Literature DB >> 13683558

Syndrome of coloboma with multiple congenital abnormalities in infancy.

H ANGELMAN.   

Abstract

Entities:  

Keywords:  BRAIN/abnormalities; EYE; HEART DEFECTS, CONGENITAL/complications

Mesh：

Year:  1961        PMID： 13683558      PMCID： PMC1953999          DOI： 10.1136/bmj.1.5234.1212

Source DB:  PubMed          Journal:  Br Med J        ISSN： 0007-1447


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  1 in total

1.  [An unusual syndrome of multiple malformations (association of ocular, cardiac and urinary tract malformations)].

Authors:  D ROLANDO; R JEMMA
Journal:  Pediatria (Napoli)       Date:  1959 May-Jun
  1 in total
  7 in total

1.  [Chorionepithelioma of the testis in multiple congenital malformations. A tumor-malformation syndrome?].

Authors:  U Gottstein; W Remmele
Journal:  Langenbecks Arch Chir       Date:  1966

Review 2.  CHARGE syndrome: a review of the immunological aspects.

Authors:  Monica T Y Wong; Elisabeth H Schölvinck; Annechien J A Lambeck; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2015-02-18       Impact factor: 4.246

3.  The Joubert syndrome associated with bilateral chorioretinal coloboma.

Authors:  D Lindhout; P G Barth; J Valk; T N Boen-Tan
Journal:  Eur J Pediatr       Date:  1980-08       Impact factor: 3.183

4.  Uveal coloboma and true Klinefelter syndrome.

Authors:  J François; M T Leuven; P Gombault
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

5.  Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

Authors:  C K Ho; R L Kaufman; S M Podos
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

6.  A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.

Authors:  Alina Ilie; Andy Y L Gao; Jonathan Reid; Annie Boucher; Cassandra McEwan; Hervé Barrière; Gergely L Lukacs; R Anne McKinney; John Orlowski
Journal:  Mol Neurodegener       Date:  2016-09-02       Impact factor: 14.195

7.  A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing.

Authors:  Yurie Fukiyama; Masahiro Tonari; Junko Matsuo; Hidehiro Oku; Jun Sugasawa; Shuichi Shimakawa; Tohru Ogihara; Nobuhiko Okamoto; Tsunehiko Ikeda
Journal:  Case Rep Ophthalmol       Date:  2018-02-01
  7 in total

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