Results 141 to 146 of about 2,695 (146)

Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings

European Journal of Medical Genetics, 2014
Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically.Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype ...
Yaojuan Jia, Koenraad Devriendt, Derize Boshoff, Hilde Peeters, S Iqbal, Marc Gewillig, Anniek Corveleyn, Jacoba Louw, Philippe Moerman   +8 more
openaire   +3 more sources

Pdgfr[alpha]-driven Alms1 deletion in mice recapitulates the obesity and insulin resistance of Alms1 global knockout

Endocrine Abstracts, 2022
Eleanor McKay, Ineke Luijten, Dominique McCormick, Adrian Thomson, Gillian Gray, Robert Semple   +5 more
openaire   +1 more source

Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome

Ophthalmic Genetics, 2022
Lijuan Huang, Maosheng Guo, Yunyu Zhou, Tianwei Liang, Ningdong Li   +4 more
openaire   +2 more sources

ALMS1

2018
Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera   +6 more
openaire   +1 more source

Gene symbol: ALMS1.

Human genetics, 2007
K J, Flintoff, Daniela, Pilz
openaire   +3 more sources

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clinical Genetics, 2004
TITOMANLIO, LUIGI, DE BRASI, DANIELE, BUONINCONTI A, SPERANDEO MP, PEPE A, ANDRIA, GENEROSO, SEBASTIO, GIANFRANCO   +6 more
openaire   +4 more sources