Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis (Q34418084)

2 August 2017

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis (English)

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2 August 2017

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1

Hilde Van Esch

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Joris R Vermeesch

6

object named as

Joris Robert Vermeesch

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ORCID Public Data File 2021

2 August 2017

Liesbeth Badisco

3

object named as

Liesbeth Badisco

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2 August 2017

8

Jean-Pierre Fryns

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2 August 2017

Hilde Van Esch

1

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2 August 2017

Karen Hollanders

2

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2 August 2017

Cindy Melotte

4

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2 August 2017

Paul Van Hummelen

5

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2 August 2017

Koen Devriendt

7

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2 August 2017

Peter Marynen

9

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2 August 2017

Guy Froyen

10

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2 August 2017

11 May 2005

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2 August 2017

Human Molecular Genetics

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2 August 2017

14

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2 August 2017

1795-1803

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2 August 2017

13

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X-linked ichthyosis: an update

2 August 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Expression and localization of VCX/Y proteins and their possible involvement in regulation of ribosome assembly during spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI186

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI186

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release_xqacge56gzhynaz2la5l55ttgi

2 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/xqacge56gzhynaz2la5l55ttgi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference