(Q57720152)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

main subject

microdeletion syndrome

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Serafino Buono

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Donatella Greco

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Concetta Barone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Corrado Romano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Chiara Pantaleoni

8

1 reference

ORCID Public Data File 2021

Enrico Alfei

5

object named as

Enrico Alfei

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Sara Bulgheroni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Arianna Usilla

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

24 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

161A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

12

1 reference

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29 February 2020

page(s)

3018-3022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Association testing of copy number variants in schizophrenia and autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

3q29 interstitial microduplication: a new syndrome in a three-generation family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

New copy number variations in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Microdeletions of 3q29 confer high risk for schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Additional support for linkage of schizophrenia and bipolar disorder to chromosome 3q29

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

Bipolar disorder susceptibility region on chromosome 3q29 not confirmed in a case–control association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36142

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36142

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24214349%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference