(Q51955909)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

moderate mental retardation

10 November 2019

main subject

obesity

0 references

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

T Kleefstra

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

H G Yntema

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A R Oudakker

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

T Romein

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

E Sistermans

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

W Nillessen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

B B A de Vries

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

B C J Hamel

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 May 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

5

1 reference

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10 November 2019

page(s)

359-362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

Rett syndrome: Criteria for inclusion and exclusion

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

MECP2 mutations account for most cases of typical forms of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610507.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2002.610507.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12081720%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference