(Q41919819)

English

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

scientific article published on April 2006

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scholarly article

1 reference

Europe PubMed Central

14 October 2017

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect (English)

1 reference

Europe PubMed Central

14 October 2017

Vera M. Kalscheuer

15

1 reference

Europe PubMed Central

14 October 2017

Jean-Louis Mandel

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object named as

Jean-Louis Mandel

1 reference

Europe PubMed Central

14 October 2017

Bernard Echenne

4

object named as

Bernard Echenne

1 reference

Europe PubMed Central

14 October 2017

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object named as

Manuela Antin

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Europe PubMed Central

14 October 2017

author name string

Mireille Cossée

1

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Europe PubMed Central

14 October 2017

Bénédicte Demeer

2

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Europe PubMed Central

14 October 2017

Patricia Blanchet

3

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Europe PubMed Central

14 October 2017

Deepika Singh

5

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Europe PubMed Central

14 October 2017

Olivier Hagens

6

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Europe PubMed Central

14 October 2017

Sonja Finck

8

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Europe PubMed Central

14 October 2017

Louis Vallee

9

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Europe PubMed Central

14 October 2017

Hélène Dollfus

10

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Europe PubMed Central

14 October 2017

Sridevi Hegde

11

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Europe PubMed Central

14 October 2017

Kelly Springell

12

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Europe PubMed Central

14 October 2017

B K Thelma

13

1 reference

Europe PubMed Central

14 October 2017

Geoffrey Woods

14

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Europe PubMed Central

14 October 2017

language of work or name

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publication date

1 April 2006

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Europe PubMed Central

14 October 2017

European Journal of Human Genetics

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Europe PubMed Central

14 October 2017

14

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14 October 2017

4

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14 October 2017

418-425

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14 October 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201593

0 references

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Monogenic causes of X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Renpenning syndrome comes into focus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Genomic organization and alternative transcripts of the human PQBP-1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Polar amino acid-rich sequences bind to polyglutamine tracts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

A nuclear SH3 domain-binding protein that colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

SIPP1, a novel pre-mRNA splicing factor and interactor of protein phosphatase-1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kD protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Mutation of MEF2A in an inherited disorder with features of coronary artery disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Lack of MEF2A mutations in coronary artery disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

The human cerebral cortex: gender differences in structure and function.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201593

21 January 2018

Identifiers

10.1038/SJ.EJHG.5201593

1 reference

Europe PubMed Central

14 October 2017

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1 reference

Europe PubMed Central

14 October 2017

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