Výsledky vyhledávání - Maria‐Mercè Garcia‐Barceló

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  1. 1
    Actionable secondary findings from whole-genome sequencing of 954 East Asians

    Actionable secondary findings from whole-genome sequencing of 954 East Asians Autor Clara Sze-Man Tang, Saloni Dattani, Man‐Ting So, Stacey S. Cherny, Paul Kwong Hang Tam, Pak C. Sham, María-Mercé García-Barceló

    Vydáno 2017
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  2. 2
    Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia

    Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia Autor Long Cui, Emily Hoi-Man Wong, Guo Cheng, Manoel Firmato de Almeida, Man-ting So, Pak C. Sham, Stacey S. Cherny, Paul Kwong-Hang Tam, Maria‐Mercè Garcia‐Barceló

    Vydáno 2013
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  3. 3
    A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma

    A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma Autor Esw Ngan, Brian Hung‐Hin Lang, Tingting Liu, Cathy K.Y. Shum, Man-Ting So, Danny Ko‐chun Lau, Thomas Y.Y. Leon, Stacey S. Cherny, Sophia Y. Tsai, Chung‐Yau Lo, US Khoo, Paul Tam, Maria‐Mercè Garcia‐Barceló

    Vydáno 2009
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  4. 4
    Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans

    Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans Autor Esw Ngan, María-Mercé García-Barceló, Benjamin Hon Kei Yip, Hiu-Ching Poon, Sin-Ting Lau, Carmen Ka-Man Kwok, Eric Wai Yin Sat, MH Sham, Kenneth Kak‐Yuen Wong, Brandon J. Wainwright, Stacey S. Cherny, Chi‐chung Hui, Pak C. Sham, Vincent Chi‐Hang Lui, Paul Kwong‐Hang Tam

    Vydáno 2011
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  5. 5
    Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese

    Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese Autor Emily H. M. Wong, Hon‐Cheong So, Miaoxin Li, Quang Wang, Amy W. Butler, Paul Basil, Hei-Man Wu, Tomy C.K. Hui, Siu-chung Choi, Man‐Ting So, María-Mercé García-Barceló, Gráinne McAlonan, Eric Chen, Eric F.C. Cheung, Raymond C. K. Chan, Shaun Purcell, Stacey S. Cherny, Ronald R.L. Chen, Tao Li, Pak C. Sham

    Vydáno 2013
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  6. 6
    Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

    Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism Autor Wai-Yee Lam, Clara Sze-Man Tang, Man‐Ting So, Haibing Yue, Jacob Shujui Hsu, Bhy Chung, John Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O’Callaghan, María-Mercé García-Barceló, So Lun Lee, Pak C. Sham, Vincent Chi‐Hang Lui, Paul Kwong‐Hang Tam

    Vydáno 2021
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  7. 7
    Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

    Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3 Autor Clara Sze-Man Tang, Guo Cheng, Man‐Ting So, Benjamin Hon Kei Yip, Xiaoping Miao, Emily Hoi-Man Wong, Esw Ngan, Vincent Chi‐Hang Lui, You‐Qiang Song, Danny Chan, Kmc Cheung, Zhenwei Yuan, Lei Liu, Bhy Chung, Xuelai Liu, Kenneth Kak‐Yuen Wong, Christian R. Marshall, Stephen W. Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong‐Hang Tam, María-Mercé García-Barceló

    Vydáno 2012
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  8. 8
    Fine Mapping of the NRG1 Hirschsprung's Disease Locus

    Fine Mapping of the NRG1 Hirschsprung's Disease Locus Autor Clara Sze-Man Tang, Wai-Kiu Tang, Man-Ting So, Xiaoping Miao, Brian Man-Chun Leung, Benjamin Hon Kei Yip, Thomas Yuk-Yu Leon, Esw Ngan, Vincent Chi‐Hang Lui, Yan Chen, Ivy Hau-Yee Chan, Bhy Chung, Xue-Lai Liu, Xuan-Zhao Wu, Kenneth Kak-Yuen Wong, Pak C. Sham, Stacey S. Cherny, Paul Kwong-Hang Tam, Maria‐Mercè Garcia‐Barceló

    Vydáno 2011
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  9. 9
    Genome-wide association study identifies <i>NRG1</i> as a susceptibility locus for Hirschsprung's disease

    Genome-wide association study identifies <i>NRG1</i> as a susceptibility locus for Hirschsprung's disease Autor María-Mercé García-Barceló, Clara Sze-Man Tang, Esw Ngan, Vincent Chi‐Hang Lui, Yan Chen, Man‐Ting So, Thomas Yuk-Yu Leon, Xiaoping Miao, Cathy K.Y. Shum, Fengqin Liu, Ming-Yiu Yeung, Zhenwei Yuan, Weihong Guo, Lei Liu, Xiao‐bing Sun, Liuming Huang, Jinfa Tou, You‐Qiang Song, Danny Chan, Kmc Cheung, Kenneth Kak‐Yuen Wong, Stacey S. Cherny, Pak C. Sham, Paul Kwong‐Hang Tam

    Vydáno 2009
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  10. 10
    Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

    Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2 Autor María-Mercé García-Barceló, Ming-Yiu Yeung, Xiaoping Miao, Clara Sze-Man Tang, Chen Guo, Man‐Ting So, Esw Ngan, Vincent Chi‐Hang Lui, Yan Chen, Xuelai Liu, Kenneth-Jeremy W. S. Hui, Long Li, Weihong Guo, Xiaobin Sun, Jinfa Tou, KW Chan, Xuan-Zhao Wu, You‐Qiang Song, Danny Chan, Kmc Cheung, Bhy Chung, Kenneth Kak‐Yuen Wong, Pak C. Sham, Stacey S. Cherny, Paul Kwong‐Hang Tam

    Vydáno 2010
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  11. 11
    <i>Trans</i>-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease

    <i>Trans</i>-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease Autor Clara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, Jeong‐Hyun Kim, Berta Luzón‐Toro, Anna Pelet, Grzegorz Burzynski, Francesca Lantieri, Man-Ting So, Courtney Berrios, Hyoung Doo Shin, Raquel M. Fernández, Thuy-Linh Le, Joanne Verheij, Ivana Matera, Stacey S. Cherny, Priyanka Nandakumar, Hyun Sub Cheong, Guillermo Antiñolo, Jeanne Amiel, Jeong-Meen Seo, Dae Yeon Kim, Jung-Tak Oh, Stanislas Lyonnet, Salud Borrego, Isabella Ceccherini, Robert M.W. Hofstra, Aravinda Chakravarti, Hyun‐Young Kim, Pak C. Sham, Paul Tam, Maria‐Mercè Garcia‐Barceló

    Vydáno 2016
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  12. 12
    Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

    Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes Autor Hongsheng Gui, Duco Schriemer, William Cheng, Rajendra Chauhan, Guillermo Antiñolo, Courtney Berrios, Marta Bleda, Alice S. Brooks, Rutger W. W. Brouwer, Alan J. Burns, Stacey S. Cherny, Joaquı́n Dopazo, Bart J. L. Eggen, Paola Griseri, Binta Jalloh, Thuy-Linh Le, Vincent Chi Hang Lui, Berta Luzón‐Toro, Ivana Matera, Esw Ngan, Anna Pelet, Macarena Ruiz‐Ferrer, Pak C. Sham, Iain T. Shepherd, Man-Ting So, Yunia Sribudiani, Clara Sze-Man Tang, Mirjam C. G. N. van den Hout, Herma C. van der Linde, Tjakko J. van Ham, Wilfred F. J. van IJcken, Joanne Verheij, Jeanne Amiel, Salud Borrego, Isabella Ceccherini, Aravinda Chakravarti, Stanislas Lyonnet, Paul Kwong Hang Tam, Maria‐Mercè Garcia‐Barceló, Robert M.W. Hofstra

    Vydáno 2017
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  13. 13
    Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

    Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians Autor Wanling Yang, Huayang Tang, Yan Zhang, Xianfa Tang, Jing Zhang, Liangdan Sun, Jing Yang, Yong Cui, Lu Zhang, Nattiya Hirankarn, Hui Cheng, Hai‐Feng Pan, Jinping Gao, Tsz Leung Lee, Yujun Sheng, Chak Sing Lau, Li Yang, Tak Mao Chan, Xianyong Yin, Dingge Ying, Qianjin Lu, Alexander Moon Ho Leung, Xianbo Zuo, Xiang Chen, Kwok Lung Tong, Fusheng Zhou, Qingchun Diao, Niko Kei Chiu Tse, Hongfu Xie, Chi Chiu Mok, Fei Hao, Sik Nin Wong, Bingjun Shi, Ka Wing Lee, Yan Hui, M. Ho, Bo Liang, Pamela Lee, Hongzhou Cui, Qing Guo, Brian Hon‐Yin Chung, Xiong-ming Pu, Qiji Liu, Xiaoguang Zhang, Change Zhang, Chun Yin Chong, Hong Fang, Raymond Woon Sing Wong, Yonghu Sun, Mo Yin Mok, Xiang-Pei Li, Yingyos Avihingsanon, Zhifang Zhai, Pornpimol Rianthavorn, Thavatchai Deekajorndej, Kanya Suphapeetiporn, Fei Gao, Vorasuk Shotelersuk, Xiaojing Kang, Shirley King Yee Ying, Lijuan Zhang, Wilfred Hing Sang Wong, Dingxian Zhu, Samuel Fung, Fanqin Zeng, Wai Ming Lai, Chun‐Ming Wong, Irene Oi‐Lin Ng, Maria‐Mercè Garcia‐Barceló, Stacey S. Cherny, Nan Shen, Paul Kwong‐Hang Tam, Pak C. Sham, Dong‐Qing Ye, Sen Yang, Xuejun Zhang, YL Lau

    Vydáno 2012
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