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Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Ophthalmology (Rochester, Minn.), 2012-09, Vol.119 (9), p.1917-1923

2012

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Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 2010-06, Vol.117 (6), p.1190-1198

2010

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Antiestrogens: structure-activity relationships and use in breast cancer treatment

Journal of molecular endocrinology, 2017-01, Vol.58 (1), p.R15-R31

2017

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GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

American journal of human genetics, 2012-02, Vol.90 (2), p.331-339

2012

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Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success

Proceedings of the National Academy of Sciences - PNAS, 2005-04, Vol.102 (17), p.6177-6182

2005

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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Journal of medical genetics, 2010-07, Vol.47 (7), p.453-463

2010

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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

JAMA ophthalmology, 2014-12, Vol.132 (12), p.1393

2014

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Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein

Proceedings of the National Academy of Sciences - PNAS, 2005-07, Vol.102 (27), p.9553-9558

2005

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Evaluation of clinical relevance of examining K-ras, p16 and p53 mutations along with allelic losses at 9p and 18q in EUS-guided fine needle aspiration samples of patients with chronic pancreatitis and pancreatic cancer

World journal of gastroenterology : WJG, 2007-07, Vol.13 (27), p.3714

2007

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human mutation, 2022-07, Vol.43 (7), p.832-858

2022

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A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

Human mutation, 2015-07, Vol.36 (7), p.720-727

2015

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X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

American journal of human genetics, 2012-02, Vol.90 (2), p.247-259

2012

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Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature

Ophthalmic genetics, 2018-01, Vol.39 (1), p.51-55

2018

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Human mutation, 2011-06, Vol.32 (6), p.610-619

2011

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Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Science (American Association for the Advancement of Science), 2004-06, Vol.304 (5676), p.1509-1513

2004

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Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

JAMA ophthalmology, 2013-02, Vol.131 (2), p.178

2013

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Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients

Retina (Philadelphia, Pa.), 2011-03, Vol.31 (3), p.581-595

2011

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Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Investigative ophthalmology & visual science, 2004-10, Vol.45 (10), p.3683-3689

2004

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Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

Journal of medical genetics, 2006-03, Vol.43 (3), p.e11-e11

2006

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

PloS one, 2016-04, Vol.11 (4), p.e0153757-e0153757

2016

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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Nature genetics, 2003-12, Vol.35 (4), p.318-321

2003

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Ophthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation in ZEB2

Ophthalmic genetics, 2012-09, Vol.33 (3), p.159-160

2012

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Heterozygous and Homozygous Mutations in PITX3 in a Large Lebanese Family with Posterior Polar Cataracts and Neurodevelopmental Abnormalities

Investigative ophthalmology & visual science, 2006-04, Vol.47 (4), p.1274-1280

2006

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Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

Ophthalmic genetics, 2013-12, Vol.34 (4), p.183-188

2013

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Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

Antiestrogens: structure-activity relationships and use in breast cancer treatment

GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein

Evaluation of clinical relevance of examining K-ras, p16 and p53 mutations along with allelic losses at 9p and 18q in EUS-guided fine needle aspiration samples of patients with chronic pancreatitis and pancreatic cancer

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients

Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Ophthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation in ZEB2

Heterozygous and Homozygous Mutations in PITX3 in a Large Lebanese Family with Posterior Polar Cataracts and Neurodevelopmental Abnormalities

Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

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