|
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 |
Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene.
|
31755649 |
2020 |
|
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.
|
31220269 |
2019 |
|
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 |
Biomarker
|
disease |
BEFREE |
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
|
30421101 |
2019 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1.
|
31810438 |
2019 |
|
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 |
BEFREE |
Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1.
|
29718281 |
2018 |
|
Alstrom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.
|
27665122 |
2018 |
|
Alstrom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
|
29079548 |
2018 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by a mutation in the ALMS1 gene and characterised by childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes and extreme insulin resistance.
|
30477455 |
2018 |
|
Alstrom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
|
28432734 |
2017 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service.
|
28717663 |
2017 |
|
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 |
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 |
Biomarker
|
disease |
MGD |
Mouse models of human ocular disease for translational research.
|
28859131 |
2017 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder.
|
28135309 |
2017 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene.
|
28573831 |
2017 |
|
Alstrom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
|
26992781 |
2016 |
|
Alstrom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.
|
26010121 |
2016 |
|
Alstrom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic evaluation of patients with Alström syndrome in the Polish population.
|
26283575 |
2016 |
|
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.
|
27523285 |
2016 |
|
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our work identifies a novel mutation in ALMS1 gene responsible for the complex phenotype of AS in these patients.
|
26910739 |
2016 |