Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. - Wikidata - awgldk - TriplyDB

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

http://www.wikidata.org/entity/Q50456932

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Alstrom syndrome (OMIM 203800): a case report and literature review Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway New loci associated with kidney function and chronic kidney disease Structural Variation of Alu Element and Human Disease Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.Brain involvement in Alström syndrome.The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.Nephronophthisis.Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Alström syndrome--an uncommon cause of early childhood retinal dystrophy Clinical utility gene card for: Alström syndrome.Coronary artery disease in Alström syndrome Novel Alu retrotransposon insertion leading to Alström syndrome Alström Syndrome: Mutation Spectrum of ALMS1.Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Histopathology of the human inner ear in Alström's syndrome Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.Alström syndrome: cardiac magnetic resonance findings.Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series.Novel ALMS1 mutations in Chinese patients with Alström syndrome.Clinical utility gene card for: Alström Syndrome - update 2013.Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Clinical screening and genetic testing.Genetic diseases that predispose to early liver cirrhosis.Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.Mutations in Alström protein impair terminal differentiation of cardiomyocytes Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.Genetic Factors of Diabetes.Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

http://www.wikidata.org/entity/Q50456932

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2007 nî lūn-bûn

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Spectrum of ALMS1 variants and ...... relations in Alström syndrome.

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Spectrum of ALMS1 variants and ...... relations in Alström syndrome.

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Spectrum of ALMS1 variants and ...... relations in Alström syndrome.

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Spectrum of ALMS1 variants and ...... relations in Alström syndrome.

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Spectrum of ALMS1 variants and ...... relations in Alström syndrome.

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Spectrum of ALMS1 variants and ...... relations in Alström syndrome.

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Caterina Veronese

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David I Wilson

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Elizabeth G Hinman

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Gabriella Milan

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Gayle B Collin

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Jan D Marshall

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Jürgen K Naggert

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Mitchell Martin

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Patsy M Nishina

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Pietro Maffei

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1114-1123

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scholarly article

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10.1002/HUMU.20577

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11

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28

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