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Alstrom syndrome (OMIM 203800): a case report and literature review

Alstrom syndrome (OMIM 203800): a case report and literature review

http://www.wikidata.org/entity/Q21202955

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New loci associated with kidney function and chronic kidney disease Alström syndrome: current perspectives The nonmotile ciliopathies.Combined occurrence of diabetes mellitus and retinitis pigmentosa.Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.Review and update on the molecular basis of Leber congenital amaurosis 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.Novel Alu retrotransposon insertion leading to Alström syndrome Alström Syndrome: Mutation Spectrum of ALMS1.Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.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 An Overview of Mouse Models of Nonalcoholic Steatohepatitis: From Past to Present.Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.Genetic evaluation of patients with Alström syndrome in the Polish population.Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.Alstrom syndrome: A rare genetic disorder and its anaesthetic significance.A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.Alström syndrome: genetics and clinical overview ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.Joubert syndrome presenting with young-age onset ischemic stroke: a possible etiologic association.Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

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Alstrom syndrome (OMIM 203800): a case report and literature review

http://www.wikidata.org/entity/Q21202955

description

2007 nî lūn-bûn

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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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Alstrom syndrome (OMIM 203800): a case report and literature review

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Orphanet Journal of Rare Diseases

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Alstrom syndrome (OMIM 203800): a case report and literature review

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Henian Cao

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Paul N Durrington

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Tisha Joy

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Creative Commons Attribution 2.0 Generic

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

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

Refsum disease, peroxisomes and phytanic acid oxidation: a review.

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.

Three new cases of Alström syndrome.

Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases.

Growth hormone deficiency in two siblings with Alström syndrome.

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hyperlipoproteinemia type IV

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