Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients - Test2 - elhamkhani - TriplyDB

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

http://www.wikidata.org/entity/Q33624701

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Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly Zic2 hypomorphic mutant mice as a schizophrenia model and ZIC2 mutations identified in schizophrenia patients Holoprosencephaly: a guide to diagnosis and clinical management Holoprosencephaly: recommendations for diagnosis and management Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors Clinical utility gene card for: Holoprosencephaly.The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly.Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Molecular analysis of holoprosencephaly in South America.WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

http://www.wikidata.org/entity/Q33624701

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Current recommendations for th ...... sed holoprosencephaly patients

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Current recommendations for th ...... sed holoprosencephaly patients

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Current recommendations for th ...... sed holoprosencephaly patients

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Current recommendations for th ...... sed holoprosencephaly patients

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Current recommendations for th ...... sed holoprosencephaly patients

@en

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Christèle Dubourg

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

Daniel E Pineda-Alvarez

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

Erich Roessler

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

Véronique David

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

P2860

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

Functional analysis of mutations in TGIF associated with holoprosencephaly.

Application of array-based comparative genomic hybridization to clinical diagnostics

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

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93-101

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scholarly article

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10.1002/AJMG.C.30253

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1

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154C

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Maximilian Muenke

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2010-02-01T00:00:00Z

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41149575

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20104604

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holoprosencephaly

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2815008

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