(Q62320846)

English

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

scientific article published on 13 January 2014

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scholarly article

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3 March 2020

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains (English)

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3 March 2020

cognitive dysfunction

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9

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3 March 2020

Patrizia D'Adamo

13

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3 March 2020

author name string

Lieselot Vanmarsenille

1

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3 March 2020

Maila Giannandrea

2

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3 March 2020

Nathalie Fieremans

3

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3 March 2020

Jelle Verbeeck

4

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3 March 2020

Stefanie Belet

5

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3 March 2020

Martine Raynaud

6

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3 March 2020

Annick Vogels

7

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3 March 2020

Katrin Männik

8

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3 March 2020

Vigneron Jacqueline

10

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3 March 2020

Sylvain Briault

11

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3 March 2020

Hilde Van Esch

12

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3 March 2020

Guy Froyen

14

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3 March 2020

publication date

1 March 2014

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3 March 2020

1 reference

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3 March 2020

35

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3 March 2020

3

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3 March 2020

377-383

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3 March 2020

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Fragile X and X-linked intellectual disability: four decades of discovery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Rab GTPase localization and Rab cascades in Golgi transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of Early Onset Cognitive Impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22497

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22497

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24357492%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24357492%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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