Results 121 to 130 of about 615 (141)
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Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome
Human Mutation, 2007Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, and pulmonary, hepatic, and renal failure. We evaluated a large
MARSHALL JD +16 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
Demirbilek, HÜSEYİN +6 more
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Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant
Journal of American Association for Pediatric Ophthalmology and StrabismusWe 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 +6 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...
Alanoud Aldrees +5 more
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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 ...
Yu, Ding +10 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 ...
ÖZGÜL, RIZA KÖKSAL +6 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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