A systematic variant screening in familial cases of congenital heart defects demonstrates the useful...
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
About this item
Full title
Author / Creator
El Malti, Rajae , Liu, Hui , Doray, Bérénice , Thauvin, Christel , Maltret, Alice , Dauphin, Claire , Gonçalves-Rocha, Miguel , Teboul, Michel , Blanchet, Patricia , Roume, Joëlle , Gronier, Céline , Ducreux, Corinne , Veyrier, Magali , Marçon, François , Acar, Philippe , Lusson, Jean-René , Levy, Marilyne , Beyler, Constance , Vigneron, Jacqueline , Cordier-Alex, Marie-Pierre , Heitz, François , Sanlaville, Damien , Bonnet, Damien and Bouvagnet, Patrice
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the pr...
Alternative Titles
Full title
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
Authors, Artists and Contributors
Author / Creator
Liu, Hui
Doray, Bérénice
Thauvin, Christel
Maltret, Alice
Dauphin, Claire
Gonçalves-Rocha, Miguel
Teboul, Michel
Blanchet, Patricia
Roume, Joëlle
Gronier, Céline
Ducreux, Corinne
Veyrier, Magali
Marçon, François
Acar, Philippe
Lusson, Jean-René
Levy, Marilyne
Beyler, Constance
Vigneron, Jacqueline
Cordier-Alex, Marie-Pierre
Heitz, François
Sanlaville, Damien
Bonnet, Damien
Bouvagnet, Patrice
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4717196
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4717196
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.105
