Clinical findings in patients with GLI2 mutations--phenotypic variability.
about
Cis-regulatory control of human GLI2 expression in the developing neural tube and limb bud.Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.Determinants of orofacial clefting I: Effects of 5-Aza-2'-deoxycytidine on cellular processes and gene expression during development of the first branchial arch.GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.Noggin-Mediated Retinal Induction Reveals a Novel Interplay Between Bone Morphogenetic Protein Inhibition, Transforming Growth Factor β, and Sonic Hedgehog Signaling.Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.A Joint Less Ordinary: Intriguing Roles for Hedgehog Signalling in the Development of the Temporomandibular Synovial Joint.Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.Role of GLI Transcription Factors in Pathogenesis and Their Potential as New Therapeutic Targets
P2860
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P2860
Clinical findings in patients with GLI2 mutations--phenotypic variability.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Clinical findings in patients with GLI2 mutations--phenotypic variability.
@ast
Clinical findings in patients with GLI2 mutations--phenotypic variability.
@en
type
label
Clinical findings in patients with GLI2 mutations--phenotypic variability.
@ast
Clinical findings in patients with GLI2 mutations--phenotypic variability.
@en
prefLabel
Clinical findings in patients with GLI2 mutations--phenotypic variability.
@ast
Clinical findings in patients with GLI2 mutations--phenotypic variability.
@en
P2093
P2860
P1433
P1476
Clinical findings in patients with GLI2 mutations--phenotypic variability
@en
P2093
A Richieri-Costa
C D P Bertolacini
J C Murray
P2860
P356
10.1111/J.1399-0004.2010.01606.X
P577
2011-01-19T00:00:00Z