(Q36134746)

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Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review

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scholarly article

1 reference

Europe PubMed Central

12 August 2017

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review (English)

1 reference

Europe PubMed Central

12 August 2017

Mowat-Wilson syndrome

1 reference

based on heuristic

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author name string

Garavelli L

1

1 reference

Europe PubMed Central

12 August 2017

Cerruti-Mainardi P

2

1 reference

Europe PubMed Central

12 August 2017

Virdis R

3

1 reference

Europe PubMed Central

12 August 2017

Pedori S

4

1 reference

Europe PubMed Central

12 August 2017

Pastore G

5

1 reference

Europe PubMed Central

12 August 2017

Godi M

6

1 reference

Europe PubMed Central

12 August 2017

Provera S

7

1 reference

Europe PubMed Central

12 August 2017

Rauch A

8

1 reference

Europe PubMed Central

12 August 2017

Zweier C

9

1 reference

Europe PubMed Central

12 August 2017

Zollino M

10

1 reference

Europe PubMed Central

12 August 2017

Banchini G

11

1 reference

Europe PubMed Central

12 August 2017

Longo N

12

1 reference

Europe PubMed Central

12 August 2017

Mowat D

13

1 reference

Europe PubMed Central

12 August 2017

Neri G

14

1 reference

Europe PubMed Central

12 August 2017

Bernasconi S

15

1 reference

Europe PubMed Central

12 August 2017

publication date

20 May 2005

1 reference

Europe PubMed Central

12 August 2017

Hormone Research

1 reference

Europe PubMed Central

12 August 2017

63

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Europe PubMed Central

12 August 2017

4

1 reference

Europe PubMed Central

12 August 2017

187-192

1 reference

Europe PubMed Central

12 August 2017

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

?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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

Nager acrofacial dysostosis: male-to-male transmission in 2 families

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

Genetics of Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1159%2F000085894

21 January 2018

Identifiers

10.1159/000085894

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

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