(Q51906849)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

5

1 reference

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25 December 2019

Irene Madrigal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Celia Badenas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Aurora Sanchez Diaz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Montserrat Milà

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Laia Rodríguez-Revenga

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Isabel Fernandez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Miguel Fernández-Burriel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

1 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

117-122

1 reference

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e318031206e

25 December 2019

exact match

0 references

cites work

A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

X-linked mental retardation: further lumping, splitting and emerging phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Nonsyndromic X-linked mental retardation: where are the missing mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Generation of constitutively active p90 ribosomal S6 kinase in vivo. Implications for the mitogen-activated protein kinase-activated protein kinase family

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Coffin-Lowry syndrome: clinical and molecular features

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

21 January 2018

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Molecular pathology of filamin A: diverse phenotypes, many functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318031206E

10.1097/GIM.0B013E318031206E

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304053%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

25 December 2019

0 references

1 reference