Transporting babies with known heart disease; who, what and where?

Por Bu'Lock, Frances A
Publicado em 2007

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Por Granados-Riveron, Javier T, Pope, Mark, Bu'Lock, Frances A, Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P, Fatkin, Diane, Feneley, Michael P, Harvey, Richard P, Brook, J David
Publicado em 2012

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

Por Palomino Doza, Julian, Topf, Ana, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J David, Granados-Riveron, Javier, Bu’Lock, Frances A, O’Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Relton, Caroline, Goodship, Judith, Henderson, Deborah J, Keavney, Bernard
Publicado em 2013

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

Por Goodship, Judith A., Hall, Darroch, Topf, Ana, Mamasoula, Chrysovalanto, Griffin, Helen, Rahman, Thahira J., Glen, Elise, Tan, Huay, Doza, Julian Palomino, Relton, Caroline L., Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, David, Granados-Riveron, Javier, Bu’Lock, Frances A., O’Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Cordell, Heather J., Keavney, Bernard
Publicado no Circ Cardiovasc Genet (2012)

Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation

Por Griffin, Helen R., Hall, Darroch H., Topf, Ana, Eden, James, Stuart, A. Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John E., O'Sullivan, John, Babu-Narayan, Sonya V., Gatzoulis, Michael A., Bu'Lock, Frances A., Bhattacharya, Shoumo, Bentham, Jamie, Farrall, Martin, Granados Riveron, Javier, Brook, J. David, Burn, John, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard
Publicado em 2009

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Por Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., Goodship, Judith A.
Publicado em 2013

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado em 2014

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado em 2014

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Louw, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado no Am J Hum Genet (2016)

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Por Cordell, Heather J., Bentham, Jamie, Topf, Ana, Zelenika, Diana, Heath, Simon, Mamasoula, Chrysovalanto, Cosgrove, Catherine, Blue, Gillian, Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Breckpot, Jeroen, Soemedi, Rachel, Martin, Ruairidh, Rahman, Thahira J., Hall, Darroch, van Engelen, Klaartje, Moorman, Antoon F.M., Zwinderman, Aelko H, Barnett, Phil, Koopmann, Tamara T., Adriaens, Michiel E., Varro, Andras, George, Alfred L., dos Remedios, Christobal, Bishopric, Nanette H., Bezzina, Connie R., O’Sullivan, John, Gewillig, Marc, Bu’Lock, Frances A., Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koen, Brook, J. David, Mulder, Barbara J.M., Mital, Seema, Postma, Alex V., Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Keavney, Bernard D.
Publicado em 2013

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls

Por Mamasoula, Chrysovalanto, Prentice, R. Reid, Pierscionek, Tomasz, Pangilinan, Faith, Mills, James L., Druschel, Charlotte, Pass, Kenneth, Russell, Mark W., Hall, Darroch, Töpf, Ana, Brown, Danielle L., Zelenika, Diana, Bentham, Jamie, Cosgrove, Catherine, Bhattacharya, Shoumo, Riveron, Javier Granados, Setchfield, Kerry, Brook, J. David, Bu'Lock, Frances A., Thornborough, Chris, Rahman, Thahira J., Doza, Julian Palomino, Tan, Huay L., O'Sullivan, John, Stuart, A. Graham, Blue, Gillian, Winlaw, David, Postma, Alex V., Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Moorman, Antoon F.M., Rauch, Anita, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Cordell, Heather J., Brody, Lawrence C., Keavney, Bernard D.
Publicado em 2013

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Por Hanchard, Neil A., Swaminathan, Shanker, Bucasas, Kristine, Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid S., Wang, Xueqing, Lewin, Mark, Towbin, Jeffrey A., D'Alessandro, Lisa C.A., Morris, Shaine A., Dreyer, William, Denfield, Susan, Ayres, Nancy A., Franklin, Wayne J., Justino, Henri, Lantin-Hermoso, M. Regina, Ocampo, Elena C., Santos, Alexia B., Parekh, Dhaval, Moodie, Douglas, Jeewa, Aamir, Lawrence, Emily, Allen, Hugh D., Penny, Daniel J., Fraser, Charles D., Lupski, James R., Popoola, Mojisola, Wadhwa, Lalita, Brook, J. David, Bu'Lock, Frances A., Bhattacharya, Shoumo, Lalani, Seema R., Zender, Gloria A., Fitzgerald-Butt, Sara M., Bowman, Jessica, Corsmeier, Don, White, Peter, Lecerf, Kelsey, Zapata, Gladys, Hernandez, Patricia, Goodship, Judith A., Garg, Vidu, Keavney, Bernard D., Leal, Suzanne M., Cordell, Heather J., Belmont, John W., McBride, Kim L.
Publicado no Hum Mol Genet (2016)