(Q54531000)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Marc Gewillig

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Léon-Charles Tranchevent

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Karel Allegaert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

7

Joris R Vermeesch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

8

Yves Moreau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Jeroen Breckpot

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Marijke Bauters

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Koenraad Devriendt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

8 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

22 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

158A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

3

1 reference

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22 January 2020

page(s)

574-580

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22318985%20AND%20SRC:MED&resulttype=core&format=json

Gene prioritization through genomic data fusion

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Clinical features of 78 adults with 22q11 Deletion Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A novel atypical 22q11.2 distal deletion in father and son.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A new type of ERK1/2 autophosphorylation causes cardiac hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Genomic disorders on 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A novel 22q11.2 microdeletion in DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Haploinsufficiency of TAB2 causes congenital heart defects in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

ENDEAVOUR update: a web resource for gene prioritization in multiple species

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35217