[HTML][HTML] Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy

S Imani, J Cheng, MD Shasaltaneh, C Wei, L Yang… - Oncotarget, 2018 - ncbi.nlm.nih.gov
Abstract Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically
heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used …

[HTML][HTML] Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a …

L Zhang, J Cheng, QI Zhou, MA Khan, J Fu… - Frontiers in …, 2020 - frontiersin.org
Usher syndrome includes a group of genetically and clinically heterogeneous autosomal
recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss. Usher …

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with …

J Huang, J Fu, S Fu, L Yang, K Nie, C Duan… - British Journal of …, 2019 - bjo.bmj.com
Background/Aim Gyrate atrophy of the choroid and retina (GACR) is an extremely rare
autosomal recessive inherited disorder characterised by progressive vision loss. To identify …

[HTML][HTML] Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation …

Q Zhou, J Cheng, W Yang, M Tania, H Wang… - BioMed Research …, 2015 - hindawi.com
Background. Retinitis pigmentosa (RP) is an inherited retinal degenerative disease, which is
clinically and genetically heterogeneous, and the inheritance pattern is complex. In this …

[HTML][HTML] Novel compound heterozygous nonsense variants, p. L150* and p. Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome …

J Fu, J Cheng, Q Zhou, MA Khan… - Molecular …, 2020 - spandidos-publications.com
Usher syndrome refers to a group of genetically and clinically heterogeneous autosomal
recessive diseases with retinitis pigmentosa (RP) and hearing deficiencies. The association …

LESSONS FROM A CONSANGUINEOUS CHINESE FAMILY WITH GYRATE ATROPHY OF THE CHOROID AND RETINA STEMMING FROM A NOVEL OAT VARIANT

J HUANG, J FU, S FU, L YANG, K NIE… - Insights into Genetic …, 2024 - books.google.com
Gyrate atrophy of the choroid and retina (GACR) is an extremely rare autosomal recessive
inherited disorder characterized by progressive vision loss. To identify the disease-causing …