Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype - Wikidata - thesis-toulmin - TriplyDB

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

http://www.wikidata.org/entity/Q24548200

about

An enlarged parietal foramen in the late archaic Xujiayao 11 neurocranium from Northern China, and rare anomalies among Pleistocene Homo ALX4 dysfunction disrupts craniofacial and epidermal development Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.ALX4 gain-of-function mutations in nonsyndromic craniosynostosis Developmental mechanisms and experimental models to understand forebrain malformative diseases.Pitfalls in the phylogenomic evaluation of human disease-causing mutations.Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.Enlarged parietal foramina: a rare forensic autopsy finding.Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.Large parietal midline defect with unusual ridge-like structure at the rim and persistent falcine sinus.Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.Enlarged parietal foramina: a rare finding in a female Greek skull with unusual multiple Wormian bones and a rich parietal vascular network.Mild nasal clefting may be predictive for ALX4 heterozygotes.Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.MSX2 Gene Duplication in a Patient with Eye Development Defects.Boston type craniosynostosis: report of a second mutation in MSX2.Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation ALX4 related parietal foramina mimicking encephalocele in prenatal period

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P2860

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

http://www.wikidata.org/entity/Q24548200

description

2006 nî lūn-bûn

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2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2006 թվականի փետրվարին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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European Journal of Human Genetics

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Enlarged parietal foramina cau ...... X2: from genotype to phenotype

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Indira B Taylor

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José L Olivares

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Lampros A Mavrogiannis

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Sally J Davies

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P2860

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

Clinical and molecular analysis of nine families with Adams-Oliver syndrome

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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sj.ejhg.5201526

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Andrew Oliver Mungo Wilkie

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