb0010","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bcmd.2016.06.007_bb0015","series-title":"GeneReviews\u00ae [Internet]","article-title":"Shwachman-Diamond syndrome","author":"Myers","year":"2008"},{"issue":"1","key":"10.1016\/j.bcmd.2016.06.007_bb0020","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.bcmd.2016.06.007_bb0025","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.bcmd.2007.02.002","article-title":"Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome","volume":"39","author":"Costa","year":"2007","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2016.06.007_bb0030","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/1471-2350-15-64","article-title":"Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome","volume":"15","author":"Carvalho","year":"2014","journal-title":"BMC Med. Genet."},{"issue":"1","key":"10.1016\/j.bcmd.2016.06.007_bb0035","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1182\/blood-2004-11-4371","article-title":"Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship","volume":"106","author":"Kuijpers","year":"2005","journal-title":"Blood"},{"issue":"9","key":"10.1016\/j.bcmd.2016.06.007_bb0040","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3324\/haematol.2011.057489","article-title":"Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome","volume":"97","author":"Donadieu","year":"2012","journal-title":"Haematologica"}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979616300791?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979616300791?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:32:15Z","timestamp":1761049935000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979616300791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":8,"alternative-id":["S1079979616300791"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2016.06.007","relation":{},"ISSN":["1079-9796"],"issn-type":[{"type":"print","value":"1079-9796"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2016.06.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}