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Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

American journal of human genetics, 2016-06, Vol.98 (6), p.1220-1227

2016

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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

PloS one, 2013-10, Vol.8 (10), p.e76831-e76831

2013

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Glaucoma and Globe Enlargement Associated with Neurofibromatosis Type 1

Ophthalmology (Rochester, Minn.), 2009-09, Vol.116 (9), p.1725-1730

2009

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Eurasian and African mitochondrial DNA influences in the Saudi Arabian population

BMC evolutionary biology, 2007-03, Vol.7, p.32

2007

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Mitochondrial Abnormalities in Patients with Primary Open-Angle Glaucoma

Investigative ophthalmology & visual science, 2006-06, Vol.47 (6), p.2533-2541

2006

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The clinical spectrum of homozygous HOXA1 mutations

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1235-1240

2008

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The genetics of nonsyndromic bilateral Duane retraction syndrome

Journal of AAPOS, 2016-10, Vol.20 (5), p.396-400.e2

2016

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Visual Loss in Orbitofacial Neurofibromatosis Type 1

Ophthalmology (Rochester, Minn.), 2012-10, Vol.119 (10), p.2168-2173

2012

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Coats-like retinopathy in Joubert syndrome

Journal of AAPOS, 2016-08, Vol.20 (4), p.372-374

2016

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A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation

BMC medical genetics, 2010-09, Vol.11 (1), p.135-135, Article 135

2010

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Optic Neuritis Associated With Tumor Necrosis Factor-Alpha Inhibitor Certolizumab

Journal of neuro-ophthalmology, 2021-12, Vol.41 (4), p.e713-e714

2021

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Bilateral Synergistic Convergence Associated with Homozygous ROB03 Mutation (p.Pro771Leu)

Ophthalmology (Rochester, Minn.), 2008-12, Vol.115 (12), p.2262-2265

2008

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Ocular motility abnormalities in orbitofacial neurofibromatosis type 1

Journal of AAPOS, 2014-08, Vol.18 (4), p.338-343

2014

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Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa

Human pathology, 2017-05, Vol.63, p.70-78

2017

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Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review

Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980), 2023-01, Vol.47 (1), p.11-19

2023

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Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature genetics, 2017-04, Vol.49 (4), p.606-612

2017

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Congenital cranial dysinnervation disorders: a concept in evolution

Current opinion in ophthalmology, 2013-09, Vol.24 (5), p.398-406

2013

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Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2329-n/a

2024

Volltextzugriff (PDF)

Mitochondrial Abnormalities in Patients with LHON-like Optic Neuropathies

Investigative ophthalmology & visual science, 2006-10, Vol.47 (10), p.4211-4220

2006

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Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

BMC medical genetics, 2011-02, Vol.12 (1), p.31-31, Article 31

2011

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Use of En Face Optical Coherence Tomography to Monitor Papilledema in Idiopathic Intracranial Hypertension: A Pilot Study

Journal of neuro-ophthalmology, 2021-06, Vol.41 (2), p.212-216

2021

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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Nature genetics, 2005-10, Vol.37 (10), p.1035-1037

2005

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Visual and neurologic sequelae of methanol poisoning in Saudi Arabia

Saudi medical journal, 2015-05, Vol.36 (5), p.568-574

2015

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Cupping of the optic disk after methanol poisoning

British journal of ophthalmology, 2015-09, Vol.99 (9), p.1220-1223

2015

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Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders

Journal of neuro-ophthalmology, 2011-03, Vol.31 (1), p.69-77

2011

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Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

Glaucoma and Globe Enlargement Associated with Neurofibromatosis Type 1

Eurasian and African mitochondrial DNA influences in the Saudi Arabian population

Mitochondrial Abnormalities in Patients with Primary Open-Angle Glaucoma

The clinical spectrum of homozygous HOXA1 mutations

The genetics of nonsyndromic bilateral Duane retraction syndrome

Visual Loss in Orbitofacial Neurofibromatosis Type 1

Coats-like retinopathy in Joubert syndrome

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation

Optic Neuritis Associated With Tumor Necrosis Factor-Alpha Inhibitor Certolizumab

Bilateral Synergistic Convergence Associated with Homozygous ROB03 Mutation (p.Pro771Leu)

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1

Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa

Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review

Biallelic mutations in human DCC cause developmental split-brain syndrome

Congenital cranial dysinnervation disorders: a concept in evolution

Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities

Mitochondrial Abnormalities in Patients with LHON-like Optic Neuropathies

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Use of En Face Optical Coherence Tomography to Monitor Papilledema in Idiopathic Intracranial Hypertension: A Pilot Study

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Visual and neurologic sequelae of methanol poisoning in Saudi Arabia

Cupping of the optic disk after methanol poisoning

Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders

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