(Q51948432)

18 April 2018

title

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

1 reference

18 April 2018

1 reference

1 reference

Meredith Wilson

1

1 reference

18 April 2018

David Mowat

2

1 reference

18 April 2018

Florence Dastot-Le Moal

3

1 reference

18 April 2018

Valère Cacheux

4

1 reference

18 April 2018

Helena Kääriäinen

5

1 reference

18 April 2018

Danny Cass

6

1 reference

18 April 2018

Dian Donnai

7

1 reference

18 April 2018

Jill Clayton-Smith

8

1 reference

18 April 2018

Sharron Townshend

9

1 reference

18 April 2018

Cynthia Curry

10

1 reference

18 April 2018

Michael Gattas

11

1 reference

18 April 2018

Stephen Braddock

12

1 reference

18 April 2018

Bronwyn Kerr

13

1 reference

18 April 2018

Salim Aftimos

14

1 reference

18 April 2018

Harry Zehnwirth

15

1 reference

18 April 2018

Catherine Barrey

16

1 reference

18 April 2018

Michel Goossens

17

1 reference

18 April 2018

language of work or name

English

0 references

publication date

1 June 2003

1 reference

18 April 2018

American Journal of Medical Genetics

published in

1 reference

18 April 2018

volume

119A

1 reference

18 April 2018

issue

3

1 reference

18 April 2018

page(s)

257-265

1 reference

18 April 2018

Infantile pyloric stenosis associated with major anomalies of the alimentary tract

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Hirschsprung disease, associated syndromes, and genetics: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Neuroimaging methods to evaluate the etiology and consequences of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Expression of the SMADIP1 gene during early human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Associated anomalies in intestinal neuronal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Genetics of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Hippocampal and amygdaloid damage in partial epilepsy: a cross-sectional MRI study of 241 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

XSIP1, a Xenopus zinc finger/homeodomain encoding gene highly expressed during early neural development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

?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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20053

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20053

1 reference

18 April 2018

1 reference

18 April 2018