Results 161 to 168 of about 1,783 (168)

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

Acta Ophthalmologica, 2018
Fadi Nasser, Nicole Weißschuh, Pietro Maffei   +2 more
exaly  

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

Genetic Testing and Molecular Biomarkers, 2017
Marisa Cruz-Aguilar, CARLOS Galaviz-Hernández, Martha Sosa-Macias   +2 more
exaly  

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

Molecular Biology and Evolution, 2009
Laura B Scheinfeldt, Shameek Biswas, Jennifer Madeoy   +2 more
exaly  

Alström Syndrome: Mutation Spectrum ofALMS1

Human Mutation, 2015
Jan D Marshall, Jean Müller, Gabriella Milan   +2 more
exaly  

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Nature Genetics, 2002
Jan D Marshall, Akihiro Ikeda, W Venus So   +2 more
exaly  

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
Youssef A Alqahtani, Naglaa M Kamal
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