Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
about
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signalingMediator kinase module and human tumorigenesisThe use of neuroimaging for assessing disorders of pituitary development.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.New insights into genotype-phenotype correlation for GLI3 mutations.Renal anomalies associated with ectopic neurohypophysisMetopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.The epidemiology, genetics and future management of syndactyly.Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development.Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlationsSonic Hedgehog Signaling and VACTERL Association.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Genetics of cleft lip and cleft palate.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.GLI3-related polydactyly: a review.Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient.The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population.GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.A de novo GLI3 mutation in a patient with acrocallosal syndromeCerebral dysgenesis does not exclude OFD I syndromeGLI3 is rarely implicated in OFD syndromes with midline abnormalitiesA delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
P2860
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P2860
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@ast
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@en
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@nl
type
label
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@ast
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@en
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@nl
prefLabel
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@ast
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@en
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@nl
P2093
P2860
P50
P356
P1433
P1476
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
@en
P2093
Alan F Rope
Alexa M J Kidd
Amy Shealy
Angela E Lin
Anne Chun-Hui Tsai
Annmarie Sommer
Bernhard Steiner
Bernhard Zabel
Cynthia J Curry
David Tilstra
P2860
P304
P356
10.1002/HUMU.21328
P577
2010-10-01T00:00:00Z