Ocular and genetic features of Cockayne's syndrome

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Human genetics·2001

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2000

Histopathology and molecular basis of iridogoniodysgenesis syndrome.

Ophthalmic genetics·1999

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.

Human genetics·1998

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Nature genetics·1998

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

American journal of human genetics·1998

Age, sex, and hormone therapy are associated with open-angle glaucoma: a case-only analysis in U.S. veterans.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026

Acute corneal hydrops treated with autologous stromal blood injection: in vivo confocal microscopy findings.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026

Binocular disturbances following glaucoma drainage device surgery.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026

Epidemiologic trends and outcomes of primary vitreoretinal lymphoma in the U.S., 2000-2021.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026

Improved prediction of nasal step defects in glaucoma through wide-field optical coherence tomography.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026

Efficacy and safety of bent ab interno needle goniotomy: a systematic review and meta-analysis.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

Pediatric dermatology·2026

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Frontiers in pediatrics·2026

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

European journal of human genetics : EJHG·2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Annals of medicine·2026

Familial short stature: genetic architecture, risk stratification, and precision management.

Frontiers in endocrinology·2026

Related Experiment Videos

Ocular and genetic features of Cockayne's syndrome

Related Concept Videos

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.

Histopathology and molecular basis of iridogoniodysgenesis syndrome.

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Age, sex, and hormone therapy are associated with open-angle glaucoma: a case-only analysis in U.S. veterans.

Acute corneal hydrops treated with autologous stromal blood injection: in vivo confocal microscopy findings.

Binocular disturbances following glaucoma drainage device surgery.

Epidemiologic trends and outcomes of primary vitreoretinal lymphoma in the U.S., 2000-2021.

Improved prediction of nasal step defects in glaucoma through wide-field optical coherence tomography.

Efficacy and safety of bent ab interno needle goniotomy: a systematic review and meta-analysis.

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Familial short stature: genetic architecture, risk stratification, and precision management.

Related Experiment Videos

Ocular and genetic features of Cockayne's syndrome

Related Concept Videos

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