IGF1R variants associated with isolated single suture craniosynostosis - Wikidata - wikimedia - TriplyDB

IGF1R variants associated with isolated single suture craniosynostosis

IGF1R variants associated with isolated single suture craniosynostosis

http://www.wikidata.org/entity/Q24594463

about

Disease risk of missense mutations using structural inference from predicted function Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis Intellectual and academic functioning of school-age children with single-suture craniosynostosis.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.MinorityReport, software for generalized analysis of causal genetic variants Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation.Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Visuomotor Function in School-Age Children with Single-Suture Craniosynostosis.Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Craniosynostosis: molecular pathways and future pharmacologic therapy.Attention and executive function in children with and without single-suture craniosynostosis.Genetic advances in craniosynostosis.Overactive autophagy is a pathological mechanism underlying premature suture ossification in nonsyndromic craniosynostosis.Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

P2860

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P2860

IGF1R variants associated with isolated single suture craniosynostosis

http://www.wikidata.org/entity/Q24594463

description

2011 nî lūn-bûn

@nan

2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

IGF1R variants associated with isolated single suture craniosynostosis

@ast

IGF1R variants associated with isolated single suture craniosynostosis

@en

IGF1R variants associated with isolated single suture craniosynostosis

@nl

type

label

IGF1R variants associated with isolated single suture craniosynostosis

@ast

IGF1R variants associated with isolated single suture craniosynostosis

@en

IGF1R variants associated with isolated single suture craniosynostosis

@nl

prefLabel

IGF1R variants associated with isolated single suture craniosynostosis

@ast

IGF1R variants associated with isolated single suture craniosynostosis

@en

IGF1R variants associated with isolated single suture craniosynostosis

@nl

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American Journal of Medical Genetics Part A

P1476

IGF1R variants associated with isolated single suture craniosynostosis

@en

P2093

Anne V Hing

http://www.w3.org/2001/XMLSchema#string

Ian B Stanaway

http://www.w3.org/2001/XMLSchema#string

Jeremy A Horst

http://www.w3.org/2001/XMLSchema#string

Mark J Rieder

http://www.w3.org/2001/XMLSchema#string

Matthew L Speltz

http://www.w3.org/2001/XMLSchema#string

Michael L Cunningham

http://www.w3.org/2001/XMLSchema#string

Ram Samudrala

http://www.w3.org/2001/XMLSchema#string

Sarah S Park

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

The Protein Data Bank

Improved prediction of protein side-chain conformations with SCWRL4

Crystal structure of the first three domains of the type-1 insulin-like growth factor receptor

Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome

Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

Tgf-beta1, Tgf-beta2, Tgf-beta3 and Msx2 expression is elevated during frontonasal suture morphogenesis and during active postnatal facial growth

An all-atom distance-dependent conditional probability discriminatory function for protein structure prediction.

Identification of IGF-I in the calvarial suture of young rats: histochemical analysis of the cranial sagittal sutures in a hyperthyroid rat model.

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91-7

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scholarly article

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10.1002/AJMG.A.33781

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1

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2011-01-01T00:00:00Z

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49726921

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21204214

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craniosynostosis

P932

3059230

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