Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. - Wikidata - awgldk - TriplyDB

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

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Update of Diagnostic Evaluation of Craniosynostosis with a Focus on Pediatric Systematic Evaluation and Genetic Studies A Genetic-Pathophysiological Framework for Craniosynostosis Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior Pin1-mediated Runx2 modification is critical for skeletal development Runx2 is required for early stages of endochondral bone formation but delays final stages of bone repair in Axin2-deficient mice.Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Computational Reconstruction of NFκB Pathway Interaction Mechanisms during Prostate Cancer.Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis.Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation.Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.Understanding craniosynostosis as a growth disorder Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification.Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Craniosynostosis: molecular pathways and future pharmacologic therapy.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Partial 1q Duplications and Associated Phenotype.Phenotypes of CCAAT/enhancer-binding protein beta deficiency: hyperdontia and elongated coronoid process.Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis.Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.Genetic advances in craniosynostosis.Patients with isolated oligo/hypodontia caused by RUNX2 duplication.Overactive autophagy is a pathological mechanism underlying premature suture ossification in nonsyndromic craniosynostosis.Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation Pure de novo partial trisomy 6p in a girl with craniosynostosis A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis

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Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

http://www.wikidata.org/entity/Q52602627

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2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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2010年學術文章

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name

Copy number variation analysis ...... with metopic craniosynostosis.

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Copy number variation analysis ...... with metopic craniosynostosis.

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type

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Copy number variation analysis ...... with metopic craniosynostosis.

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Copy number variation analysis ...... with metopic craniosynostosis.

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Copy number variation analysis ...... with metopic craniosynostosis.

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Copy number variation analysis ...... with metopic craniosynostosis.

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American Journal of Medical Genetics

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Copy number variation analysis ...... with metopic craniosynostosis.

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Anne V Hing

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Evan E Eichler

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Heather C Mefford

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Jesse M Tsai

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Mark J Rieder

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Matthew D Smyth

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Matthew L Speltz

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Michael L Cunningham

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Neil Shafer

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Sarah S Park

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P2860

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

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

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

Detection of large-scale variation in the human genome

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome

Regulatory controls for osteoblast growth and differentiation: role of Runx/Cbfa/AML factors

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

A twist code determines the onset of osteoblast differentiation

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Unsupervised segmentation of continuous genomic data.

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2203-2210

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10.1002/AJMG.A.33557

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9

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152A

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Francesca Antonacci

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45495324

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20683987

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craniosynostosis

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3104131

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