Results 161 to 170 of about 1,999 (178)

Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

Ophthalmic Genetics, 2018
Dear Editor,Alstrom syndrome (ALMS; MIM# 203800) is characterized by early onset cone-rod dystrophy (CRD), sensorineural hearing loss, obesity, cardiomyopathy, pulmonary disease, hepatic disease, r...
Alanoud Aldrees, Ehab Abdelkader, Hussain Al-Habboubi, Huda Alrwebah, Zuhair Rahbeeni, Patrik Schatz   +5 more
openaire   +2 more sources

[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for 7 patients with Alström syndrome.DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis.Genetic testing revealed 12 variants of the ALMS1 gene among the 7 ...
Yu, Ding, Qianwen, Zhang, Yingzhong, He, Lei, Zhang, Niu, Li, Guoying, Chang, Yao, Chen, Jian, Wang, Jinjin, Wu, Lijun, Fu, Xiumin, Wang   +10 more
openaire   +1 more source

Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant

Journal of American Association for Pediatric Ophthalmology and Strabismus
We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome.
Rita Rodrigues, R. Santos Silva, Susana Penas, Ana Moleiro, S. Estrela Silva, Olinda Faria, Augusto Magalhães   +6 more
openaire   +2 more sources

Five novel ALMS1 gene mutations in six patients with Alström syndrome

Journal of Pediatric Endocrinology and Metabolism, 2018
Abstract Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström ...
Suna, Kılınç, Didem, Yücel-Yılmaz, Aylin, Ardagil, Süheyla, Apaydın, Diana, Valverde, Rıza Köksal, Özgül, Ayla, Güven   +6 more
openaire   +2 more sources

Pdgfr[alpha]-driven Alms1 deletion in mice recapitulates the obesity and insulin resistance of Alms1 global knockout

Endocrine Abstracts, 2022
Eleanor McKay, Ineke Luijten, Dominique McCormick, Adrian Thomson, Gillian Gray, Robert Semple   +5 more
openaire   +1 more source

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

Nature Genetics, 2002
Alström syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic hyperglycemia and neurosensory deficits. The gene involved in Alström syndrome probably interacts with genetic modifiers, as subsets of affected individuals present with additional features such as dilated ...
Collin, G B, Marshall, J D, Ikeda, A, So, W V, Russell, Eggitt I, Maffei, P, Beck, S, Boerkoel, C F, Sicolo, N, Martin, M, Nishina, P M, Naggert, J K   +11 more
openaire   +2 more sources

Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome

Ophthalmic Genetics, 2022
Lijuan Huang, Maosheng Guo, Yunyu Zhou, Tianwei Liang, Ningdong Li   +4 more
openaire   +2 more sources

Gene symbol: ALMS1.

Human genetics, 2007
K J, Flintoff, Daniela, Pilz
openaire   +3 more sources

Alström Syndrome: Mutation Spectrum ofALMS1

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

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

Diabetologia, 2006
T M Frayling, Mark I Mccarthy, Andrew T Hattersley   +2 more
exaly