Results 131 to 139 of about 1,602 (139)

A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico

Genetic Testing and Molecular Biomarkers, 2017
CARLOS Galaviz-Hernández, Juan CARLOS Zenteno   +1 more
exaly  

Alström Syndrome: Mutation Spectrum ofALMS1

Human Mutation, 2015
Stephen Kingsmore, Gabriella Milan, Pietro Maffei   +2 more
exaly  

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History

Molecular Biology and Evolution, 2009
Laura Scheinfeldt, Joshua Akey, Eric Schadt   +2 more
exaly  

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene

Acta Ophthalmologica, 2018
Gabriella Milan, Nicole Weißschuh, Pietro Maffei   +2 more
exaly  

REDUCTION OF ALMS1 GENE EXPRESSION OR INHIBITION OF ALTROM PROTEIN TO INDUCE CARDIOMYOCYTE PROLIFERATION

2014
JUDGE DANIEL PHILIP, ANDERSEN PETER, SHENJE LINCOLN TAKURA   +2 more
openaire   +2 more sources

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome

Eye, 2009
exaly  

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family

Molecular Genetics & Genomic Medicine
Kamal Nm
exaly  

Faculty Opinions recommendation of Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2002
openaire   +1 more source

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

Clinical Genetics, 2004
exaly