Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis - Wikidata - wikimedia - TriplyDB

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

http://www.wikidata.org/entity/Q28240167

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Genetics and pathogenesis of idiopathic scoliosis Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review CORR Insights ®: Are copy number variants associated with adolescent idiopathic scoliosis?Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.Predictors of spine deformity progression in adolescent idiopathic scoliosis: A systematic review with meta-analysis Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population.Scoliosis severity does not impact the risk of scoliosis in family members.Adolescent idiopathic scoliosis: evidence for intrinsic factors driving aetiology and progression.Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis.Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis.Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis.Etiological Theories of Adolescent Idiopathic Scoliosis: Past and Present.Genetic variant of BNC2 gene is functionally associated with adolescent idiopathic scoliosis in Chinese population.Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology A missense variant in SLC39A8 is associated with severe idiopathic scoliosis Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis

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P2860

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

http://www.wikidata.org/entity/Q28240167

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@ast

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@en

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@nl

type

label

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@ast

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@en

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@nl

prefLabel

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@ast

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@en

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@nl

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Human Molecular Genetics

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Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

@en

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Alan C Braverman

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Bobby Kin-Wah Ng

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Carlos Cruchaga

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Christina A Gurnett

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David M Alvarado

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Dorothy K Grange

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Jillian G Buchan

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Jose A Morcuende

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Marcia C Willing

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Matthew B Dobbs

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P2860

Finding the missing heritability of complex diseases

NIH Image to ImageJ: 25 years of image analysis

Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation

Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

The Sequence Alignment/Map format and SAMtools

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

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19

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Nelson Leung-Sang Tang

Jack Chun-Yiu Cheng

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262384628

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24833718

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adolescent idiopathic scoliosis

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4159151

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