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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1628-n/a

2021

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The distinct ophthalmic phenotype of Knobloch syndrome in children

British journal of ophthalmology, 2012-06, Vol.96 (6), p.890-895

2012

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Clinical characterisation of the CABP4-related retinal phenotype

British journal of ophthalmology, 2013-03, Vol.97 (3), p.262-265

2013

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‘Cone dystrophy with supranormal rod response’ in children

British journal of ophthalmology, 2012-03, Vol.96 (3), p.422-426

2012

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Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Ophthalmology retina, 2024-02, Vol.8 (2), p.155-162

2024

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Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus

Investigative ophthalmology & visual science, 2015-01, Vol.56 (1), p.578-586

2015

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Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats

Investigative ophthalmology & visual science, 2012-04, Vol.53 (4), p.1895-1904

2012

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Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Ophthalmic genetics, 2015-03, Vol.36 (1), p.58-63

2015

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Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

Molecular vision, 2011, Vol.17, p.2570-2579

2011

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The RPGRIP1-related retinal phenotype in children

British journal of ophthalmology, 2013-06, Vol.97 (6), p.760-764

2013

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RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

Investigative ophthalmology & visual science, 2014-12, Vol.56 (2), p.1261-1266

2014

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Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation

Ophthalmic genetics, 2018-10, Vol.39 (5), p.577-583

2018

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Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Investigative ophthalmology & visual science, 2009-09, Vol.50 (9), p.4142-4145

2009

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Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1

Ophthalmology retina, 2020-01, Vol.4 (1), p.77-83

2020

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Molecular characterization of retinitis pigmentosa in Saudi Arabia

Molecular vision, 2009-11, Vol.15, p.2464-2469

2009

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RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

British journal of ophthalmology, 2012-07, Vol.96 (7), p.1018-1022

2012

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Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation

Ophthalmic genetics, 2014-09, Vol.35 (3), p.130-137

2014

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Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

Molecular vision, 2010-03, Vol.16, p.369-377

2010

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Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

British journal of ophthalmology, 2012-05, Vol.96 (5), p.650-655

2012

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Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Ophthalmic genetics, 2015-03, Vol.36 (1), p.8-13

2015

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Genetic and genomic analysis of classic aniridia in Saudi Arabia

Molecular vision, 2011-03, Vol.17, p.708-714

2011

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Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

Ophthalmic genetics, 2012-12, Vol.33 (4), p.257-259

2012

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A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

Molecular vision, 2010-02, Vol.16, p.207-212

2010

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Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Ophthalmic genetics, 2012-12, Vol.33 (4), p.235-239

2012

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Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

Molecular vision, 2009-07, Vol.15, p.1407-1411

2009

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

The distinct ophthalmic phenotype of Knobloch syndrome in children

Clinical characterisation of the CABP4-related retinal phenotype

‘Cone dystrophy with supranormal rod response’ in children

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus

Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

The RPGRIP1-related retinal phenotype in children

RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1

Molecular characterization of retinitis pigmentosa in Saudi Arabia

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Genetic and genomic analysis of classic aniridia in Saudi Arabia

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

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