Literature DB >> 12714415

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

R V Jamieson1, L Gaunt, D Donnai, G C M Black, B Kerr, O Stecko, G C M Black.   

Abstract

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Year:  2003        PMID： 12714415      PMCID： PMC1771664          DOI： 10.1136/bjo.87.5.646-a

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  4 in total

1.  Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene.

Authors:  R H Flomen; R Vatcheva; P A Gorman; P R Baptista; J Groet; I Barisić; I Ligutic; D Nizetić
Journal:  Genomics       Date:  1998-02-01       Impact factor: 5.736

2.  The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Authors:  D Y Nishimura; R E Swiderski; W L Alward; C C Searby; S R Patil; S R Bennet; A B Kanis; J M Gastier; E M Stone; V C Sheffield
Journal:  Nat Genet       Date:  1998-06       Impact factor: 38.330

3.  Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Authors:  J Fantes; B Redeker; M Breen; S Boyle; J Brown; J Fletcher; S Jones; W Bickmore; Y Fukushima; M Mannens
Journal:  Hum Mol Genet       Date:  1995-03       Impact factor: 6.150

4.  Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Authors:  Robyn V Jamieson; Rahat Perveen; Bronwyn Kerr; Martin Carette; Jill Yardley; Elise Heon; M Gabriela Wirth; Veronica van Heyningen; Di Donnai; Francis Munier; Graeme C M Black
Journal:  Hum Mol Genet       Date:  2002-01-01       Impact factor: 6.150
  4 in total
  2 in total

1.  Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Authors:  Emre Zafer; Jeanne Meck; Liora Gerrad; Elon Pras; Moshe Frydman; Orit Reish; Isaac Avni; Eran Pras
Journal:  Mol Vis       Date:  2008-03-14       Impact factor: 2.367

2.  Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.

Authors:  Kulvinder Kaur; Nicola K Ragge; Jiannis Ragoussis
Journal:  Mol Vis       Date:  2009-07-13       Impact factor: 2.367
  2 in total

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