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[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, 2021To 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 ...
Yao Chen +10 more
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Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene
Ophthalmic Genetics, 2018Dear 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...
Huda Al-Rwebah +6 more
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A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
Journal of Pediatric Endocrinology and Metabolism, 2016AbstractAlström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were
Caley Laxer +6 more
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Five novel ALMS1 gene mutations in six patients with Alström syndrome
Journal of Pediatric Endocrinology and Metabolism, 2018Abstract 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 ...
Rıza Köksal Özgül +6 more
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Gene, 2020
Alström syndrome (AS) is a rare monogenic multi-system ciliopathy disorder with cardinal features, including cone-rod dystrophy, sensory neural hearing loss, metabolic dysfunctions and multiple organ failure caused by bi-allelic mutations in a centrosomal basal body protein-coding gene known as ALMS1.
Shahram Torkamandi +5 more
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Alström syndrome (AS) is a rare monogenic multi-system ciliopathy disorder with cardinal features, including cone-rod dystrophy, sensory neural hearing loss, metabolic dysfunctions and multiple organ failure caused by bi-allelic mutations in a centrosomal basal body protein-coding gene known as ALMS1.
Shahram Torkamandi +5 more
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European Journal of Medical Genetics, 2014
Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically.Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype ...
Yaojuan Jia +8 more
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Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically.Linkage analysis combined with exome sequencing identified a homozygous deleterious mutation in the ALMS1 gene as the cause of this phenotype ...
Yaojuan Jia +8 more
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Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
Ophthalmic Genetics, 2022Lijuan Huang +4 more
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