(Q47070224)

English

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

scientific article published on 4 May 2013

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

autosomal dominant non-syndromic intellectual disability 18

0 references

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lisenka Vissers

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Annette Schenck

23

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Anna Castells-Nobau

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Joris A Veltman

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hans van Bokhoven

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

12

object named as

Han G Brunner

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Tjitske Kleefstra

24

object named as

Tjitske Kleefstra

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Marjolein H Willemsen

1

object named as

Marjolein H Willemsen

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Willy M Nillesen

4

object named as

Willy M Nillesen

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2

object named as

Bonnie Nijhof

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

21

object named as

David A Koolen

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Helger G Yntema

15

object named as

Helger G Yntema

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Bregje W van Bon

9

object named as

Bregje W M van Bon

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ernie M H F Bongers

5

object named as

Ernie M H F Bongers

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Bert B A de Vries

13

object named as

Bert B A de Vries

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Michaela Fenckova

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lenke Asztalos

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Erika Viragh

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Emre Tezel

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Bertrand Isidor

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elsa Lorino

19

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Zoltan Asztalos

20

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Cédric Le Caignec

18

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

0 references

publication date

4 May 2013

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

50

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

507-514

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23644463%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Genetic and epigenetic networks in intellectual disabilities.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

A de novo paradigm for mental retardation.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and histone interaction

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Developmental roles of the Mi-2/NURD-associated protein p66 in Drosophila

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Automated measurement of Drosophila jump reflex habituation and its use for mutant screening.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Olfactory jump reflex habituation in Drosophila and effects of classical conditioning mutations

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Drosophila Acyl-CoA synthetase long-chain family member 4 regulates axonal transport of synaptic vesicles and is required for synaptic development and transmission.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

De novo mutations in MLL cause Wiedemann-Steiner syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Mutants in the mouse NuRD/Mi2 component P66alpha are embryonic lethal

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

The Drosophila methyl-DNA binding protein MBD2/3 interacts with the NuRD complex via p55 and MI-2

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101490

21 January 2018

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q47070224&oldid=2090813051"