Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Chris Thornborough"'
Autor:
Judith A. Goodship, Jamie Bentham, Jeroen Breckpot, Rebecca Darlay, Ana Töpf, Elise Glen, Shoumo Bhattacharya, Darroch Hall, Frances A. Bu'Lock, Mark Lathrop, Bernard Keavney, Catherine Cosgrove, Rachel Soemedi, Mauro Santibanez-Koref, Chris Thornborough, Matthew E. Hurles, Michael Hofbeck, J. David Brook, Heather J. Cordell, Thahira Rahman, Ni Huang, Koenraad Devriendt, Anita Rauch, Gillian M. Blue, Ian J. Wilson, Javier T. Granados-Riveron, Kerry Setchfield, David S. Winlaw
Publikováno v:
Human Molecular Genetics
Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475341c08aec81dabf74845a2ef688cf
http://doc.rero.ch/record/299498/files/ddr589.pdf
http://doc.rero.ch/record/299498/files/ddr589.pdf
Autor:
Rebecca Darlay, Marc Gewillig, Chrysovalanto Mamasoula, Ian J. Wilson, David S. Winlaw, J. David Brook, Heather J. Cordell, Anita Rauch, Shoumo Bhattacharya, Simon Zwolinkski, Ana Töpf, Jamie Bentham, Bernard Keavney, Elise Glen, Gillian M. Blue, Frances A. Bu'Lock, Koenraad Devriendt, Judith A. Goodship, Mark Lathrop, Catherine Cosgrove, John O’ Sullivan, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Mauro Santibanez-Koref, Diana Zelenika, Kerry Setchfield, Thahira Rahman, Stephen Hellens, Darroch Hall, Javier T. Granados-Riveron
Publikováno v:
The American Journal of Human Genetics; Vol 91
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart disease (CHD) remains incompletely define
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62d9ed7954018e526134e749af7c097
https://doi.org/10.1016/j.ajhg.2012.08.003
https://doi.org/10.1016/j.ajhg.2012.08.003
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
Autor:
Judith A. Goodship, Frances A. Bu'Lock, Alex V. Postma, Jeroen Breckpot, A. H. Zwinderman, Chris Thornborough, J. David Brook, Heather J. Cordell, Anita Rauch, Bernard Keavney, Chrysovalanto Mamasoula, G. Mark Lathrop, Catherine Cosgrove, Diana Zelenika, Shoumo Bhattacharya, Jamie Bentham, Jonathan M. Parsons, Klaartje van Engelen, David S. Winlaw, Seema Mital, Ana Töpf, Antoon F.M. Moorman, Gillian M. Blue, Rachel Soemedi, Kristin L. Ayers, Thahira Rahman, Simon Heath, Marc Gewillig, Rebecca Darlay, Kerry Setchfield, Darroch Hall, Javier Granados Riveron, A Graham Stuart, Ian J. Wilson, Barbara J.M. Mulder, John O'Sullivan, Koenraad Devriendt
Publikováno v:
Human Molecular Genetics, 22(7):dds552, 1473-1481. Oxford University Press
Human Molecular Genetics; Vol 22
Cordell, H J, Töpf, A, Mamasoula, C, Postma, A V, Bentham, J, Zelenika, D, Heath, S, Blue, G, Cosgrove, C, Granados riveron, J, Darlay, R, Soemedi, R, Wilson, I J, Ayers, K L, Rahman, T J, Hall, D, Mulder, B J M, Zwinderman, A H, Van engelen, K, Brook, J D, Setchfield, K, Bu'lock, F A, Thornborough, C, O'sullivan, J, Stuart, A G, Parsons, J, Bhattacharya, S, Winlaw, D, Mital, S, Gewillig, M, Breckpot, J, Devriendt, K, Moorman, A F M, Rauch, A, Lathrop, G M, Keavney, B D & Goodship, J A 2013, ' Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot ', Human Molecular Genetics, vol. 22, no. 7, dds552, pp. 1473-1481 . https://doi.org/10.1093/hmg/dds552
Human Molecular Genetics
Human molecular genetics, 22(7), 1473-1481. Oxford University Press
Human Molecular Genetics; Vol 22
Cordell, H J, Töpf, A, Mamasoula, C, Postma, A V, Bentham, J, Zelenika, D, Heath, S, Blue, G, Cosgrove, C, Granados riveron, J, Darlay, R, Soemedi, R, Wilson, I J, Ayers, K L, Rahman, T J, Hall, D, Mulder, B J M, Zwinderman, A H, Van engelen, K, Brook, J D, Setchfield, K, Bu'lock, F A, Thornborough, C, O'sullivan, J, Stuart, A G, Parsons, J, Bhattacharya, S, Winlaw, D, Mital, S, Gewillig, M, Breckpot, J, Devriendt, K, Moorman, A F M, Rauch, A, Lathrop, G M, Keavney, B D & Goodship, J A 2013, ' Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot ', Human Molecular Genetics, vol. 22, no. 7, dds552, pp. 1473-1481 . https://doi.org/10.1093/hmg/dds552
Human Molecular Genetics
Human molecular genetics, 22(7), 1473-1481. Oxford University Press
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10-7) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710209bb65c9f34a934d4a11de68b023
https://research.vumc.nl/en/publications/d0adc6e5-90b0-4738-8ab7-5dc4e0ce3832
https://research.vumc.nl/en/publications/d0adc6e5-90b0-4738-8ab7-5dc4e0ce3832
Autor:
Jamie Bentham, Tomasz Pierscionek, Jeroen Breckpot, Klaartje van Engelen, Antoon F.M. Moorman, Kerry Setchfield, Marc Gewillig, Catherine Cosgrove, Faith Pangilinan, Shoumo Bhattacharya, G. Mark Lathrop, Koenraad Devriendt, James L. Mills, R Reid Prentice, Lawrence C. Brody, Frances A. Bu'Lock, Barbara J.M. Mulder, Danielle L. Brown, Martin Farrall, Mark W. Russell, Chris Thornborough, Javier Granados Riveron, Kenneth A. Pass, Gillian M. Blue, Alex V. Postma, A. H. Zwinderman, Judith A. Goodship, Darroch Hall, David S. Winlaw, John O'Sullivan, Chrysovalanto Mamasoula, Bernard Keavney, Charlotte M. Druschel, A Graham Stuart, Diana Zelenika, J. David Brook, Thahira Rahman, Heather J. Cordell, Anita Rauch, Ana Töpf, Huay Lin Tan, Julian Palomino Doza
Publikováno v:
Circulation. Cardiovascular genetics, 6(4), 347-353. Lippincott Williams and Wilkins
Circulation: Cardiovascular Genetics; Vol 6
Circulation: Cardiovascular Genetics, 6(4), 347-353. Lippincott Williams and Wilkins
Mamasoula, C, Prentice, R R, Pierscionek, T, Pangilinan, F, Mills, J L, Druschel, C, Pass, K, Russell, M W, Hall, D, Töpf, A, Brown, D L, Zelenika, D, Bentham, J, Cosgrove, C, Bhattacharya, S, Riveron, J G, Setchfield, K, Brook, J D, Bu'Lock, F A, Thornborough, C, Rahman, T J, Doza, J P, Tan, H L, O'Sullivan, J, Stuart, A G, Blue, G, Winlaw, D, Postma, A V, Mulder, B J M, Zwinderman, A H, Van Engelen, K, Moorman, A F M, Rauch, A, Gewillig, M, Breckpot, J, Devriendt, K, Lathrop, G M, Farrall, M, Goodship, J A, Cordell, H J, Brody, L C & Keavney, B D 2013, ' Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease : Meta-analysis of 7697 cases and 13 125 controls ', Circulation: Cardiovascular Genetics, vol. 6, no. 4, pp. 347-353 . https://doi.org/10.1161/CIRCGENETICS.113.000191
Circulation: Cardiovascular Genetics; Vol 6
Circulation: Cardiovascular Genetics, 6(4), 347-353. Lippincott Williams and Wilkins
Mamasoula, C, Prentice, R R, Pierscionek, T, Pangilinan, F, Mills, J L, Druschel, C, Pass, K, Russell, M W, Hall, D, Töpf, A, Brown, D L, Zelenika, D, Bentham, J, Cosgrove, C, Bhattacharya, S, Riveron, J G, Setchfield, K, Brook, J D, Bu'Lock, F A, Thornborough, C, Rahman, T J, Doza, J P, Tan, H L, O'Sullivan, J, Stuart, A G, Blue, G, Winlaw, D, Postma, A V, Mulder, B J M, Zwinderman, A H, Van Engelen, K, Moorman, A F M, Rauch, A, Gewillig, M, Breckpot, J, Devriendt, K, Lathrop, G M, Farrall, M, Goodship, J A, Cordell, H J, Brody, L C & Keavney, B D 2013, ' Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease : Meta-analysis of 7697 cases and 13 125 controls ', Circulation: Cardiovascular Genetics, vol. 6, no. 4, pp. 347-353 . https://doi.org/10.1161/CIRCGENETICS.113.000191
Background— Association between the C677T polymorphism of the methylene tetrahydrofolate reductase ( MTHFR ) gene and congenital heart disease (CHD) is contentious. Methods and Results— We compared genotypes between CHD cases and controls and bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142eb8f9ba01d94e70d20edc760cea3c
https://doi.org/10.5167/uzh-88189
https://doi.org/10.5167/uzh-88189
Autor:
Frances A. Bu'Lock, Chris Thornborough, Shoumo Bhattacharya, Antoon F.M. Moorman, Marc Gewillig, Catherine Cosgrove, Judith A. Goodship, Klaartje van Engelen, Christobal Dos Remedios, Thahira Rahman, Ana Töpf, Phil Barnett, Connie R. Bezzina, G Mark Lathrop, Jeroen Breckpot, Tamara T. Koopmann, Michiel E. Adriaens, Koenraad Devriendt, Gillian M. Blue, Bernard Keavney, Barbara J.M. Mulder, Darroch Hall, Alfred L. George, J. David Brook, Heather J. Cordell, Jamie Bentham, Nanette H. Bishopric, John O'Sullivan, Ruairidh Martin, Alex V. Postma, A. H. Zwinderman, Martin Farrall, Diana Zelenika, Simon Heath, Seema Mital, Rachel Soemedi, David S. Winlaw, Kerry Setchfield, Javier T. Granados-Riveron, András Varró, Chrysovalanto Mamasoula
Publikováno v:
Nature genetics
Cordell, H J, Bentham, J, Topf, A, Zelenika, D, Heath, S, Mamasoula, C, Cosgrove, C, Blue, G, Granados-Riveron, J, Setchfield, K, Thornborough, C, Breckpot, J, Soemedi, R, Martin, R, Rahman, T J, Hall, D, Van Engelen, K, Moorman, A F M, Zwinderman, A H, Barnett, P, Koopmann, T T, Adriaens, M E, Varro, A, George, A L, Dos Remedios, C, Bishopric, N H, Bezzina, C R, O'Sullivan, J, Gewillig, M, Bu'Lock, F A, Winlaw, D, Bhattacharya, S, Devriendt, K, Brook, J D, Mulder, B J M, Mital, S, Postma, A V, Lathrop, G M, Farrall, M, Goodship, J A & Keavney, B D 2013, ' Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 ', Nature Genetics, vol. 45, no. 7, pp. 822-824 . https://doi.org/10.1038/ng.2637
Nature Genetics, 45(7), 822-824. Nature Publishing Group
Nature genetics, 45(7), 822-824. Nature Publishing Group
Nature Genetics; Vol 45
Cordell, H J, Bentham, J, Topf, A, Zelenika, D, Heath, S, Mamasoula, C, Cosgrove, C, Blue, G, Granados-Riveron, J, Setchfield, K, Thornborough, C, Breckpot, J, Soemedi, R, Martin, R, Rahman, T J, Hall, D, Van Engelen, K, Moorman, A F M, Zwinderman, A H, Barnett, P, Koopmann, T T, Adriaens, M E, Varro, A, George, A L, Dos Remedios, C, Bishopric, N H, Bezzina, C R, O'Sullivan, J, Gewillig, M, Bu'Lock, F A, Winlaw, D, Bhattacharya, S, Devriendt, K, Brook, J D, Mulder, B J M, Mital, S, Postma, A V, Lathrop, G M, Farrall, M, Goodship, J A & Keavney, B D 2013, ' Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 ', Nature Genetics, vol. 45, no. 7, pp. 822-824 . https://doi.org/10.1038/ng.2637
Nature Genetics, 45(7), 822-824. Nature Publishing Group
Nature genetics, 45(7), 822-824. Nature Publishing Group
Nature Genetics; Vol 45
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of the 3 major clinical CHD categories (with septal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9773afd754b575ab00f1b94a867e2a
https://pubmed.ncbi.nlm.nih.gov/23708191
https://pubmed.ncbi.nlm.nih.gov/23708191
Autor:
Kerry Setchfield, Sebastian S. Gerety, Catherine Cosgrove, Shoumo Bhattacharya, Okan Toka, Hashim Abdul-Khaliq, David I. Wilson, Anne-Karin Arndt, Jamie Bentham, Bernard Thienpont, Ashok K. Manickaraj, Koen Devriendt, G. Jawahar Swaminathan, Seema Mital, Ita O'Kelly, Javier T. Granados-Riveron, Catherine L. Mercer, Anneke Lucassen, Marc-Phillip Hitz, Hans-Heiner Kramer, Jacoba Low, Kirstin Hoff, Sabine Klaassen, Stephan Schubert, Reiner Siebert, Lisa C.A. D'Alessandro, Christine Harnack, Hugh Watkins, David R. FitzPatrick, Marc Gewillig, Saeed Al Turki, Barbara J.M. Mulder, J. David Brook, Sarah J. Lindsay, Jeroen Breckpot, Matthew E. Hurles, Frances A. Bu'Lock, Anthony P. Salmon, Chris Thornborough
Publikováno v:
American journal of human genetics, 94(4), 574-585. Cell Press
Al Turki, S, Manickaraj, A K, Mercer, C L, Gerety, S S, Hitz, M-P, Lindsay, S, D'Alessandro, L C A, Swaminathan, G J, Bentham, J, Arndt, A-K, Low, J, Breckpot, J, Gewillig, M, Thienpont, B, Abdul-Khaliq, H, Harnack, C, Hoff, K, Kramer, H-H, Schubert, S, Siebert, R, Toka, O, Cosgrove, C, Watkins, H, Lucassen, A M, O'Kelly, I M, Salmon, A P, Bu'lock, F A, Granados-Riveron, J, Setchfield, K, Thornborough, C, Brook, J D, Mulder, B, Klaassen, S, Bhattacharya, S, Devriendt, K, Fitzpatrick, D F, Wilson, D I & Mital, S & Hurles, M E 2014, ' Rare variants in NR2F2 cause congenital heart defects in humans ', American Journal of Human Genetics, vol. 94, no. 4, pp. 574-85 . https://doi.org/10.1016/j.ajhg.2014.03.007
Al Turki, S, Manickaraj, A K, Mercer, C L, Gerety, S S, Hitz, M-P, Lindsay, S, D'Alessandro, L C A, Swaminathan, G J, Bentham, J, Arndt, A-K, Low, J, Breckpot, J, Gewillig, M, Thienpont, B, Abdul-Khaliq, H, Harnack, C, Hoff, K, Kramer, H-H, Schubert, S, Siebert, R, Toka, O, Cosgrove, C, Watkins, H, Lucassen, A M, O'Kelly, I M, Salmon, A P, Bu'lock, F A, Granados-Riveron, J, Setchfield, K, Thornborough, C, Brook, J D, Mulder, B, Klaassen, S, Bhattacharya, S, Devriendt, K, Fitzpatrick, D F, Wilson, D I & Mital, S & Hurles, M E 2014, ' Rare variants in NR2F2 cause congenital heart defects in humans ', American Journal of Human Genetics, vol. 94, no. 4, pp. 574-85 . https://doi.org/10.1016/j.ajhg.2014.03.007
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f68ebb9b73fe8f3ab3127980aa9d22f