The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males (Q33719820)

28 July 2017

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males (English)

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28 July 2017

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D Germanaud

1

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Lucie Hertz-Pannier

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L Hertz-Pannier

5

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Hélène Dollfus

7

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H Dollfus

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28 July 2017

M Rossi

2

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G Bussy

3

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D Gérard

4

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P Blanchet

6

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F Giuliano

8

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V Bennouna-Greene

9

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P Sarda

10

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S Sigaudy

11

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A Curie

12

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M C Vincent

13

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R Touraine

14

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V des Portes

15

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18 October 2010

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79

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3

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225-235

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

28 July 2017

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Renpenning syndrome comes into focus

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

PQBP-1 is expressed predominantly in the central nervous system during development.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Brn-1 and Brn-2 share crucial roles in the production and positioning of mouse neocortical neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

A new X-linked multiple congenital anomalies/mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

Knock-down of PQBP1 impairs anxiety-related cognition in mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01551.X

10.1111/J.1399-0004.2010.01551.X

21 January 2018

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DOI

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28 July 2017

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