|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström Syndrome (ALMS) is an extremely rare multiorgan disease caused by mutations in ALMS1.
|
22498418 |
2013 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene.
|
22447358 |
2013 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to further define the spectrum of ALMS1 mutations in patients with clinical features of ALMS.
|
25846608 |
2015 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene.
|
28407410 |
2017 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Overall, due to the large size of the ALMS1 gene and clinical similarity with other ciliopathies and genetic disorders, whole exome sequencing can be useful for the identification of pathogenic mutations and the improvement of AS clinical management.
|
31669637 |
2020 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
|
16720663 |
2006 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
|
24319333 |
2013 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene.
|
31755649 |
2020 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.
|
26104972 |
2015 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations.
|
28402684 |
2017 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five novel ALMS1 gene mutations in six patients with Alström syndrome.
|
29715191 |
2018 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This strategy would still not suffice for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively.
|
29292161 |
2018 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
|
26047050 |
2015 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the spectrum of ALMS1 mutations causing Alström syndrome.
|
22876109 |
2012 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
|
17594715 |
2007 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies.
|
25296579 |
2015 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Alström Syndrome: Mutation Spectrum of ALMS1.
|
25846608 |
2015 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We reported a novel ALMS1 mutation.Whole genome sequencing is a powerful tool to provide the full spectrum of genetic variations for heterogeneous disorders such as Alström syndrome.
|
28724398 |
2017 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ALMS1 and DYSF are genetically and physically linked on chromosome 2 in a genomic region suggested by HM and associated with Alström syndrome, which includes CRD, and with limb girdle muscular dystrophy, respectively.
|
26077327 |
2015 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (ALMS1, MIM 203800) is a rare, autosomal recessively inherited monogenic condition caused by mutations in the ALMS1 gene located on the short arm of chromosome 2.
|
19440062 |
2009 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.
|
18154657 |
2007 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present case, targeted genetic analysis of a child with a syndromic cone-rod dystrophy yielded a novel splicing mutation in ALMS1 causing Alstrom syndrome.
|
30600744 |
2019 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human gene ALMS1 cause Alström syndrome, a rare progressive condition characterized by neurosensory degeneration and metabolic defects.
|
20844083 |
2010 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
|
17594715 |
2007 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
|
22773737 |
2012 |