(Q50303136)

2 March 2018

title

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization (English)

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2 March 2018

author name string

Bonnet C

1

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2 March 2018

Grégoire MJ

2

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2 March 2018

Brochet K

3

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2 March 2018

Raffo E

4

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2 March 2018

Leheup B

5

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2 March 2018

Jonveaux P

6

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2 March 2018

publication date

10 August 2006

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2 March 2018

Journal of Human Genetics

published in

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2 March 2018

volume

51

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2 March 2018

issue

9

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2 March 2018

page(s)

815-821

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2 March 2018

Xp-duplications with and without sex reversal

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0023-3

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0023-3

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0023-3

Functional disomy of Xp: prenatal findings and postnatal outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0023-3

Duplication of the short arm of the X chromosome in mother and daughter

21 January 2018

1 reference

12 December 2020

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

1 reference

12 December 2020

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

1 reference

12 December 2020

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

1 reference

12 December 2020

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature

1 reference

12 December 2020

Detection of large-scale variation in the human genome

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

1 reference

12 December 2020

HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo

1 reference

12 December 2020

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

1 reference

12 December 2020

PQBP-1 increases vulnerability to low potassium stress and represses transcription in primary cerebellar neurons

1 reference

12 December 2020

Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome

1 reference

12 December 2020

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

1 reference

12 December 2020

Large-scale copy number polymorphism in the human genome

1 reference

12 December 2020

Inherited partial X chromosome duplication in a mentally retarded male

1 reference

12 December 2020

Rho GTPases, dendritic structure, and mental retardation

1 reference

12 December 2020

Segmental duplications and copy-number variation in the human genome

1 reference

12 December 2020

Molecular cytogenetic identification of four X chromosome duplications

1 reference

12 December 2020

Dax1 antagonizes Sry action in mammalian sex determination

1 reference

12 December 2020

10.1007/S10038-006-0023-3

Identifiers

DOI

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2 March 2018

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2 March 2018