(Q35430841)

English

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10528854%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. (English)

1 reference

Europe PubMed Central

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1 November 2019

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1 November 2019

Laurent Villard

1

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1 November 2019

Laurence Colleaux

6

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1 November 2019

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S Briault

2

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1 November 2019

A M Lossi

3

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1 November 2019

C Paringaux

4

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1 November 2019

J Belougne

5

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1 November 2019

D R Pincus

7

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1 November 2019

E Woollatt

8

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1 November 2019

J Lespinasse

9

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1 November 2019

A Munnich

10

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1 November 2019

C Moraine

11

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1 November 2019

M Fontès

12

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1 November 2019

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publication date

1 October 1999

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1 November 2019

Journal of Medical Genetics

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1 November 2019

36

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1 November 2019

10

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1 November 2019

754-758

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10528854%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A physical map of 30,000 human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

PAK3 mutation in nonsyndromic X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Mind the GAP, Rho, Rab and GDI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

A Gene Map of the Human Genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

XLMR genes: update 1996.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Identification of the gene FMR2, associated with FRAXE mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Nomenclature guidelines for X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

26 September 2018

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

26 September 2018

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734241

26 September 2018

Use of interspersed repetitive sequences-PCR products for cDNA selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positional cloning moves from perditional to traditional

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Position effect in human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528854

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.36.10.754

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10528854%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10528854%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10528854%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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