The X chromosome and the eye. The implications of recent microbiological models for clinical ophthalmology

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Ophthalmic genetics·2002

Visual impairment in adult people with intellectual disability: literature review.

Journal of intellectual disability research : JIDR·2001

Visual impairment in adult people with moderate, severe, and profound intellectual disability.

Acta ophthalmologica Scandinavica·2001

Zidovudine monotherapy versus zidovudine plus zalcitabine combination therapy in HIV-positive persons with CD4 cell counts 300-500 cells/mm3: a double-blind controlled trial. The M50003 Study Group Coordinating and Writing Committee.

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Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

Ophthalmic genetics·2000

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Human molecular genetics·1999

A frequentist test of proportional colocalization after selecting relevant genetic variants.

Human heredity·2026

Investigation of the Effects of Noncoding LDLR Variants on Hyperlipidaemia risk.

Human heredity·2026

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Human heredity·2026

Erratum.

Human heredity·2026

Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population.

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Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Human heredity·2025

Pre-Operative and Surgical Factors Influencing Outcomes of Vitrectomy for Myopic Foveoschisis.

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Metabolism: clinical and experimental·2026

[Treatment of Dry Eye Disease - Current recommendations according to DEWS III report].

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Ocular infections and stewardship practices for Ophthalmologists: The RED EYE AMSP model.

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Clinical profile and outcomes of posterior segment metallic intraocular foreign bodies following chisel-hammer injury managed with pars plana vitrectomy.

Indian journal of ophthalmology·2026

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The X chromosome and the eye. The implications of recent microbiological models for clinical ophthalmology

Related Concept Videos

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Visual impairment in adult people with intellectual disability: literature review.

Visual impairment in adult people with moderate, severe, and profound intellectual disability.

Zidovudine monotherapy versus zidovudine plus zalcitabine combination therapy in HIV-positive persons with CD4 cell counts 300-500 cells/mm3: a double-blind controlled trial. The M50003 Study Group Coordinating and Writing Committee.

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

A frequentist test of proportional colocalization after selecting relevant genetic variants.

Investigation of the Effects of Noncoding LDLR Variants on Hyperlipidaemia risk.

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Erratum.

Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population.

Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Pre-Operative and Surgical Factors Influencing Outcomes of Vitrectomy for Myopic Foveoschisis.

Efficacy and Safety of Relfovetmab Administered Every Three Months for the Treatment of Pain Associated with Osteoarthritis in Client-Owned Cats.

Association of severe liver disease and diabetic retinopathy, retinal imaging phenotypes, and plasma metabolic signatures: A UK biobank study.

[Treatment of Dry Eye Disease - Current recommendations according to DEWS III report].

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Clinical profile and outcomes of posterior segment metallic intraocular foreign bodies following chisel-hammer injury managed with pars plana vitrectomy.

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The X chromosome and the eye. The implications of recent microbiological models for clinical ophthalmology

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