Is there an X-linked form of congenital cataracts?

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

American journal of human genetics·1998

A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

American journal of human genetics·1998

Wolfram (DIDMOAD) syndrome.

Journal of medical genetics·1997

Optic atrophy in Wolfram (DIDMOAD) syndrome.

Eye (London, England)·1997

ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa.

Eye (London, England)·1996

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

Lancet (London, England)·1995

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Beyond Neovascularization: Light Response Deficits in Oxygen-Induced Retinopathy Models.

Investigative ophthalmology & visual science·2026

The gut-retina axis in diabetic retinopathy: a new paradigm for pathogenesis and therapeutic intervention.

Frontiers in immunology·2026

Bionic vision technologies: progress and perspectives on retinal prostheses and optogenetics for the treatment of advanced retinal degeneration.

Frontiers in medical technology·2026

Widefield optical coherence tomography angiography of fellow eyes in patients with Coats Disease.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Longitudinal hemifield-specific macular ganglion cell complex thinning and its association with arterial stiffness in eyes without baseline glaucomatous abnormalities.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Linking increased anterior scleral thickness, pachychoroid, and macular microvascular changes in chronic central serous chorioretinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Related Experiment Videos

Is there an X-linked form of congenital cataracts?

Related Concept Videos

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Wolfram (DIDMOAD) syndrome.

Optic atrophy in Wolfram (DIDMOAD) syndrome.

ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa.

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Beyond Neovascularization: Light Response Deficits in Oxygen-Induced Retinopathy Models.

The gut-retina axis in diabetic retinopathy: a new paradigm for pathogenesis and therapeutic intervention.

Bionic vision technologies: progress and perspectives on retinal prostheses and optogenetics for the treatment of advanced retinal degeneration.

Widefield optical coherence tomography angiography of fellow eyes in patients with Coats Disease.

Longitudinal hemifield-specific macular ganglion cell complex thinning and its association with arterial stiffness in eyes without baseline glaucomatous abnormalities.

Linking increased anterior scleral thickness, pachychoroid, and macular microvascular changes in chronic central serous chorioretinopathy.

Related Experiment Videos

Is there an X-linked form of congenital cataracts?

Related Concept Videos

Related Articles