Associated Papers
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 2023
37767697 (PubMed )
Supplement: hcg-16-452-s001.pdf
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
Zhang Q et al.
Frontiers in Genetics, 2022
Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.
Bettini S et al.
Diagnostics (basel, Switzerland), 2021
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
Dassie F et al.
American Journal of Medical Genetics. Part A, 2021
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 2020
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
Alström syndrome: cardiac magnetic resonance findings.
Corbetti F et al.
International Journal of Cardiology, 2013
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