Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval (Q24319746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

title

Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

ArfGAP with dual PH domains 2

6 January 2020

main subject

congenital disorder

0 references

1 reference

GOA release 2020-03-11

heart development

1 reference

ArfGAP with dual PH domains 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Marco Venturin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

Angela Bentivegna

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

Ramona Frida Moroni

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

Paola Riva

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

author name string

L Larizza

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

language of work or name

English

0 references

publication date

1 September 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

published in

Annals of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

volume

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

issue

Pt 5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

508-516

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16138909 AND SRC:MED&resulttype=core&format=json

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

6 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Homeobox genes and axial patterning

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Congenital heart disease caused by mutations in the transcription factor NKX2-5

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Identification of centaurin-alpha2: a phosphatidylinositide-binding protein present in fat, heart and skeletal muscle

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Heart development: molecular insights into cardiac specification and early morphogenesis

20 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Elevated risk for MPNST in NF1 microdeletion patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Developmental cardiology comes of age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Genetic basis of syndromes associated with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Homeotic genes autonomously specify the anteroposterior subdivision of the Drosophila dorsal vessel into aorta and heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Direct activation of a GATA6 cardiac enhancer by Nkx2.5: evidence for a reinforcing regulatory network of Nkx2.5 and GATA transcription factors in the developing heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Williams syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

The oligodendrocyte-myelin glycoprotein gene is highly expressed during the late stages of myelination in the rat central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Jagged1 mutations in patients ascertained with isolated congenital heart defects

1 reference

https://api.crossref.org/works/10.1111/J.1529-8817.2005.00203.X