Literature DB >> 2591073

High incidence of Bardet Biedl syndrome among the Bedouin.

T I Farag, A S Teebi.   

Abstract

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Year:  1989        PMID： 2591073     DOI： 10.1111/j.1399-0004.1989.tb03378.x

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


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  40 in total

1.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

Authors:  T L Young; L Penney; M O Woods; P S Parfrey; J S Green; D Hefferton; W S Davidson
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

3.  A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.

Authors:  B Pawlik; A Mir; H Iqbal; Y Li; G Nürnberg; C Becker; R Qamar; P Nürnberg; B Wollnik
Journal:  Mol Syndromol       Date:  2010-01-15

4.  Multiple pterygium syndrome: a relatively common disorder among Arabs.

Authors:  A S Teebi; A S Daoud
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

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

Authors:  Anne Slavotinek; Philip Beales
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

6.  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 7.  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

8.  Kuwait type faciodigitogenital syndrome.

Authors:  A S Teebi; S A al Awadi
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

9.  Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Authors:  Zohreh Fattahi; Parvin Rostami; Amin Najmabadi; Marzieh Mohseni; Kimia Kahrizi; Mohammad Reza Akbari; Ariana Kariminejad; Hossein Najmabadi
Journal:  J Hum Genet       Date:  2014-05-22       Impact factor: 3.172

Review 10.  Bardet-Biedl Syndrome.

Authors:  Evgeny N Suspitsin; Evgeny N Imyanitov
Journal:  Mol Syndromol       Date:  2016-04-15
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