Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion (Q34554922)

3 August 2017

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion (English)

1 reference

3 August 2017

1 reference

Dominique Bremond-Gignac

object named as

Dominique Brémond-Gignac

1

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Didier Lacombe

object named as

Didier Lacombe

7

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Alain Verloes

10

object named as

Alain Verloes

1 reference

3 August 2017

3

Henri Copin

1 reference

3 August 2017

8

Clarisse Baumann

1 reference

3 August 2017

John A Crolla

2

1 reference

3 August 2017

Agnès Guichet

4

1 reference

3 August 2017

Dominique Bonneau

5

1 reference

3 August 2017

Laurence Taine

6

1 reference

3 August 2017

Brigitte Benzacken

9

1 reference

3 August 2017

1 April 2005

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European Journal of Human Genetics

3 August 2017

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3 August 2017

13

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3 August 2017

409-413

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3 August 2017

4

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201358

3 August 2017

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cites work

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

Positional cloning of a gene involved in hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

inferred from DOI database lookup

7 January 2021

based on heuristic

Obesity and WAGR syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

inferred from DOI database lookup

7 January 2021

based on heuristic

Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201358

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201358

1 reference

3 August 2017

1 reference