Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Alstrom's Syndrome: An Experience of Tertiary Care Center.
Gosadi G et al.
Journal of Pediatric Genetics, 2024
Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.
Alamri AS et al.
Cureus, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM6_ESM.xlsx › Sheet1
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
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
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.
Chakroun A et al.
European Journal of Medical Genetics, 2016
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.
Sanyoura M et al.
European Journal of Human Genetics : Ejhg, 2014
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.
Aldahmesh MA et al.
American Journal of Medical Genetics. Part A, 2009
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