{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T22:32:56Z","timestamp":1771540376316,"version":"3.50.1"},"reference-count":36,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,10,1]],"date-time":"2005-10-01T00:00:00Z","timestamp":1128124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,10,1]],"date-time":"2005-10-01T00:00:00Z","timestamp":1128124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaapos.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of American Association for Pediatric Ophthalmology and Strabismus"],"published-print":{"date-parts":[[2005,10]]},"DOI":"10.1016\/j.jaapos.2005.05.010","type":"journal-article","created":{"date-parts":[[2005,10,18]],"date-time":"2005-10-18T17:12:52Z","timestamp":1129655572000},"page":"407-415","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Ophthalmologic Findings in the Cornelia de Lange Syndrome"],"prefix":"10.1016","volume":"9","author":[{"given":"Tamara","family":"Wygnanski-Jaffe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enza","family":"Perruzza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Abdolell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laird G.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex V.","family":"Levin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaapos.2005.05.010_bib1","series-title":"The de Lange syndrome","author":"Berg","year":"1970"},{"key":"10.1016\/j.jaapos.2005.05.010_bib2","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1001\/archopht.1966.03850010216012","article-title":"Ocular abnormalities in the de Lange syndrome","volume":"76","author":"Nicholson","year":"1966","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.jaapos.2005.05.010_bib3","first-page":"34","article-title":"Ocular symptoms in the Cornelia de Lange syndrome","volume":"175","author":"Evens","year":"1977","journal-title":"Bull Soc Belge Opthalmol"},{"key":"10.1016\/j.jaapos.2005.05.010_bib4","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/0002-9394(72)90897-5","article-title":"Ocular anomalies in de Lange syndrome","volume":"74","author":"Milot","year":"1972","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jaapos.2005.05.010_bib5","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1001\/archpedi.1964.02090010525011","article-title":"The de Lange syndrome","volume":"108","author":"Silver","year":"1964","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.jaapos.2005.05.010_bib6","first-page":"1185","article-title":"De Lange syndrome","volume":"96","author":"McArthur","year":"1967","journal-title":"Can Med Assoc J"},{"key":"10.1016\/j.jaapos.2005.05.010_bib7","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1055\/s-0028-1091799","article-title":"Neurologic and psychometric findings in the Brachmann-de Lange syndrome","volume":"3","author":"Barr","year":"1971","journal-title":"Neurop\u00e4diatrie"},{"key":"10.1016\/j.jaapos.2005.05.010_bib8","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/ajmg.1320200306","article-title":"Sixty-four patients with Brachmann-de Lange syndrome","volume":"20","author":"Hawley","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib9","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1203\/00006450-197610000-00006","article-title":"A behavioral phenotype in the de Lange syndrome","volume":"10","author":"Johnson","year":"1976","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jaapos.2005.05.010_bib10","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1044\/jshd.5302.219","article-title":"Normal language skills and normal intelligence in a child with de Lange syndrome","volume":"53","author":"Cameroon","year":"1988","journal-title":"J Speech Hear Disord."},{"key":"10.1016\/j.jaapos.2005.05.010_bib11","first-page":"251","article-title":"Psycho-social assessment of 36 de Lange patients","volume":"31","author":"Beck","year":"1987","journal-title":"J Ment Defic Res"},{"key":"10.1016\/j.jaapos.2005.05.010_bib12","first-page":"22","article-title":"The etiology of the Brachmann-de Lange syndrome","author":"Opitz","year":"1965","journal-title":"Birth Defects Reprint Series The National Foundation-March of Dimes"},{"key":"10.1016\/j.jaapos.2005.05.010_bib13","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1111\/j.1651-2227.1976.tb04943.x","article-title":"Epidemiology of Cornelia de Lange syndrome","volume":"65","author":"Beck","year":"1976","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/j.jaapos.2005.05.010_bib14","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1136\/adc.38.200.349","article-title":"Typus degenerativus Amstelodamensis","volume":"38","author":"Schlesinger","year":"1963","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jaapos.2005.05.010_bib15","first-page":"325","article-title":"The de Lange syndrome","volume":"109","author":"Hartz","year":"1965","journal-title":"Am J Dis Child."},{"key":"10.1016\/j.jaapos.2005.05.010_bib16","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1542\/peds.37.1.92","article-title":"Familial de Lange syndrome with chromosome abnormalities","volume":"37","author":"Falek","year":"1966","journal-title":"Pediatrics."},{"key":"10.1016\/j.jaapos.2005.05.010_bib17","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0022-3476(63)80234-6","article-title":"The Cornelia de Lange syndrome","volume":"63","author":"Ptacek","year":"1963","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaapos.2005.05.010_bib18","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1111\/j.1651-2227.1985.tb10028.x","article-title":"Mortality, pathological findings and causes of death in the de Lange syndrome","volume":"74","author":"Beck","year":"1985","journal-title":"Acta Pediatr Scand"},{"key":"10.1016\/j.jaapos.2005.05.010_bib19","first-page":"713","article-title":"Sur un type nouveau de degeneration (typus Amstelodamensis)","volume":"36","author":"De Lange","year":"1933","journal-title":"Arch Med Enf"},{"key":"10.1016\/j.jaapos.2005.05.010_bib20","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/ajmg.1320220110","article-title":"The Brachmann-de Lange syndrome","volume":"22","author":"Opitz","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib21","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1001\/archpedi.1973.04160050065013","article-title":"Brachmann-de Lange syndrome","volume":"125","author":"Lieber","year":"1973","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.jaapos.2005.05.010_bib22","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0002-9394(88)90845-8","article-title":"Lacrimal anomalies in Brachmann-de Lange syndrome","volume":"106","author":"Vilo-Coro","year":"1988","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jaapos.2005.05.010_bib23","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.1320160303","article-title":"Definition and diagnosis of the Brachmann-de Lange syndrome","volume":"16","author":"Preus","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib24","first-page":"81","article-title":"Syndrome Brachmann-de Langeove u ctyr kojencu","volume":"43","author":"Vorechovsky","year":"1988","journal-title":"Cesk Pediatr"},{"key":"10.1016\/j.jaapos.2005.05.010_bib25","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/ajmg.1320250119","article-title":"Familial occurrence of Brachmann-de Lange syndrome","volume":"25","author":"Bankier","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib26","doi-asserted-by":"crossref","first-page":"94","DOI":"10.3928\/0191-3913-19900301-11","article-title":"Ophthalmologic findings in the Cornelia de Lange syndrome","volume":"27","author":"Levin","year":"1990","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.jaapos.2005.05.010_bib27","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1002\/ajmg.1320470703","article-title":"De Lange syndrome","volume":"47","author":"Jackson","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib28","series-title":"Management of genetic syndromes","first-page":"86","author":"Cassidy","year":"2001"},{"key":"10.1016\/j.jaapos.2005.05.010_bib29","first-page":"1","article-title":"Normal values for selected parameters: an aid to syndrome delineation. Birth Defects: Original Article Series","volume":"10","author":"Feingold","year":"1974","journal-title":"The National Foundation-March of Dimes"},{"key":"10.1016\/j.jaapos.2005.05.010_bib30","first-page":"397","article-title":"Epicanthal folds and the problem of telecanthus","volume":"83","author":"Mustard\u00e9","year":"1963","journal-title":"Trans Ophthalmol Soc UK"},{"key":"10.1016\/j.jaapos.2005.05.010_bib31","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng1364","article-title":"Cornelia de Lange syndrome is caused by mutations in the NIPBL, the human homolog of Drosphilia melanogaster Nipped-B","volume":"36","author":"Krantz","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib32","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/ng1363","article-title":"NIPBL, encoding a homolog of fungal Scc2-type sister cromatid cohesion proteins and fly Nipped \u2013B, is mutated in Cornelia de Lange syndrome","volume":"36","author":"Tonkin","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib33","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/ajmg.1320220112","article-title":"Brachmann-de Lange syndrome","volume":"22","author":"Robinson","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib34","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/424698","article-title":"NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations","volume":"74","author":"Gillis","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib35","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1136\/jmg.28.9.639","article-title":"A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome","volume":"28","author":"Ireland","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaapos.2005.05.010_bib36","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1002\/ajmg.1320470727","article-title":"Partial duplication of 3q(q25.1-q26.1) without Brachmann-de Lange phenotype","volume":"47","author":"Lopez-Rangel","year":"1993","journal-title":"Am J Med Genet"}],"container-title":["Journal of American Association for Pediatric Ophthalmology and Strabismus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1091853105001734?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1091853105001734?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T20:13:07Z","timestamp":1761077587000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1091853105001734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["S1091853105001734"],"URL":"https:\/\/doi.org\/10.1016\/j.jaapos.2005.05.010","relation":{},"ISSN":["1091-8531"],"issn-type":[{"value":"1091-8531","type":"print"}],"subject":[],"published":{"date-parts":[[2005,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ophthalmologic Findings in the Cornelia de Lange Syndrome","name":"articletitle","label":"Article Title"},{"value":"Journal of American Association for Pediatric Ophthalmology and Strabismus","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaapos.2005.05.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}