Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve
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DiGregorio, Helene , Mansoorshahi, Sara , Carlisle, Steven G , Tovar Pensa, Catherina , Watts, Abi , McNeely, Courtney , Sabate-Rotes, Anna , Yetman, Anji , Michelena, Hector I , De Backer, Julie F A , Mosquera, Laura Muiño , Bissell, Malenka M , Andreassi, Maria Grazia , Foffa, Ilenia , Hui, Dawn S , Caffarelli, Anthony , Kim, Yuli Y , Citro, Rodolfo , De Marco, Margot , Tretter, Justin T , McBride, Kim L , Body, Simon C , Milewicz, Dianna M , Prakash, Siddharth K , Prakash, Siddharth K , Milewicz, Dianna M , Morris, Shaine A , Milewski, Rita , Limongelli, Giuseppe , Corte, Allesandro Della , Perrone, Laura , Kim, Yuli Y , Michelena, Hector I , Andreassi, Maria G , Evangelista, Arturo , Sallee, Denver , Yetman, Angela , McBride, Kim , Bossone, Eduardo , Citro, Rodolfo , Hui, Dawn S , Bissell, Malenka M , Ballotti, Andrea , Foffa, Ilenia , Marco, Margot De , Caffarelli, Anthony , Weise, Rita , DeBacker, Julie , Mosquera, Laura Muiño , Cohen, Robbin , Subira, Laura Dos , Tretter, Justin T , Rotes, Anna Sabe , Caiazza, Martina , Ali, Lamia Ait , Pluchinotta, Francesca , Body, Simon C and EBAV Investigators
Publisher
England: BMJ Publishing Group Ltd and British Cardiovascular Society
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Language
English
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Publisher
England: BMJ Publishing Group Ltd and British Cardiovascular Society
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Scope and Contents
Contents
BackgroundBicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.2DS), the contribution of rare copy number variants (CNVs) in this region to non-syndromic BAV is l...
Alternative Titles
Full title
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve
Authors, Artists and Contributors
Author / Creator
Mansoorshahi, Sara
Carlisle, Steven G
Tovar Pensa, Catherina
Watts, Abi
McNeely, Courtney
Sabate-Rotes, Anna
Yetman, Anji
Michelena, Hector I
De Backer, Julie F A
Mosquera, Laura Muiño
Bissell, Malenka M
Andreassi, Maria Grazia
Foffa, Ilenia
Hui, Dawn S
Caffarelli, Anthony
Kim, Yuli Y
Citro, Rodolfo
De Marco, Margot
Tretter, Justin T
McBride, Kim L
Body, Simon C
Milewicz, Dianna M
Prakash, Siddharth K
Prakash, Siddharth K
Milewicz, Dianna M
Morris, Shaine A
Milewski, Rita
Limongelli, Giuseppe
Corte, Allesandro Della
Perrone, Laura
Kim, Yuli Y
Michelena, Hector I
Andreassi, Maria G
Evangelista, Arturo
Sallee, Denver
Yetman, Angela
McBride, Kim
Bossone, Eduardo
Citro, Rodolfo
Hui, Dawn S
Bissell, Malenka M
Ballotti, Andrea
Foffa, Ilenia
Marco, Margot De
Caffarelli, Anthony
Weise, Rita
DeBacker, Julie
Mosquera, Laura Muiño
Cohen, Robbin
Subira, Laura Dos
Tretter, Justin T
Rotes, Anna Sabe
Caiazza, Martina
Ali, Lamia Ait
Pluchinotta, Francesca
Body, Simon C
EBAV Investigators
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_3147695409
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3147695409
Other Identifiers
ISSN
1355-6037,1468-201X
E-ISSN
1468-201X
DOI
10.1136/heartjnl-2024-324669
