Results 81 to 90 of about 1,602 (139)

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Additional file 1: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of the results of the WGS statistics in the family. (PDF 12Â kb)
Yang, Lin, Li, Zixiu, Mei, Mei, Fan, Xiaomei, Zhan, Guodong, Wang, Huijun, Huang, Guoying, Wang, Mingbang, Tian, Weidong, Zhou, Wenhao   +9 more
openaire   +1 more source

Additional file 4: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 16 kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Additional file 2: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification in the family. (DOCX 16Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Additional file 5: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 15 kb)
Yang, Lin, Li, Zixiu, Mei, Mei, Fan, Xiaomei, Zhan, Guodong, Wang, Huijun, Huang, Guoying, Wang, Mingbang, Tian, Weidong, Zhou, Wenhao   +9 more
openaire   +1 more source

Additional file 3: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification in the family. (DOCX 16 kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Alström syndrome—wide clinical variability within the same variant: a case report and literature review

Frontiers in Pediatrics
BackgroundAlström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal ...
Diana Jecan-Toader, Diana Jecan-Toader, Adrian Trifa, Adrian Trifa, Adrian Trifa, Bogdan Lucian, Tudor Lucian Pop, Tudor Lucian Pop, Simona Sorana Cainap, Simona Sorana Cainap   +9 more
doaj   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells

Genes
Background/Objectives: Human induced pluripotent stem cell (hiPSC) models provide a unique platform for testing the effect of genomic variants identified in patients with inherited diseases. In Alström syndrome, a rare multisystem disorder mainly caused by nonsense mutations in the ALMS1 gene, patients often present with infantile cardiomyopathy ...
Dargar, Tanushri, Janin, Alexandre, Risson, Valérie, Lafont, Estèle, Valla, Camille, Gache, Vincent, Abitbol, Marie   +6 more
openaire   +3 more sources

Testing for Endothelial Dysfunction in Children with Rare Genetic Variants of Obesity

Endocrines
Background: Endothelial dysfunction (ED), an early indicator of atherosclerosis, is a well-established predictor of cardiovascular disease. This study investigates ED in children with rare genetic variants linked to obesity and explores the prevalence of
Ilham Farhat, Vivian L. Chin
doaj   +1 more source