A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation (Q22254646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

Variable charge X-linked 3A

8 November 2019

main subject

patient

0 references

1 reference

GOA release 2020-03-11

brain development

1 reference

GOA release 2020-03-11

5

V Benes

V

Benes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

6

B Franco

B

Franco

1 reference

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8 November 2019

7

K Muroya

K

Muroya

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

11

A Ballabio

A

Ballabio

1 reference

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8 November 2019

13

T Ogata

T

Ogata

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Fukami

1

M

Fukami

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Kirsch

2

S

Kirsch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Schiller

3

S

Schiller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Richter

4

A

Richter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

E Rao

8

E

Rao

1 reference

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8 November 2019

S Merker

9

S

Merker

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

B Niesler

10

B

Niesler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

W Ansorge

12

W

Ansorge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G A Rappold

14

G A

Rappold

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

20 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

67

1 reference

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8 November 2019

page(s)

563-573

1 reference

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8 November 2019

issue

3

1 reference

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A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Functional coherence of the human Y chromosome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Linkage analysis in three families with nonspecific X-linked mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Genes for cognitive function: developments on the X.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Simultaneous loading of 200 sample lanes for DNA sequencing on vertical and horizontal, standard and ultrathin gels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Molecular studies of deletions at the human steroid sulfatase locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

A high resolution deletion map of human chromosome Xp22.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Chondrodysplasia punctata with X;Y translocation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287516

X-linked mental retardation

29 November 2018

1 reference

12 December 2020

A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male

1 reference

12 December 2020

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

1 reference

12 December 2020

Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions

1 reference

12 December 2020

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

1 reference

12 December 2020

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

1 reference

12 December 2020

Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2.

1 reference

12 December 2020

How many X-linked genes for non-specific mental retardation (MRX) are there?

1 reference

12 December 2020

Breaking the rule of three

1 reference

12 December 2020

Sixth International Workshop on Human X Chromosome Mapping 1995. Banff, Alberta, Canada, June 16-18, 1995. Report and abstracts

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F303047

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/303047

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10903929%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference