Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications. - Wikidata - awgldk - TriplyDB

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

http://www.wikidata.org/entity/Q38032764

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Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.The suture provides a niche for mesenchymal stem cells of craniofacial bones.Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine.Craniosynostosis: molecular pathways and future pharmacologic therapy.Neurodevelopmental outcomes in infants and children with single-suture craniosynostosis: a systematic review.Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.Computer-assisted shape descriptors for skull morphology in craniosynostosis.BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.Genetic advances in craniosynostosis.The foramen magnum in isolated and syndromic brachycephaly.Overactive autophagy is a pathological mechanism underlying premature suture ossification in nonsyndromic craniosynostosis.Globularization and Domestication

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Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

http://www.wikidata.org/entity/Q38032764

description

article científic

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Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

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Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

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Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

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Child's Nervous System

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Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

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Camilla Bernardini

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Concezio Di Rocco

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Fabrizio Michetti

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Gianpiero Tamburrini

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Nenad Bukvic

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Wanda Lattanzi

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IGF1R variants associated with isolated single suture craniosynostosis

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

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Recurrent lambdoid synostosis within two families.

Evaluation and management of nonsyndromic craniosynostosis.

An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

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The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding.

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1301-1310

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10.1007/S00381-012-1781-1

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9

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28

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2012-08-08T00:00:00Z

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22872241

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