Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. - sprookjes - yvandenbroek - TriplyDB

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

http://www.wikidata.org/entity/Q35603630

about

Large-scale objective phenotyping of 3D facial morphology Dental phenomics: advancing genotype to phenotype correlations in craniofacial research Ethanol-induced face-brain dysmorphology patterns are correlative and exposure-stage dependent Facial dysmorphism across the fetal alcohol spectrum Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Face shape differs in phylogenetically related populations.Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.Opposite effects on facial morphology due to gene dosage sensitivity Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.Wolf-Hirschhorn syndrome: A review and update.Detecting genetic association of common human facial morphological variation using high density 3D image registration Classification and visualization based on derived image features: application to genetic syndromes.Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature Utilizing three-dimensional data in orthodontic practice and research.Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders.Craniofacial characteristics of fragile X syndrome in mouse and man.The facial evolution: looking backward and moving forward.Understanding human diseases with high-throughput quantitative measurement and analysis of molecular signatures.Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge.Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.Ensemble landmarking of 3D facial surface scans.Modelling 3D craniofacial growth trajectories for population comparison and classification illustrated using sex-differences.

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

http://www.wikidata.org/entity/Q35603630

description

2011 nî lūn-bûn

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2011年論文

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name

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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type

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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European Journal of Human Genetics

P1476

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

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P2093

Dominic McMullan

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Femke Hannes

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Francesca Faravelli

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Francesca Forzano

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John C Carey

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Joris Robert Vermeesch

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Koen Devriendt

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Michael Suttie

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Oliver Quarrell

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Peter Hammond

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P2860

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

The etiology of Wolf-Hirschhorn syndrome

GTF2IRD1 in craniofacial development of humans and mice

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral--craniofacial morphogenesis and cognitive function.

Discriminating power of localized three-dimensional facial morphology.

[Deficiency on the short arms of a chromosome No. 4]

Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.

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