檢索結果 - Gavin Chapman
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Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease 由 Morgan Newman, Lachlan Wilson, Giuseppe Verdile, Anne Lim, Imran Khan, Seyyed Hani Moussavi Nik, Sharon E. Pursglove, Gavin Chapman, Ralph N. Martins, Michael Lardelli
出版 2013Artigo -
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Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype 由 Duncan B. Sparrow, Gavin Chapman, Merridee A. Wouters, Neil V. Whittock, Sian Ellard, Diane Fatkin, Peter D. Turnpenny, Kenro Kusumi, Daniel J. Sillence, Sally L. Dunwoodie
出版 2005Artigo -
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Gestational stress induces the unfolded protein response, resulting in heart defects 由 Hongjun Shi, Victoria C. O׳Reilly, Julie Moreau, Therese R. Bewes, Michelle Yam, Bogdan E. Chapman, Stuart M. Grieve, Roland Stocker, Robert M. Graham, Gavin Chapman, Duncan B. Sparrow, Sally L. Dunwoodie
出版 2016Artigo -
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A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis 由 Duncan B. Sparrow, Gavin Chapman, Allanceson Smith, Muhammad Z. Mattar, Joelene Major, Victoria C. O׳Reilly, Yumiko Saga, Elaine H. Zackai, John P. Dormans, Benjamin A. Alman, Lesley McGregor, Ryoichiro Kageyama, Kenro Kusumi, Sally L. Dunwoodie
出版 2012Artigo -
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Gene-environment interaction impacts on heart development and embryo survival 由 Julie Moreau, Scott Kesteven, Ella MMA Martin, Kin S. Lau, Michelle Yam, Victoria C. O׳Reilly, Gonzalo del Monte‐Nieto, Antonio Baldini, Michael P. Feneley, Anne Moon, Richard P. Harvey, Duncan B. Sparrow, Gavin Chapman, Sally L. Dunwoodie
出版 2019Artigo -
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Novel role for endogenous mitochondrial formylated peptide-driven formyl peptide receptor 1 signalling in acute respiratory distress syndrome 由 David A. Dorward, Christopher D. Lucas, Mary K. Doherty, Gavin Chapman, Emma Scholefield, Andrew Conway Morris, Jennifer M. Felton, Tiina Kipari, Duncan C. Humphries, Calum T. Robb, A. John Simpson, Phillip D. Whitfield, Christopher Haslett, Kevin Dhaliwal, Adriano G. Rossi
出版 2017Artigo -
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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders 由 Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie
出版 2019Artigo -
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NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets 由 Romaric Bouveret, Ashley J. Waardenberg, Nicole Schönrock, Mirana Ramialison, Tram B. Doan, Daniëlle de Jong, Antoine Bondue, Gurpreet Kaur, Stephanie Mohamed, Hananeh Fonoudi, C.M. Chen, Merridee A. Wouters, Shoumo Bhattacharya, Nicolas Plachta, Sally L. Dunwoodie, Gavin Chapman, Cédric Blanpain, Richard P. Harvey
出版 2015Artigo -
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A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data 由 Justin O. Szot, Hartmut Cuny, Gillian M. Blue, David T. Humphreys, Eddie Ip, Katrina Harrison, Gary F. Sholler, Eleni Giannoulatou, Paul Leo, Emma L. Duncan, Duncan B. Sparrow, Joshua W. K. Ho, Robert M. Graham, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Sally L. Dunwoodie
出版 2018Artigo -
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Identification of clinically actionable variants from genome sequencing of families with congenital heart disease 由 Dimuthu Alankarage, Eddie Ip, Justin O. Szot, Jacob E. Munro, Gillian M. Blue, Katrina Harrison, Hartmut Cuny, Annabelle Enriquez, Michael Troup, David T. Humphreys, Meredith Wilson, Richard P. Harvey, Gary F. Sholler, Robert M. Graham, Joshua W. K. Ho, Edwin P. Kirk, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie
出版 2018Artigo -
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Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants 由 Gavin Chapman, Julie Moreau, I P Eddie, Justin O. Szot, Kavitha R. Iyer, Hongjun Shi, Michelle Yam, Victoria C. O׳Reilly, Annabelle Enriquez, Joelene A Greasby, Dimuthu Alankarage, Ella MMA Martin, Bernadette Hanna, Matthew Edwards, Steven Monger, Gillian M. Blue, David S. Winlaw, Helen E. Ritchie, Stuart M. Grieve, Eleni Giannoulatou, Duncan B. Sparrow, Sally L. Dunwoodie
出版 2019Artigo
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NAD+ kinase