Associated Papers
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Bauwens M et al.
Clinical Genetics, 2025
Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?
Wiśniewska K et al.
Diagnostics (basel, Switzerland), 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM et al.
Human Genetics, 2022
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.
Fowler NH et al.
Ophthalmic Genetics, 2021
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Peter VG et al.
Human Mutation, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.
Abad-Morales V et al.
American Journal of Ophthalmology Case Reports, 2020
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Khateb S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A et al.
Investigative Ophthalmology & Visual Science, 2018
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E et al.
Ear and Hearing, 0
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