{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:08:05Z","timestamp":1762542485668},"reference-count":10,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Rabin Medical Center"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1016\/j.ymgme.2015.11.011","type":"journal-article","created":{"date-parts":[[2015,11,25]],"date-time":"2015-11-25T20:46:16Z","timestamp":1448484376000},"page":"38-41","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin"],"prefix":"10.1016","volume":"117","author":[{"given":"Eyal","family":"Reinstein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pola","family":"Smirin-Yosef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Lagovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bella","family":"Davidov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Peretz Amit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doron","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avi","family":"Orr-Urtreger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shay","family":"Ben-Shachar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Basel-Vanagaite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2015.11.011_bb0005","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1002\/ajmg.a.37157","article-title":"ADAMTSL4-associated isolated ectopia lentis: further patients, novel mutations and a detailed phenotype description","volume":"167","author":"Neuhann","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2015.11.011_bb0010","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/cge.12358","article-title":"The revised Ghent nosology; reclassifying isolated ectopia lentis","volume":"87","author":"Chandra","year":"2015","journal-title":"Clin. Genet."},{"issue":"2009","key":"10.1016\/j.ymgme.2015.11.011_bb0015","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.ajhg.2009.01.007","article-title":"A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis","volume":"84","author":"Ahram","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0020","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3109\/13816810903567604","article-title":"Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis","volume":"31","author":"Greene","year":"2010","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0025","doi-asserted-by":"crossref","first-page":"E1622","DOI":"10.1002\/humu.21305","article-title":"Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients","volume":"31","author":"Aragon-Martin","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0030","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddv399","article-title":"Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and retinal pigment epithelium dedifferentiation","author":"Collin","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0035","doi-asserted-by":"crossref","DOI":"10.1016\/j.matbio.2015.05.004","article-title":"ADAMTS proteins as modulators of microfibril formation and function","author":"Hubmacher","year":"2015","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0040","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1146\/annurev.genom.030308.111406","article-title":"Genetic testing in Israel: an overview","volume":"10","author":"Rosner","year":"2009","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0045","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.ymgme.2012.08.011","article-title":"A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews","volume":"107","author":"Ben-Shachar","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2015.11.011_bb0050","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/GIM.0b013e3181edef5b","article-title":"Genetic screening in the Persian Jewish community: a pilot study","volume":"12","author":"Kaback","year":"2010","journal-title":"Genet. Med."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719215300810?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719215300810?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T08:27:22Z","timestamp":1537172842000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719215300810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["S1096719215300810"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2015.11.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2015.11.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}