{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:37:34Z","timestamp":1762101454938},"reference-count":20,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.gene.2013.07.031","type":"journal-article","created":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T03:49:07Z","timestamp":1375760947000},"page":"186-189","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature"],"prefix":"10.1016","volume":"529","author":[{"given":"Cl\u00e1udia","family":"Melo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Gama-de-Sousa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filipa","family":"Almeida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Rendeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Purifica\u00e7\u00e3o","family":"Tavares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Cardoso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f3nia","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.gene.2013.07.031_bb0005","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/BF00282012","article-title":"The \u201ccat eye syndrome\u201d: dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture","volume":"57","author":"Schinzel","year":"1981","journal-title":"Hum. Genet."},{"issue":"4750","key":"10.1016\/j.gene.2013.07.031_bb0010","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1126\/science.3961499","article-title":"Characterization of the supernumerary chromosome in cat eye syndrome","volume":"232","author":"McDermid","year":"1986","journal-title":"Science"},{"issue":"5","key":"10.1016\/j.gene.2013.07.031_bb0015","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1086\/340363","article-title":"Genomic disorders on 22q11","volume":"70","author":"McDermid","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.gene.2013.07.031_bb0020","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1590\/S0104-42302010000400021","article-title":"Clinical characteristics of a sample of patients with cat eye syndrome","volume":"56","author":"Rosa","year":"2010","journal-title":"Rev. Assoc. Med. Bras."},{"issue":"11","key":"10.1016\/j.gene.2013.07.031_bb0025","doi-asserted-by":"crossref","first-page":"1928","DOI":"10.1016\/j.jpedsurg.2007.07.030","article-title":"Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease","volume":"42","author":"Prieto","year":"2007","journal-title":"J. Pediatr. Surg."},{"issue":"8","key":"10.1016\/j.gene.2013.07.031_bb0030","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1016\/j.jpedsurg.2007.03.059","article-title":"Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association","volume":"42","author":"Sinha","year":"2007","journal-title":"J. Pediatr. Surg."},{"issue":"3","key":"10.1016\/j.gene.2013.07.031_bb0035","first-page":"273","article-title":"Phenotypic variability of the cat eye syndrome. Case report and review of the literature","volume":"12","author":"Rosias","year":"2001","journal-title":"Genet. Couns."},{"issue":"1","key":"10.1016\/j.gene.2013.07.031_bb0040","first-page":"23","article-title":"Phenotypic variability of cat-eye syndrome","volume":"12","author":"Berends","year":"2001","journal-title":"Genet. Couns."},{"issue":"10","key":"10.1016\/j.gene.2013.07.031_bb0045","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1007\/s004310050707","article-title":"Magnetic resonance images of 91 children with different causes of short stature: pituitary size reflects growth hormone secretion","volume":"156","author":"Nagel","year":"1997","journal-title":"Eur. J. Pediatr."},{"issue":"4","key":"10.1016\/j.gene.2013.07.031_bb0050","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/j.1365-2265.2006.02484.x","article-title":"Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia","volume":"64","author":"Simon","year":"2006","journal-title":"Clin. Endocrinol. (Oxf)"},{"issue":"9","key":"10.1016\/j.gene.2013.07.031_bb0055","first-page":"835","article-title":"Cat eye syndrome with pituitary dwarfism and normal mental development","volume":"32","author":"Pierson","year":"1975","journal-title":"Arch. Fr Pediatr."},{"issue":"10","key":"10.1016\/j.gene.2013.07.031_bb0060","doi-asserted-by":"crossref","first-page":"853","DOI":"10.2169\/internalmedicine.37.853","article-title":"Cat eye syndrome with hypogonadotropic hypogonadism","volume":"37","author":"Masukawa","year":"1998","journal-title":"Intern. Med."},{"issue":"1","key":"10.1016\/j.gene.2013.07.031_bb0065","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF00281567","article-title":"The 11q;22q translocation: a European collaborative analysis of 43 cases","volume":"56","author":"Fraccaro","year":"1980","journal-title":"Hum. Genet."},{"issue":"5","key":"10.1016\/j.gene.2013.07.031_bb0070","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.ejmg.2010.05.003","article-title":"Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion","volume":"53","author":"Gerkes","year":"2010","journal-title":"Eur. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.gene.2013.07.031_bb0075","doi-asserted-by":"crossref","first-page":"43","DOI":"10.4008\/jcrpe.v1i1.13","article-title":"Constitutional growth delay pattern of growth in velo\u2013cardio\u2013facial syndrome: longitudinal follow up and final height of two cases","volume":"1","author":"Turan","year":"2008","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"issue":"5","key":"10.1016\/j.gene.2013.07.031_bb0080","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1542\/peds.101.5.929","article-title":"Growth hormone deficiency in patients with a 22q11.2 deletion: expanding the phenotype","volume":"101","author":"Weinzimer","year":"1998","journal-title":"Pediatrics"},{"issue":"6","key":"10.1016\/j.gene.2013.07.031_bb0085","first-page":"527","article-title":"Growth hormone deficiency associated with 22q11.2 deletion: a case report","volume":"63","author":"Bizzocchi","year":"2011","journal-title":"Minerva Pediatr."},{"issue":"5","key":"10.1016\/j.gene.2013.07.031_bb0090","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1086\/323764","article-title":"Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4","volume":"69","author":"Machinis","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.gene.2013.07.031_bb0095","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1086\/430134","article-title":"Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism","volume":"76","author":"Woods","year":"2005","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.gene.2013.07.031_bb0100","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/477","article-title":"Mutations in the homeobox gene HESX1\/Hesx1 associated with septo-optic dysplasia in human and mouse","volume":"19","author":"Dattani","year":"1998","journal-title":"Nat. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913009207?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913009207?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T02:26:19Z","timestamp":1715826379000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913009207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S0378111913009207"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.07.031","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.07.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}