Literature DB >> 29769628

CUGC for congenital primary aphakia.

Hajrah Sarkar1, William Moore2, Bart P Leroy3,4, Mariya Moosajee5,6,7.   

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Year:  2018        PMID： 29769628      PMCID： PMC6057980          DOI： 10.1038/s41431-018-0171-x

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


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  8 in total

1.  Ultrasound prenatal diagnosis of congenital primary aphakia: case report.

Authors:  Filippo Di Meglio; Carmine Vascone; Letizia Di Meglio; Luigi Carlo Lo Turco; Salvatore Giovanni Vitale; Pietro Cignini; Gaetano Valenti; Ferdinando Antonio Gulino; Agnese Maria Chiara Rapisarda; Stefano Cianci
Journal:  J Prenat Med       Date:  2015 Jan-Jun

2.  Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.

Authors:  E V Semina; I Brownell; H A Mintz-Hittner; J C Murray; M Jamrich
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

3.  Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Authors:  Sophie Valleix; Florence Niel; Brigitte Nedelec; Marie-Paule Algros; Claire Schwartz; Bernard Delbosc; Marc Delpech; Bernadette Kantelip
Journal:  Am J Hum Genet       Date:  2006-06-08       Impact factor: 11.025

4.  FOXE3 plays a significant role in autosomal recessive microphthalmia.

Authors:  Linda M Reis; Rebecca C Tyler; Adele Schneider; Tanya Bardakjian; Joan M Stoler; Serge B Melancon; Elena V Semina
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

5.  A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Authors:  Lance Doucette; Jane Green; Bridget Fernandez; Gordon J Johnson; Patrick Parfrey; Terry-Lynn Young
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

6.  A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Authors:  Iram Anjum; Hans Eiberg; Shahid Mahmood Baig; Niels Tommerup; Lars Hansen
Journal:  Mol Vis       Date:  2010-03-30       Impact factor: 2.367

7.  Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Authors:  Sibel Ugur Iseri; Robert J Osborne; Martin Farrall; Alexander William Wyatt; Ghazala Mirza; Gudrun Nürnberg; Christian Kluck; Helen Herbert; Angela Martin; Muhammad Sajid Hussain; J Richard O Collin; Mark Lathrop; Peter Nürnberg; Jiannis Ragoussis; Nicola K Ragge
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

Review 8.  Molecular and developmental mechanisms of anterior segment dysgenesis.

Authors:  J C Sowden
Journal:  Eye (Lond)       Date:  2007-10       Impact factor: 3.775
  8 in total

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