The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
about
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human 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.The impact of CFNS-causing EFNB1 mutations on ephrin-B1 functionEphrin B1 regulates bone marrow stromal cell differentiation and bone formation by influencing TAZ transactivation via complex formation with NHERF1.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.Transgenic overexpression of ephrin b1 in bone cells promotes bone formation and an anabolic response to mechanical loading in mice.Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndromeA computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Molecular genetics of congenital diaphragmatic defects.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.Craniosynostosis genetics: The mystery unfolds.Detection of mosaicism for the polymorphic variants in the 5'-UTR of hOGG1 by cloning and sequence analysis and pyrosequencing.Use 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.A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.Additional EFNB1 mutations in craniofrontonasal syndrome.Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.CraniosynostosisExpanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
P2860
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P2860
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
description
2006 nî lūn-bûn
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2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
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name
The origin of EFNB1 mutations ...... f the paucity of carrier males
@ast
The origin of EFNB1 mutations ...... f the paucity of carrier males
@en
The origin of EFNB1 mutations ...... f the paucity of carrier males
@nl
type
label
The origin of EFNB1 mutations ...... f the paucity of carrier males
@ast
The origin of EFNB1 mutations ...... f the paucity of carrier males
@en
The origin of EFNB1 mutations ...... f the paucity of carrier males
@nl
prefLabel
The origin of EFNB1 mutations ...... f the paucity of carrier males
@ast
The origin of EFNB1 mutations ...... f the paucity of carrier males
@en
The origin of EFNB1 mutations ...... f the paucity of carrier males
@nl
P2093
P2860
P356
P1476
The origin of EFNB1 mutations ...... f the paucity of carrier males
@en
P2093
A Jeannette M Hoogeboom
Alexa M J Kidd
Elizabeth Sweeney
Han G Brunner
Indira B Taylor
Irene M J Mathijssen
Jenny E V Morton
John B Mulliken
Kazuya Matsumoto
Louise C Wilson
P2860
P304
P356
10.1086/504440
P407
P577
2006-06-01T00:00:00Z