Analysis of genotype-phenotype correlations in human holoprosencephaly. - Test2 - elhamkhani - TriplyDB

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Analysis of genotype-phenotype correlations in human holoprosencephaly.

http://www.wikidata.org/entity/Q33625707

about

A genome-wide association study identifies five loci influencing facial morphology in Europeans VACTERL/VATER Association Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans When to suspect a genetic syndrome Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Ethanol itself is a holoprosencephaly-inducing teratogen.Abnormal sterol metabolism in holoprosencephaly 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.A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Clinical utility gene card for: Holoprosencephaly.Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.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 Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18 New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly.Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.The Genetics of Fetal Alcohol Spectrum Disorders.Gene-environment interactions in development and disease.Zebrafish Zic2a and Zic2b regulate neural crest and craniofacial development STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.Hh signaling regulates patterning and morphogenesis of the pharyngeal arch-derived skeleton.Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.Holoprosencephaly: report of four cases and genotype-phenotype correlations.Enhancer-adoption as a mechanism of human developmental disease.Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

P2860

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P2860

Analysis of genotype-phenotype correlations in human holoprosencephaly.

http://www.wikidata.org/entity/Q33625707

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2010 թվականի փետրվարին հրատարակված գիտական հոդված

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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

Analysis of genotype-phenotype correlations in human holoprosencephaly.

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Analysis of genotype-phenotype correlations in human holoprosencephaly.

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Analysis of genotype-phenotype correlations in human holoprosencephaly.

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Analysis of genotype-phenotype correlations in human holoprosencephaly.

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Analysis of genotype-phenotype correlations in human holoprosencephaly.

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Analysis of genotype-phenotype correlations in human holoprosencephaly.

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

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Analysis of genotype-phenotype correlations in human holoprosencephaly.

@en

P2093

Adrian Wyllie

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

Benjamin D Solomon

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Christèle Dubourg

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Daniel E Pineda-Alvarez

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Erich Roessler

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Jorge I Vélez

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Maximilian Muenke

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Nan Zhou

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Sandra Mercier

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Sylvie Odent

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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.

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

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

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133-141

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scholarly article

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10.1002/AJMG.C.30240

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1

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154C

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2010-02-01T00:00:00Z

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41149579

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20104608

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holoprosencephaly

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2815217

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