Literature DB >> 3359670

Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

T I Farag1, A S Teebi.   

Abstract

In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed in view of the high consanguinity rate and large family size.

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Year:  1988        PMID： 3359670     DOI： 10.1111/j.1399-0004.1988.tb03414.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  22 in total

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2.  Clinical utility gene card for: Bardet-Biedl syndrome.

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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.  Meckel syndrome and neural tube defects in Kuwait.

Authors:  A S Teebi; Q A al Saleh; H Odeh
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

5.  Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Authors:  Corinne Stoetzel; Jean Muller; Virginie Laurier; Erica E Davis; Norann A Zaghloul; Serge Vicaire; Cecile Jacquelin; Frederic Plewniak; Carmen C Leitch; Pierre Sarda; Christian Hamel; Thomy J L de Ravel; Richard Alan Lewis; Evelyne Friederich; Christelle Thibault; Jean-Marc Danse; Alain Verloes; Dominique Bonneau; Nicholas Katsanis; Olivier Poch; Jean-Louis Mandel; Helene Dollfus
Journal:  Am J Hum Genet       Date:  2006-11-15       Impact factor: 11.025

Review 6.  Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Authors:  Norann A Zaghloul; Nicholas Katsanis
Journal:  J Clin Invest       Date:  2009-03-02       Impact factor: 14.808

Review 7.  A mechanistic approach to inherited polycystic kidney disease.

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8.  Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

Authors:  P L Beales; A M Warner; G A Hitman; R Thakker; F A Flinter
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

9.  Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

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Journal:  Hum Genet       Date:  2010-10-30       Impact factor: 4.132

10.  Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Authors:  N Katsanis; R A Lewis; D W Stockton; P M Mai; L Baird; P L Beales; M Leppert; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025
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