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Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acidUpdate of Diagnostic Evaluation of Craniosynostosis with a Focus on Pediatric Systematic Evaluation and Genetic StudiesGenetic Syndromes Associated with CraniosynostosisA Genetic-Pathophysiological Framework for CraniosynostosisFibroblast growth factor signaling in skeletal development and diseaseCraniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant miceMorphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on 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.Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Mechanical properties of calvarial bones in a mouse model for craniosynostosis.Brain and ventricular volume in patients with syndromic and complex craniosynostosis.Effects of Citalopram on Sutural and Calvarial Cell Processes.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Frontal Bone Insufficiency in Gsk3β Mutant Mice.Health-related problems and quality of life in patients with syndromic and complex craniosynostosis.Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patientBone cell interactions through Eph/ephrin: bone modeling, remodeling and associated diseases.Molecular mechanisms of midfacial developmental defects.The genetics of canine skull shape variation.Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient miceA combined series of Fgf9 and Fgf18 mutant alleles identifies unique and redundant roles in skeletal development.Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis.EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.Diagnostic value of exome and whole genome sequencing in craniosynostosis.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.Models of cranial suture biology.Hand in glove: brain and skull in development and dysmorphogenesis.Craniosynostosis: imaging review and primer on computed tomography.A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
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P2860
description
im April 2011 veröffentlichter wissenschaftlicher Artikel
@de
наукова стаття, опублікована у квітні 2011
@uk
name
Craniosynostosis
@en
type
label
Craniosynostosis
@en
prefLabel
Craniosynostosis
@en
P2860
P356
P1476
Craniosynostosis
@en
P2093
David Johnson
P2860
P2888
P304
P356
10.1038/EJHG.2010.235
P407
P577
2011-04-01T00:00:00Z