Associated Papers
Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.
Peng H et al.
Diabetology & Metabolic Syndrome, 2025
Generation of prostate cancer assembloids modeling the patient-specific tumor microenvironment.
Lee J et al.
Plos Genetics, 2025
40163511 (PubMed )
Supplement: pgen.1011652.s005.xlsx › tumor_tissue_somatic_variants
Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.
Bea-Mascato B et al.
Journal of Medical Genetics, 2023
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
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
Zhang Q et al.
Frontiers in Genetics, 2022
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.
Saadah OI et al.
Frontiers in Pediatrics, 2021
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.
Kamal NM et al.
Saudi Journal of Biological Sciences, 2020
Genetic evaluation of patients with Alström syndrome in the Polish population.
Zmyslowska A et al.
Clinical Genetics, 2016
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ozantürk A et al.
Journal of Human Genetics, 2015
Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.
Bahmad F et al.
Brazilian Journal of Otorhinolaryngology, 2014
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