(Q50312539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

MECP2 mutation in male patients with non-specific X-linked mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

0 references

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Joussef Hayek

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Antonio Federico

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

A Orrico

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

C Lam

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

L Galli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

M T Dotti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

S F Tong

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

P M Poon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

M Zappella

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

1 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

number of pages

4

1 reference

based on heuristic

inferred from page(s)

published in

FEBS Letters

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

481

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

285-288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

PAK3 mutation in nonsyndromic X-linked mental retardation

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Rett syndrome: Criteria for inclusion and exclusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Rett variants: a suggested model for inclusion criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

2 references

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

21 January 2018

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

inferred from DOI database lookup

7 January 2021

based on heuristic

Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

The solution structure of the domain from MeCP2 that binds to methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

21 January 2018

XLMR genes: Update 1998

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Clinical delineation of Rett syndrome variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2800%2901994-3

10.1016/S0014-5793(00)01994-3

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11007980%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference