Variability of iris defects in autosomal dominant aniridia

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

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

Systematic review and meta-analysis of the readability of large language models for patient education on ophthalmological conditions.

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

Ophthalmic needs of Indigenous adults experiencing homelessness and marginal housing: a serial cross-sectional analysis.

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

Barriers and challenges to accessing and utilizing low vision services among people with visual impairment in Canada: a systematic review.

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

Bisphosphonates and glaucoma: a pharmacovigilance signal detection analysis using the FAERS database.

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

Preventing Participant Leakage in Reissued Clinical AI Benchmarks: A Biomedical Informatics Evaluation Protocol and DAIC-WOZ/E-DAIC Audit.

Methods of information in medicine·2026

AI agents can coordinate via majority-following beyond human scale.

Science advances·2026

Academic Medical Centers Partner with Industry for Co-Development of Clinical AI.

Journal of medical Internet research·2026

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AI Agents and the Future of Clinical Judgment in Medical Education: Opportunities, Challenges, and the Need for Human-Centered Integration.

Health science reports·2026

Data-Driven Adaptive Iterative Learning Control for Consensus Tracking of Multiagent Systems Subject to Hybrid Cyber Attacks.

IEEE transactions on cybernetics·2026

Related Experiment Videos

Variability of iris defects in autosomal dominant aniridia

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.

Is extensive macular atrophy with pseudodrusen a variant of age-related macular degeneration? New insights from the first multiethnic, multicentreU.S. cohort.

RPE microrips within pigment epithelial detachments colocalise with focal leakage in acute central serous chorioretinopathy: pathophysiology and therapeutic implications.

Systematic review and meta-analysis of the readability of large language models for patient education on ophthalmological conditions.

Ophthalmic needs of Indigenous adults experiencing homelessness and marginal housing: a serial cross-sectional analysis.

Barriers and challenges to accessing and utilizing low vision services among people with visual impairment in Canada: a systematic review.

Bisphosphonates and glaucoma: a pharmacovigilance signal detection analysis using the FAERS database.

Preventing Participant Leakage in Reissued Clinical AI Benchmarks: A Biomedical Informatics Evaluation Protocol and DAIC-WOZ/E-DAIC Audit.

AI agents can coordinate via majority-following beyond human scale.

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Variability of iris defects in autosomal dominant aniridia

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