Condition: Alstrom Syndrome


rs1034630858 in ALMS1 gene and Alstrom Syndrome PMID 11941370 2002 Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

PMID 17594715 2007 Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

PMID 11941369 2002 Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

PMID 22876109 2012 Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 25846608 2015 Alström Syndrome: Mutation Spectrum of ALMS1.

PMID 26992781 2016 Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 26010121 2016 ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

PMID 24462884 2014 Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome.

PMID 26104972 2015 Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.

PMID 16720663 2006 Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

PMID 28432734 2017 Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

PMID 26283575 2016 Genetic evaluation of patients with Alström syndrome in the Polish population.

PMID 27665122 2018 Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

PMID 18038714 2007 Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome.

PMID 15689433 2005 The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

PMID 22447358 2013 Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

PMID 25706677 2015 Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

PMID 25296579 2015 The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.