Bibliotecas PUC-SP - Busca Integrada

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

由 Rachel E Towers, Leonardo Murgiano, David S Millar, Elise Glen, Ana Topf, Vidhya Jagannathan, Cord Drögemüller, Judith A Goodship, Angus J Clarke, Tosso Leeb
發表在 PLoS ONE (2013-01-01)

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

由 Lucy V Holmes, Lisa Strain, Scott J Staniforth, Iain Moore, Kevin Marchbank, David Kavanagh, Judith A Goodship, Heather J Cordell, Timothy H J Goodship
發表在 PLoS ONE (2013-01-01)

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

由 Peter F Zipfel, Matthew Edey, Stefan Heinen, Mihály Józsi, Heiko Richter, Joachim Misselwitz, Bernd Hoppe, Danny Routledge, Lisa Strain, Anne E Hughes, Judith A Goodship, Christoph Licht, Timothy H J Goodship, Christine Skerka
發表在 PLoS Genetics (2007-03-01)

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

由 Ana Töpf, Helen R Griffin, Elise Glen, Rachel Soemedi, Danielle L Brown, Darroch Hall, Thahira J Rahman, Jyrki J Eloranta, Christoph Jüngst, A Graham Stuart, John O'Sullivan, Bernard D Keavney, Judith A Goodship
發表在 PLoS ONE (2014-01-01)

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

由 Julian P Venables, Lisa Strain, Danny Routledge, David Bourn, Helen M Powell, Paul Warwicker, Martha L Diaz-Torres, Anne Sampson, Paul Mead, Michelle Webb, Yves Pirson, Michael S Jackson, Anne Hughes, Katrina M Wood, Judith A Goodship, Timothy H J Goodship
發表在 PLoS Medicine (2006-10-01)

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

由 Helen R Griffin, Darroch H Hall, Ana Topf, James Eden, A Graham Stuart, Jonathan Parsons, Ian Peart, John E Deanfield, John O'Sullivan, Sonya V Babu-Narayan, Michael A Gatzoulis, Frances A Bu'lock, Shoumo Bhattacharya, Jamie Bentham, Martin Farrall, Javier Granados Riveron, J David Brook, John Burn, Heather J Cordell, Judith A Goodship, Bernard Keavney
發表在 PLoS ONE (2009-01-01)

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

由 Bo Yang, Wei Zhou, Jiao Jiao, Jonas B. Nielsen, Michael R. Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A. Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M. Isselbacher, Anders Franco-Cereceda, Dong-chuan Guo, Erwin P. Bottinger, G. Michael Deeb, Anna Booher, Sachin Kheterpal, Y. Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J. Cordell, Bernard D. Keavney, Judith A. Goodship, Santhi K. Ganesh, Gonçalo Abecasis, Kim A. Eagle, Alan P. Boyle, Ruth J. F. Loos, Per Eriksson, Jean-Claude Tardif, Chad M. Brummett, Dianna M. Milewicz, Simon C. Body, Cristen J. Willer
發表在 Nature Communications (2017-05-01)