Literature DB >> 7065946

Bardet-Biedl syndrome and related disorders.

A P Schachat, I H Maumenee.   

Abstract

The Bardet-Beidl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity.

Entities:  

Mesh：

Year:  1982        PMID： 7065946     DOI： 10.1001/archopht.1982.01030030287011

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  30 in total

1.  Multiple malformations in a newborn goat.

Authors:  C Gutierrez; J L Rodriguez; E Castellano; E Palomino; J A Corbera; J A Montoya
Journal:  Can Vet J       Date:  2000-07       Impact factor: 1.008

2.  A patient with features of both Bardet-Biedl and Alström syndromes.

Authors:  C Hauser; C Rojas; A Roth; E Schmied; J H Saurat
Journal:  Eur J Pediatr       Date:  1990-08       Impact factor: 3.183

3.  Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Authors:  Susan J Moore; Jane S Green; Yanli Fan; Ashvinder K Bhogal; Elizabeth Dicks; Bridget A Fernandez; Mark Stefanelli; Christopher Murphy; Benvon C Cramer; John C S Dean; Philip L Beales; Nicholas Katsanis; Anne S Bassett; William S Davidson; Patrick S Parfrey
Journal:  Am J Med Genet A       Date:  2005-02-01       Impact factor: 2.802

4.  Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

Authors:  Christina Gerth; Robert J Zawadzki; John S Werner; Elise Héon
Journal:  Vision Res       Date:  2007-11-05       Impact factor: 1.886

5.  Polydactyly and partial blindness.

Authors:  V R Kodali
Journal:  Postgrad Med J       Date:  1997-11       Impact factor: 2.401

6.  Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

Authors:  R Riise; S Andréasson; M K Borgaström; A F Wright; N Tommerup; T Rosenberg; K Tornqvist
Journal:  Br J Ophthalmol       Date:  1997-05       Impact factor: 4.638

7.  LAURENCE-MOON-BARDET-BIEDL SYNDROME - PRESENTING WITH ACUTE ONSET OF DIABETES MELLITUS.

Authors:  M K Garg; S V Madhu; C S Dwarakanath; A C Ammini
Journal:  Med J Armed Forces India       Date:  2017-06-26

8.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 9.  Ophthalmic clues to the endocrine disorders.

Authors:  Z Liu; Y Chen; Z Lin; X Shi
Journal:  J Endocrinol Invest       Date:  2016-08-27       Impact factor: 4.256

10.  Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet-Biedl syndrome.

Authors:  A Praidou; R Hagan; H Nayak; A Chandna
Journal:  Eye (Lond)       Date:  2014-07-04       Impact factor: 3.775
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