Search Results - Carine Bonnard

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  1. 1

    Protocol to reconstruct an in vitro 3D full-thickness skin equivalent model with collagen I in 6- and 12-well inserts by Khek-Chian Tham, Seong Soo Lim, Carine Bonnard, John E.A. Common

    Published in STAR Protocols (2025-03-01)
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  2. 2

    Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis by Jumana Albaramki, Haitham Dmour, Mohammad Shboul, Carine Bonnard, Byrappa Venkatesh, Rasha Odeh

    Published in The Turkish Journal of Pediatrics (2019-02-01)
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  3. 3

    Novel CYCLIN‐O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia by Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker‐Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade

    Published in Respirology Case Reports (2024-11-01)
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  4. 4

    Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly by Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake

    Published in BMC Medical Genetics (2018-07-01)
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  5. 5

    Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk. by Kristjana Einarsdóttir, Keith Humphreys, Carine Bonnard, Juni Palmgren, Mark M Iles, Arvid Sjölander, Yuqing Li, Kee Seng Chia, Edison T Liu, Per Hall, Jianjun Liu, Sara Wedrén

    Published in PLoS Medicine (2006-06-01)
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  6. 6

    Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility. by Yen Ling Low, Yuqing Li, Keith Humphreys, Anbupalam Thalamuthu, Yi Li, Hatef Darabi, Sara Wedrén, Carine Bonnard, Kamila Czene, Mark M Iles, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlinna, Per Hall, Edison T Liu, Jianjun Liu

    Published in PLoS Genetics (2010-07-01)
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  7. 7

    A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects by Geetika Sahni, Shu‐Yung Chang, Jeremy Teo Choon Meng, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi‐Chin Toh

    Published in Advanced Science (2021-03-01)
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  8. 8

    Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis. by Sonia Davila, Martin L Hibberd, Ranjeeta Hari Dass, Hazel E E Wong, Edhyana Sahiratmadja, Carine Bonnard, Bachti Alisjahbana, Jeffrey S Szeszko, Yanina Balabanova, Francis Drobniewski, Reinout van Crevel, Esther van de Vosse, Sergey Nejentsev, Tom H M Ottenhoff, Mark Seielstad

    Published in PLoS Genetics (2008-10-01)
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  9. 9

    A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. by David Burgner, Sonia Davila, Willemijn B Breunis, Sarah B Ng, Yi Li, Carine Bonnard, Ling Ling, Victoria J Wright, Anbupalam Thalamuthu, Miranda Odam, Chisato Shimizu, Jane C Burns, Michael Levin, Taco W Kuijpers, Martin L Hibberd, International Kawasaki Disease Genetics Consortium

    Published in PLoS Genetics (2009-01-01)
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  10. 10

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability by Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade

    Published in eLife (2018-05-01)
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  11. 11

    A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing by Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade

    Published in EMBO Molecular Medicine (2023-01-01)
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