ZFHX1B mutations in patients with Mowat-Wilson syndrome. - Wikidata - awgldk - TriplyDB

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

http://www.wikidata.org/entity/Q34597855

about

Mowat-Wilson syndrome Factors controlling cardiac neural crest cell migration Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)EMX1 regulates NRP1-mediated wiring of the mouse anterior cingulate cortex.Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.Gene expression in cortical interneuron precursors is prescient of their mature function.Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Retroviral insertional mutagenesis identifies Zeb2 activation as a novel leukemogenic collaborating event in CALM-AF10 transgenic mice.Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease.Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.Mowat-Wilson syndrome in a Moroccan consanguineous family Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system.miR-200b mediates post-transcriptional repression of ZFHX1B.Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination Towards an evidence-based process for the clinical interpretation of copy number variation TGF-beta signal transduction in chronic kidney disease Transcription factor pathways and congenital heart disease.Advances in molecular genetics of Hirschsprung's disease.Oncogenic roles of EMT-inducing transcription factors.Clinical utility gene card for: Mowat-Wilson syndrome Knockout mouse models of Hirschsprung's disease.ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.Zebrafish sip1a and sip1b are essential for normal axial and neural patterning.Mowat-Wilson syndrome: neurological and molecular study in seven patients.FGF dependent regulation of Zfhx1b gene expression promotes the formation of definitive neural stem cells in the mouse anterior neurectoderm.Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits.De novo inbred heterozygous Zeb2/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome.ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.ZEB2, a new candidate gene for asplenia.A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.BMP4 signaling mediates Zeb family in developing mouse tooth.miR-200b regulates cell migration via Zeb family during mouse palate development.Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.

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P2860

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

http://www.wikidata.org/entity/Q34597855

description

2007 nî lūn-bûn

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2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի ապրիլին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

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ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@en

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@nl

type

label

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@ast

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@en

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@nl

prefLabel

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@ast

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@en

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@nl

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ZFHX1B mutations in patients with Mowat-Wilson syndrome.

@en

P2093

David Mowat

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

Florence Dastot-Le Moal

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

Florence Niel

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

Meredith Wilson

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

Michel Goossens

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

Nathalie Collot

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

P2860

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

P304

313-321

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scholarly article

P356

10.1002/HUMU.20452

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4

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28

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2007-04-01T00:00:00Z

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17203459

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