ZFHX1B mutations in patients with Mowat-Wilson syndrome (Q34597855)

3 August 2017

title

ZFHX1B mutations in patients with Mowat-Wilson syndrome (English)

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3 August 2017

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Florence Dastot-Le Moal

1

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3 August 2017

Meredith Wilson

2

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3 August 2017

David Mowat

3

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3 August 2017

Nathalie Collot

4

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Florence Niel

5

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3 August 2017

Michel Goossens

6

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publication date

1 April 2007

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volume

28

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issue

4

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3 August 2017

page(s)

313-321

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

3 August 2017

cites work

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

21 January 2018

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

21 January 2018

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Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

21 January 2018

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7 January 2021

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

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7 January 2021

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

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7 January 2021

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

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7 January 2021

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

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7 January 2021

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

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7 January 2021

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

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7 January 2021

Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin

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7 January 2021

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

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7 January 2021

Dynamic regulation of Brachyury expression in the amphibian embryo by XSIP1.

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7 January 2021

Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors

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7 January 2021

Opposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathway

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7 January 2021

New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites

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7 January 2021

Churchill, a zinc finger transcriptional activator, regulates the transition between gastrulation and neurulation

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7 January 2021

Coordinated histone modifications mediated by a CtBP co-repressor complex

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7 January 2021

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

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7 January 2021

Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome

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7 January 2021

Interaction between Smad-interacting protein-1 and the corepressor C-terminal binding protein is dispensable for transcriptional repression of E-cadherin

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7 January 2021

SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

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7 January 2021

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

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7 January 2021

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

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7 January 2021

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

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7 January 2021

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs

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7 January 2021

Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

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7 January 2021

?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

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7 January 2021

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

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7 January 2021

Clinical and mutational spectrum of Mowat-Wilson syndrome.

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20452

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3 August 2017

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