Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (Q24676259)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Danielle Depetris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Marie-Geneviève Mattéi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Jozef Gécz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Laurent Villard

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

author name string

A-M Lossi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

S Boulanger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

C E Schwartz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

L Van Maldergem

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

language of work or name

English

0 references

publication date

1 October 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

3 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

736-742

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

3 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

AGTR2 mutations in X-linked mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Clinical and molecular contributions to the understanding of X-linked mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Monogenic causes of X-linked mental retardation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Molecular pharmacology of P2Y-receptors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

MECP2 is highly mutated in X-linked mental retardation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735597

Phenotypes Associated with SHOX Deficiency

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15466006

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2004.021626

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15466006%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PubMed publication ID

15466006

2 references