Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. - Wikidata - awgldk - TriplyDB

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

http://www.wikidata.org/entity/Q36504775

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Genetic Syndromes Associated with Craniosynostosis A Genetic-Pathophysiological Framework for Craniosynostosis Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis Developmental and Evolutionary Significance of the Zygomatic Bone A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2.Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Phenotype profile of a genetic mouse model for Muenke syndrome.Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.Executive Function and Adaptive Behavior in Muenke Syndrome.Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice Further analysis of the Crouzon mouse: effects of the FGFR2(C342Y) mutation are cranial bone-dependent Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.Understanding craniosynostosis as a growth disorder Diagnostic value of exome and whole genome sequencing in craniosynostosis.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.Anterior plagiocephaly: epidemiology, clinical findings,diagnosis, and classification. A review.The role of vertebrate models in understanding craniosynostosis.The Fgfr2 W290R mouse model of Crouzon syndrome.Hand in glove: brain and skull in development and dysmorphogenesis.A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.Left-right asymmetry of the gnathostome skull: its evolutionary, developmental, and functional aspects.Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis

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David Johnson

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Jane A Hurst

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Jayaratnam Jayamohan

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Jo C Byren

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Peter G Richards

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Steven A Wall

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Tracy Lester

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P2860

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Molecular diagnosis of bilateral coronal synostosis

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

An unusual form of familial acrocephalosyndactyly.

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

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10.1542/PEDS.2009-3491

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Andrew Oliver Mungo Wilkie

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craniosynostosis

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