(Q35213632)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

review article

1 reference

title

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

11 references

28 January 2019

11 March 2019

13 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

11 December 2019

19 December 2019

20 December 2019

1 reference

14 September 2019

1 reference

11 December 2019

1 reference

19 December 2019

1 reference

20 December 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Kirstine Ravn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Gitte Roende

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Morten Duno

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kathrine Fuglsang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kristin L Eiklid

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jytte B Nielsen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Ola H Skjeldal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

1 reference

30 August 2011

11 references

11 March 2019

13 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

11 December 2019

19 December 2019

20 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

11 February 2020

published in

11 references

11 March 2019

13 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

11 December 2019

19 December 2019

20 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

11 February 2020

copyright license

11 references

28 January 2019

11 March 2019

13 March 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

11 December 2019

19 December 2019

on focus list of Wikimedia project

20 December 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Rett syndrome: revised diagnostic criteria and nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Variable phenotypic expression of a MECP2 mutation in a family.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

The story of Rett syndrome: from clinic to neurobiology

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

MECP2 mutations in males.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Male Rett phenotypes in T158M and R294X MeCP2-mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Very mild cases of Rett syndrome with skewed X inactivation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Classic Rett syndrome in a boy with R133C mutation of MECP2.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Parental origin of de novo MECP2 mutations in Rett syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.

13 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-58

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-58

Rett syndrome: clinical manifestations in males with MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-58

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-58

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-58

A novel familial MECP2 mutation in a young boy: clinical and molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-58

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Clinical profile of a male with Rett syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173288

MeCP2 mutations in children with and without the phenotype of Rett syndrome

26 September 2018

1 reference

12 December 2020

Two affected boys in a Rett syndrome family: clinical and molecular findings

1 reference

12 December 2020

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

12 December 2020

Rett syndrome in females with CTS hot spot deletions: a disorder profile

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21878110%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

21878110

1 reference