Literature DB >> 21150877

Clinical utility gene card for: Bardet-Biedl syndrome.

Anne Slavotinek1, Philip Beales.   

Abstract

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Year:  2010        PMID： 21150877      PMCID： PMC3061994          DOI： 10.1038/ejhg.2010.199

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  7 in total

1.  High incidence of Bardet Biedl syndrome among the Bedouin.

Authors:  T I Farag; A S Teebi
Journal:  Clin Genet       Date:  1989-12       Impact factor: 4.438

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

Authors:  T I Farag; A S Teebi
Journal:  Clin Genet       Date:  1988-02       Impact factor: 4.438

3.  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

4.  Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

Authors:  Paul S Cannon; Jill Clayton-Smith; Philip L Beales; I Christopher Lloyd
Journal:  Ophthalmic Genet       Date:  2008-09       Impact factor: 1.803

5.  The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Authors:  J S Green; P S Parfrey; J D Harnett; N R Farid; B C Cramer; G Johnson; O Heath; P J McManamon; E O'Leary; W Pryse-Phillips
Journal:  N Engl J Med       Date:  1989-10-12       Impact factor: 91.245

6.  Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Authors:  Carmen C Leitch; Norann A Zaghloul; Erica E Davis; Corinne Stoetzel; Anna Diaz-Font; Suzanne Rix; Majid Alfadhel; Majid Al-Fadhel; Richard Alan Lewis; Wafaa Eyaid; Eyal Banin; Helene Dollfus; Philip L Beales; Jose L Badano; Nicholas Katsanis
Journal:  Nat Genet       Date:  2008-03-09       Impact factor: 38.330

7.  Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Authors:  Philip L Beales; Jose L Badano; Alison J Ross; Stephen J Ansley; Bethan E Hoskins; Brigitta Kirsten; Charles A Mein; Philippe Froguel; Peter J Scambler; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2003-04-03       Impact factor: 11.025
  7 in total
  3 in total

1.  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

2.  Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.

Authors:  Xiang Wang; Zhu Zhang; Xueguang Zhang; Ying Shen; Hongqian Liu
Journal:  Hum Genomics       Date:  2020-06-29       Impact factor: 4.639

3.  Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.

Authors:  Min Kyeong Kim; Soo Heon Kwak; Shinae Kang; Hye Seung Jung; Young Min Cho; Seong Yeon Kim; Kyong Soo Park
Journal:  Diabetes Metab J       Date:  2015-10-22       Impact factor: 5.376
  3 in total

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