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Last Updated: 03/06/2025
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Found 45 publications
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.
Journal: Ophthalmic genetics
Published: July 03, 2024
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.
Journal: BMJ open ophthalmology
Published: May 30, 2021
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Journal: International journal of molecular sciences
Published: December 30, 2019
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.
Journal: Human mutation
Published: January 27, 2019
Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.
Journal: Ophthalmic genetics
Published: January 12, 2019
Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype".
Journal: Ophthalmic genetics
Published: January 12, 2019
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Journal: Clinical genetics
Published: November 19, 2018
Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy.
Journal: Ophthalmology. Retina
Published: May 19, 2018
Last Updated: 03/06/2025