Literature DB >> 8508343

Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1.

J A Kylstra, A S Aylsworth.   

Abstract

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Year:  1993        PMID： 8508343

Source DB:  PubMed          Journal:  Can J Ophthalmol        ISSN： 0008-4182            Impact factor:   1.882


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  9 in total

1.  A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Authors:  M Papaioannou; D Bessant; A Payne; J Bellingham; C Rougas; A Loutradis-Anagnostou; C Gregory-Evans; A Balassopoulou; S Bhattacharya
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

Review 2.  Molecular genetics of macular dystrophies.

Authors:  K Zhang; H Yeon; M Han; L A Donoso
Journal:  Br J Ophthalmol       Date:  1996-11       Impact factor: 4.638

3.  Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

Authors:  Muhammad Ismail; Aiysha Abid; Khalid Anwar; S Qasim Mehdi; Shagufta Khaliq
Journal:  J Hum Genet       Date:  2006-08-03       Impact factor: 3.172

Review 4.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

5.  Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.

Authors:  C Y Gregory; K Evans; J L Whittaker; A Fryer; J Weissenbach; S S Bhattacharya
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

6.  Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

Authors:  Maria Garcia-Hoyos; Carmen Laura Auz-Alexandre; Berta Almoguera; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Miguel Angel Lopez-Martinez; Ascension Gimenez; Fiona Blanco-Kelly; Almudena Avila-Fernandez; Maria Jose Trujillo-Tiebas; Blanca Garcia-Sandoval; Carmen Ramos; Carmen Ayuso
Journal:  Mol Vis       Date:  2011-04-29       Impact factor: 2.367

7.  Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.

Authors:  Juliette J Kahle; Natali Gulbahce; Chad A Shaw; Janghoo Lim; David E Hill; Albert-László Barabási; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2010-11-15       Impact factor: 6.150

Review 8.  Cone rod dystrophies.

Authors:  Christian P Hamel
Journal:  Orphanet J Rare Dis       Date:  2007-02-01       Impact factor: 4.123

9.  Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Authors:  Nashila Hirji; Patrick D Bradley; Shuning Li; Ajoy Vincent; Mark E Pennesi; Akshay S Thomas; Elise Heon; Aparna Bhan; Omar A Mahroo; Anthony Robson; Chris F Inglehearn; Anthony T Moore; Michel Michaelides
Journal:  Am J Ophthalmol       Date:  2018-02-05       Impact factor: 5.258
  9 in total

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