(Q37397632)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

main subject

autism spectrum disorder

0 references

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Michael E. Talkowski

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

15

Jennelle C Hodge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Sureni V Mullegama

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jill A Rosenfeld

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Bregje W M van Bon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Sara Halbach

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elena A Repnikova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lauren Brick

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Chumei Li

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lucie Dupuis

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Monica Rosello

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Swaroop Aradhya

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

D James Stavropoulos

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kandamurugu Manickam

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elyse Mitchell

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kory Keller

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jonathan Zonana

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Stuart Schwartz

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Robert E Pyatt

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Darrel J Waggoner

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lisa G Shaffer

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Angela E Lin

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Bert B A de Vries

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Roberto Mendoza-Londono

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Sarah H Elsea

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

James F Gusella

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

1 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

57-63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.67

29 February 2020

exact match

0 references

cites work

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Molecular and Clinical Aspects of Angelman Syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Microdeletion and microduplication syndromes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Functional impact of global rare copy number variation in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

CNV and nervous system diseases--what's new?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Copy-number variations associated with neuropsychiatric conditions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Rubinstein-Taybi syndrome: clinical and molecular overview

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Williams syndrome: pediatric, neurologic, and cognitive development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

A functional network module for Smith-Magenis syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

Common recurrent microduplication syndromes: diagnosis and management in clinical practice

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865402

5 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23632792

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis of partial trisomy 2q. Case report

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23632792

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microdeletion and microduplication syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23632792

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23632792%20AND%20SRC:MED&resulttype=core&format=json