(Q51756652)

11 April 2018

title

An explanation for another familial case of Rett syndrome: maternal germline mosaicism. (English)

1 reference

11 April 2018

0 references

2

1 reference

11 April 2018

Patricia Maciel

4

1 reference

11 April 2018

author name string

Margarida Venâncio

1

1 reference

11 April 2018

Susana Aires Pereira

3

1 reference

11 April 2018

Jorge M Saraiva

5

1 reference

11 April 2018

publication date

18 April 2007

1 reference

11 April 2018

European Journal of Human Genetics

published in

1 reference

11 April 2018

volume

15

1 reference

11 April 2018

issue

8

1 reference

11 April 2018

page(s)

902-904

1 reference

11 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201835

exact match

0 references

cites work

Rett syndrome: clinical review and genetic update

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Rett syndrome: new clinical and molecular insights.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201835

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201835

1 reference

11 April 2018

1 reference

11 April 2018