GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
about
Anophthalmia and microphthalmiaInhibition of microtubule assembly in osteoblasts stimulates bone morphogenetic protein 2 expression and bone formation through transcription factor Gli2The molecular genetics of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.Clinical findings in patients with GLI2 mutations--phenotypic variability.New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.Holoprosencephaly: new models, new insights.The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.Noggin-Mediated Retinal Induction Reveals a Novel Interplay Between Bone Morphogenetic Protein Inhibition, Transforming Growth Factor β, and Sonic Hedgehog Signaling.Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features.Role of GLI Transcription Factors in Pathogenesis and Their Potential as New Therapeutic Targets
P2860
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P2860
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
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2006 nî lūn-bûn
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2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@ast
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@en
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@nl
type
label
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@ast
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@en
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@nl
prefLabel
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@ast
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@en
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@nl
P2093
P3181
P356
P1476
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
@en
P2093
Eziquiel de Miranda
Fedik Rahimov
Jeffrey C Murray
P304
P3181
P356
10.1002/AJMG.A.31370
P407
P577
2006-12-01T00:00:00Z