Results 181 to 190 of about 5,408 (199)
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Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies
Acta Ophthalmologica, 2021Josephine Prener Holtan +2 more
exaly
[Pharmacotherapy of ABCA4-associated Retinal Dystrophies].
Klinische Monatsblatter fur AugenheilkundeABCA4-associated retinal dystrophies, including Stargardt's disease, comprise a heterogeneous group of inherited retinal diseases caused by mutations in the ABCA4 gene and are inherited in an autosomal recessive manner. These diseases cause vision loss due to progressive degeneration of photoreceptors and retinal pigment epithelium, for which there is ...
Maximilian, Gerhardt +2 more
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This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee. Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgenome.org/docs/terms-of-use/) which employs the CC0 1.0 Universal (CC0 1.0) Public Domain ...
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Allelic and phenotypic heterogeneity in ABCA4 mutations
Ophthalmic Genetics, 2011Stephen Tsang, Tomáš R Burke
exaly
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients
Human Mutation, 2014Bo Yuan, Rando Allikmets, Jana Zernant
exaly
Antisense Oligonucleotides Rescue Aberrant Splicing of ABCA4
2020COLLIN ROBERT WILHELMUS JOHANNA +2 more
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In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
Human Mutation, 2017Stéphanie S Cornelis, Carel B Hoyng
exaly
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
Graefe's Archive for Clinical and Experimental Ophthalmology, 2004Carel B Hoyng +2 more
exaly