Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesGenetic Syndromes Associated with CraniosynostosisNew insights into the generation and role of de novo mutations in health and diseaseEpilepsy and mental retardation limited to females: an under-recognized disorderA subset of signal transduction pathways is required for hippocampal growth cone collapse induced by ephrin-A5.Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndromeClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Genetic aspects of human congenital diaphragmatic hernia.Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries.Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndromeIsolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 MutationBone cell interactions through Eph/ephrin: bone modeling, remodeling and associated diseases.A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome.EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.Dancing with the dead: Eph receptors and their kinase-null partners.JunB as a potential mediator of PTHrP actions: new gene targets Ephrin B1 and VCAM-1Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.CraniosynostosisCraniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation
P2860
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P2860
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@ast
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@en
type
label
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@ast
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@en
prefLabel
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@ast
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@en
P1476
Clinical and genetic aspects o ...... s resolving a genetic paradox.
@en
P2093
Ilse Wieland
Peter Wieacker
P304
P356
10.1016/J.YMGME.2005.07.017
P577
2005-09-01T00:00:00Z