Literature DB >> 16622108

Congenital iris ectropion as an indicator of variant aniridia.

C Willcock, J Grigg, M Wilson, P Tam, F Billson, R Jamieson.   

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Year:  2006        PMID： 16622108      PMCID： PMC1857026          DOI： 10.1136/bjo.2005.089698

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


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  9 in total

1.  A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

Authors:  S Sonoda; Y Isashiki; Y Tabata; K Kimura; T Kakiuchi; N Ohba
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2000-07       Impact factor: 3.117

2.  Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.

Authors:  N Azuma; M Yamada
Journal:  Invest Ophthalmol Vis Sci       Date:  1998-04       Impact factor: 4.799

3.  Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency.

Authors:  W Futterweit; R Ritch; C Teekhasaenee; E S Nelson
Journal:  JAMA       Date:  1986-06-20       Impact factor: 56.272

4.  Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae.

Authors:  Alessandra B Trovó-Marqui; Eny M Goloni-Bertollo; Marta F Teixeira; Eloiza H Tajara
Journal:  Ophthalmic Res       Date:  2004 Nov-Dec       Impact factor: 2.892

5.  Congenital ectropion uveae with glaucoma.

Authors:  R Ritch; M Forbes; J Hetherington; R Harrison; S M Podos
Journal:  Ophthalmology       Date:  1984-04       Impact factor: 12.079

6.  Criteria to detect minimal expressivity within families with autosomal dominant aniridia.

Authors:  H A Mintz-Hittner; R E Ferrell; L A Lyons; F L Kretzer
Journal:  Am J Ophthalmol       Date:  1992-12-15       Impact factor: 5.258

7.  Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene.

Authors:  Inge De Becker; Michael Walter; Léon-Paul Noël
Journal:  Can J Ophthalmol       Date:  2004-04       Impact factor: 1.882

8.  Aniridia. A review.

Authors:  L B Nelson; G L Spaeth; T S Nowinski; C E Margo; L Jackson
Journal:  Surv Ophthalmol       Date:  1984 May-Jun       Impact factor: 6.048

9.  Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

Authors:  F Mirzayans; W G Pearce; I M MacDonald; M A Walter
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025
  9 in total
  3 in total

1.  Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Authors:  Alan S Ma; John R Grigg; Gladys Ho; Ivan Prokudin; Elizabeth Farnsworth; Katherine Holman; Anson Cheng; Frank A Billson; Frank Martin; Clare Fraser; David Mowat; James Smith; John Christodoulou; Maree Flaherty; Bruce Bennetts; Robyn V Jamieson
Journal:  Hum Mutat       Date:  2016-01-14       Impact factor: 4.878

2.  A young Botswana patient with congenital iris ectropion uvea.

Authors:  Jemal Zeberga Shifa; Othokawa Nkomazana; Negussie Alula Bekele; Mamo Woldu Kassa
Journal:  Pan Afr Med J       Date:  2016-09-29

3.  Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.

Authors:  Woo Jin Kim; Jong Ha Kim; Nam Chun Cho
Journal:  Indian J Ophthalmol       Date:  2017-01       Impact factor: 1.848
  3 in total

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