(Q34578450)

3 August 2017

title

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families (English)

1 reference

3 August 2017

N Seta

12

0 references

author name string

C Bouchet

1

1 reference

3 August 2017

S Vuillaumier-Barrot

2

1 reference

3 August 2017

M Gonzales

3

1 reference

3 August 2017

S Boukari

4

1 reference

3 August 2017

C Le Bizec

5

1 reference

3 August 2017

C Fallet

6

1 reference

3 August 2017

A-L Delezoide

7

1 reference

3 August 2017

H Moirot

8

1 reference

3 August 2017

A Laquerriere

9

1 reference

3 August 2017

F Encha-Razavi

10

1 reference

3 August 2017

G Durand

11

1 reference

3 August 2017

publication date

31 October 2006

1 reference

Molecular Genetics and Metabolism

3 August 2017

published in

1 reference

3 August 2017

volume

90

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

93-96

1 reference

Diagnostic criteria for Walker-Warburg syndrome

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

Glyc-O-genetics of Walker-Warburg syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.09.005

10.1016/J.YMGME.2006.09.005

7 January 2021

Identifiers

DOI

1 reference

3 August 2017

1 reference