(Q35881522)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Lossi AM

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Houdayer C

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Moraine C

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Fontès M

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 March 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

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16 October 2019

volume

1 reference

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16 October 2019

issue

1 reference

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16 October 2019

page(s)

499-505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

MRX8: an X-linked mental retardation condition with linkage to Xq21.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

X-linked mental retardation: in pursuit of a gene map.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Construction of a YAC contig spanning the Xq13.3 subband.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914575

Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations

24 September 2018

1 reference

12 December 2020

Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family

1 reference

12 December 2020

XLMR genes: update 1994

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8644709

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644709%20AND%20SRC:MED&resulttype=core&format=json