Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. - Wikidata - wikimedia - TriplyDB

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

http://www.wikidata.org/entity/Q34385594

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Genetic Syndromes Associated with Craniosynostosis Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome FGF receptors: cancer biology and therapeutics TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1 Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans Mutations in the human TWIST gene.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.The Fibroblast Growth Factor signaling pathway A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation.Twist1 controls a cell-specification switch governing cell fate decisions within the cardiac neural crest Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.Genetically altered mouse models: the good, the bad, and the ugly.The suture provides a niche for mesenchymal stem cells of craniofacial bones.Cytokine therapy for craniosynostosis.The therapeutic potential of stem cells in the treatment of craniofacial abnormalities.The epidemiology, genetics and future management of syndactyly.Syndromic craniosynostosis: from history to hydrogen bonds.Genetic analysis of non-syndromic craniosynostosis.Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.Understanding craniosynostosis as a growth disorder Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure Deciphering the molecular mechanisms underlying the binding of the TWIST1/E12 complex to regulatory E-box sequences.Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.Phosphorylation of basic helix-loop-helix transcription factor Twist in development and disease.Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Methyltransferase G9A Regulates Osteogenesis via Twist Gene Repression.Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development.BCL11B regulates sutural patency in the mouse craniofacial skeleton.Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.Craniofacial shape variation in Twist1+/- mutant mice.Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

http://www.wikidata.org/entity/Q34385594

description

1998 nî lūn-bûn

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1998 թուականի Յունիսին հրատարակուած գիտական յօդուած

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1998 թվականի հունիսին հրատարակված գիտական հոդված

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1998年の論文

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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type

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations

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Ethylin Wang Jabs

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