Related references
Note: Only part of the references are listed.Relative Adipose Tissue Failure in Alstrom Syndrome Drives Obesity-Induced Insulin Resistance
Tarekegn Geberhiwot et al.
DIABETES (2021)
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alstrom syndrome
Francesca Dassie et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alstrom syndrome
Shahram Torkamandi et al.
GENE (2020)
A very early diagnosis of Alstrom syndrome by next generation sequencing
Leonardo Gatticchi et al.
BMC MEDICAL GENETICS (2020)
Consensus clinical management guidelines for Alstrom syndrome
Natascia Tahani et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
ALMS1 and Alstrom syndrome: a recessive form of metabolic, neurosensory and cardiac deficits
Tom Hearn
JOURNAL OF MOLECULAR MEDICINE-JMM (2019)
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene
Alanoud Aldrees et al.
OPHTHALMIC GENETICS (2019)
Five novel ALMS1 gene mutations in six patients with Alstrom syndrome
Suna Kilinc et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2018)
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene
Fadi Nasser et al.
ACTA OPHTHALMOLOGICA (2018)
Motile and non-motile cilia in human pathology: from function to phenotypes
Hannah M. Mitchison et al.
JOURNAL OF PATHOLOGY (2017)
A Nonsense ALMS1 Mutation Underlies Alstrom Syndrome in an Extended Mennonite Kindred Settled in North Mexico
Marisa Cruz-Aguilar et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2017)
The Cilium: Cellular Antenna and Central Processing Unit
Jarema J. Malicki et al.
TRENDS IN CELL BIOLOGY (2017)
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy
Y. Xu et al.
CLINICAL GENETICS (2016)
Alstrom Syndrome: Mutation Spectrum of ALMS1
Jan D. Marshall et al.
HUMAN MUTATION (2015)
Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alstrom Syndrome
Jamal Mahamid et al.
PEDIATRIC CARDIOLOGY (2013)
Alstrom Syndrome: Genetics and Clinical Overview
Jan D. Marshall et al.
CURRENT GENOMICS (2012)
The Alstrom Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway
Gayle B. Collin et al.
PLOS ONE (2012)
Alstrom syndrome (OMIM 203800): a case report and literature review
Tisha Joy et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome
Jan D. Marshall et al.
HUMAN MUTATION (2007)
Share Paper
