New insights into genotype-phenotype correlation for GLI3 mutations. - Test2 - elhamkhani - TriplyDB

New insights into genotype-phenotype correlation for GLI3 mutations.

New insights into genotype-phenotype correlation for GLI3 mutations.

http://www.wikidata.org/entity/Q34705130

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The genetic landscape and clinical implications of vertebral anomalies in VACTERL association Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.Hedgehog activity controls opening of the primary mouth.A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Development of a Lac Operon Concept Inventory (LOCI).Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.GLI3-related polydactyly: a review.Safety and efficacy of Gamma Knife radiosurgery in hypothalamic hamartomas with severe epilepsies: A prospective trial in 48 patients and review of the literature.Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population.Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma".A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.Role of GLI Transcription Factors in Pathogenesis and Their Potential as New Therapeutic Targets Sonic Hedgehog Signaling Rises to the Surface: Emerging Roles in Neocortical Development A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma

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New insights into genotype-phenotype correlation for GLI3 mutations.

http://www.wikidata.org/entity/Q34705130

description

2014 nî lūn-bûn

@nan

2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

New insights into genotype-phenotype correlation for GLI3 mutations.

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New insights into genotype-phenotype correlation for GLI3 mutations.

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New insights into genotype-phenotype correlation for GLI3 mutations.

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type

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New insights into genotype-phenotype correlation for GLI3 mutations.

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New insights into genotype-phenotype correlation for GLI3 mutations.

@en

New insights into genotype-phenotype correlation for GLI3 mutations.

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prefLabel

New insights into genotype-phenotype correlation for GLI3 mutations.

@ast

New insights into genotype-phenotype correlation for GLI3 mutations.

@en

New insights into genotype-phenotype correlation for GLI3 mutations.

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European Journal of Human Genetics

P1476

New insights into genotype-phenotype correlation for GLI3 mutations.

@en

P2093

Alain Liquier

http://www.w3.org/2001/XMLSchema#string

Alexandra Afenjar

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Amale Ichkou

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Amanda Krause

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André Megarbané

http://www.w3.org/2001/XMLSchema#string

Anne Dieux-Coeslier

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Anne-Lise Delezoide

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Bertrand Isidor

http://www.w3.org/2001/XMLSchema#string

Catherine Vincent-Delorme

http://www.w3.org/2001/XMLSchema#string

Chloé Quélin

http://www.w3.org/2001/XMLSchema#string

P2860

The Greig cephalopolysyndactyly syndrome

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

Point mutations in GLI3 lead to misregulation of its subcellular localization.

Pallister-Hall syndrome.

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

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92-102

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scholarly article

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10.1038/EJHG.2014.62

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1

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23

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Valérie Cormier-Daire

Tania Attié-Bitach

Martine Le Merrer

Lionel Van Maldergem

Soumaya Mougou-Zerelli

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2014-04-16T00:00:00Z

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261742924

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24736735

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4266745

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