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The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies—the clinical phenotype of Leber congenital amaurosis

British Journal of Ophthalmology, 2010-10, Vol.94 (10), p.1281-1287

Traboulsi, E I

2010

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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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Ocular pathology in congenital heart disease

Eye (London), 2005-01, Vol.19 (1), p.29-34

2005

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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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A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

American journal of ophthalmology, 1998-07, Vol.126 (1), p.17-28

1998

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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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APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis

Gut, 1997-04, Vol.40 (4), p.521-525

1997

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An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

British journal of ophthalmology, 2005-08, Vol.89 (8), p.1065-1066

2005

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Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience

Eye (London), 2016-09, Vol.30 (9), p.1170-1174

2016

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Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome

American journal of ophthalmology, 1999-03, Vol.127 (3), p.356-357

1999

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Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn)

Ophthalmology (Rochester, Minn.), 1999-11, Vol.106 (11), p.2126-2130

1999

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Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

American journal of ophthalmology, 1993-03, Vol.115 (3), p.360-367

1993

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Dominant Inheritance of Optic Pits

American journal of ophthalmology, 1997-07, Vol.124 (1), p.112-113

1997

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X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

American journal of human genetics, 2002-04, Vol.70 (4), p.1049-1053

2002

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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Ophthalmic genetics, 2010-03, Vol.31 (1), p.12-17

2010

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Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

Journal of neurology, 2008-06, Vol.255 (6), p.885-890

2008

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Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant

British journal of ophthalmology, 2008-04, Vol.92 (4), p.576-577

2008

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Choroidal rupture associated with forceps delivery

American journal of ophthalmology, 2000-06, Vol.129 (6), p.819-820

2000

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Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: A new syndrome with features of Waardenburg syndrome, cerebro‐oculo‐nasal syndrome, and craniotelencephalic dysplasia

American journal of medical genetics. Part A, 2003-02, Vol.117A (1), p.72-75

2003

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Strabismus in the Marfan Syndrome

American journal of ophthalmology, 1994-05, Vol.117 (5), p.632-635

1994

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Corneal opacities in gaucher disease

American journal of ophthalmology, 1998-12, Vol.126 (6), p.833-835

1998

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Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28

Journal of medical genetics, 2006-06, Vol.43 (6), p.e27-e27

2006

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Ocular Findings in Cockayne Syndrome

American journal of ophthalmology, 1992-11, Vol.114 (5), p.579-583

1992

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Choroideremia: A review of general findings and pathogenesis

Ophthalmic genetics, 2012-06, Vol.33 (2), p.57-65

2012

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Ocular Histopathologic Characteristics of Cobalamin C Type Vitamin B12 Defect With Methylmalonic Aciduria and Homocystinuria

American journal of ophthalmology, 1992-03, Vol.113 (3), p.269-280

1992

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The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies—the clinical phenotype of Leber congenital amaurosis

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

Ocular pathology in congenital heart disease

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

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

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

APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience

Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome

Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn)

Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

Dominant Inheritance of Optic Pits

X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant

Choroidal rupture associated with forceps delivery

Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: A new syndrome with features of Waardenburg syndrome, cerebro‐oculo‐nasal syndrome, and craniotelencephalic dysplasia

Strabismus in the Marfan Syndrome

Corneal opacities in gaucher disease

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28

Ocular Findings in Cockayne Syndrome

Choroideremia: A review of general findings and pathogenesis

Ocular Histopathologic Characteristics of Cobalamin C Type Vitamin B12 Defect With Methylmalonic Aciduria and Homocystinuria

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