Literature DB >> 21242988

A possible genetic answer to a recently reported novel phenotype.

K Khan, M Ali, C Inglehearn.   

Abstract

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Year:  2011        PMID: 21242988      PMCID: PMC3171235          DOI: 10.1038/eye.2010.212

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN: 0950-222X            Impact factor:   3.775


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  5 in total

Review 1.  The Marfan syndrome.

Authors:  R E Pyeritz
Journal:  Annu Rev Med       Date:  2000       Impact factor: 13.739

2.  The revised Ghent nosology for the Marfan syndrome.

Authors:  Bart L Loeys; Harry C Dietz; Alan C Braverman; Bert L Callewaert; Julie De Backer; Richard B Devereux; Yvonne Hilhorst-Hofstee; Guillaume Jondeau; Laurence Faivre; Dianna M Milewicz; Reed E Pyeritz; Paul D Sponseller; Paul Wordsworth; Anne M De Paepe
Journal:  J Med Genet       Date:  2010-07       Impact factor: 6.318

3.  Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein.

Authors:  W Shen; Q Fu; R Sui; J Wu; L Liu
Journal:  Eye (Lond)       Date:  2010-06-04       Impact factor: 3.775

4.  Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.

Authors:  Russell H Mellor; Glen Brice; Anthony W B Stanton; Jane French; Alberto Smith; Steve Jeffery; J Rodney Levick; Kevin G Burnand; Peter S Mortimer
Journal:  Circulation       Date:  2007-03-19       Impact factor: 29.690

5.  Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

Authors:  R S Smith; A Zabaleta; T Kume; O V Savinova; S H Kidson; J E Martin; D Y Nishimura; W L Alward; B L Hogan; S W John
Journal:  Hum Mol Genet       Date:  2000-04-12       Impact factor: 6.150

  5 in total

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