Associated Papers
Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.
Al-Humadi AW et al.
Journal of Clinical Medicine, 2023
Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.
Ye Y et al.
The Journal of International Medical Research, 2023
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
Alström syndrome with a novel mutation of ALMS1 and Graves' hyperthyroidism: A case report and review of the literature.
Zhang JJ et al.
World Journal of Clinical Cases, 2021
Consensus clinical management guidelines for Alström syndrome.
Tahani N et al.
Orphanet Journal of Rare Diseases, 2020
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
Waldman M et al.
Molecular Genetics and Metabolism, 2018
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
Han JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
Brofferio A et al.
Molecular Genetics and Metabolism, 2017
Clinical utility gene card for: Alström Syndrome - update 2013.
Marshall JD et al.
European Journal of Human Genetics : Ejhg, 2013
Clinical utility gene card for: Alström syndrome.
Marshall JD et al.
European Journal of Human Genetics : Ejhg, 2011
Alström syndrome: genetics and clinical overview.
Marshall JD et al.
Current Genomics, 2011
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I et al.
European Journal of Human Genetics : Ejhg, 2011
Alström syndrome: insights into the pathogenesis of metabolic disorders.
Girard D et al.
Nature Reviews. Endocrinology, 2011
Alstrom syndrome (OMIM 203800): a case report and literature review.
Joy T et al.
Orphanet Journal of Rare Diseases, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Marshall JD et al.
Human Mutation, 2007
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
Minton JA et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
Titomanlio L et al.
Clinical Genetics, 2004
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Collin GB et al.
Nature Genetics, 2002
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
Hearn T et al.
Nature Genetics, 2002