Literature DB >> 11333870

Does Bardet-Biedl syndrome have a characteristic face?

I Lorda-Sanchez, C Ayuso, R Sanz, A Ibañez.   

Abstract

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Year:  2001        PMID： 11333870      PMCID： PMC1734874          DOI： 10.1136/jmg.38.5.e14

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  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

2.  Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.

Authors:  Jonathan L Tobin; Matt Di Franco; Erica Eichers; Helen May-Simera; Monica Garcia; Jiong Yan; Robyn Quinlan; Monica J Justice; Raoul C Hennekam; James Briscoe; Masazumi Tada; Roberto Mayor; Alan J Burns; James R Lupski; Peter Hammond; Philip L Beales
Journal:  Proc Natl Acad Sci U S A       Date:  2008-04-28       Impact factor: 11.205

3.  Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.

Authors:  Makiri Kawasaki; Yayoi Izu; Tadayoshi Hayata; Hisashi Ideno; Akira Nifuji; Val C Sheffield; Yoichi Ezura; Masaki Noda
Journal:  Bone       Date:  2016-05-08       Impact factor: 4.398

4.  Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.

Authors:  Elizabeth N Schock; Ching-Fang Chang; Jaime N Struve; Ya-Ting Chang; Julie Chang; Mary E Delany; Samantha A Brugmann
Journal:  Dis Model Mech       Date:  2015-06-04       Impact factor: 5.758

5.  A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.

Authors:  Rebekkah J Hitti-Malin; Louise M Burmeister; Frode Lingaas; Maria Kaukonen; Inka Pettinen; Hannes Lohi; David Sargan; Cathryn S Mellersh
Journal:  Genes (Basel)       Date:  2021-11-08       Impact factor: 4.096
  5 in total

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