Search Results - Garcia-Barcelo, Maria-Mercè

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  1. 1
    Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population

    Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population by Miao, Xiaoping, Garcia‐Barceló, Maria‐Mercè, So, Man‐ting, Yuk‐yu Leon, Thomas, Ko‐chun Lau, Danny, Liu, Ting‐Ting, Kin‐Wai Chan, Edwin, Chuen‐Leung Lan, Lawrence, Kak‐yuen Wong, Kenneth, Chi‐hang Lui, Vincent, Kwong‐hang Tam, Paul, Garcia‐Barceló, Maria‐Mercè, Kwong‐hang Tam, Paul

    Published 2007
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  2. 2
    Cost effective assay choice for rare disease study designs

    Cost effective assay choice for rare disease study designs by Campbell, Desmond D, Porsch, Robert M, Cherny, Stacey S, Capra, Valeria, Merello, Elisa, De Marco, Patrizia, Sham, Pak C, Garcia-Barceló, Maria-Mercè

    Published 2015
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  3. 3
    AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins

    AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins by Garcia-Barceló, Maria-Mercè, Wong, John Kwong Leong, Ngo, Ngoc Diem, Tran, Ngoc Son, Nguyen, Thanh Liem, Nguyen, Liem, Sham, Pak, Cherny, Stacey, Tam, Paul

    Published 2015
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  4. 4
    Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype

    Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype by Cheng, William Wai-Chun, Tang, Clara Sze-Man, Gui, Hong-Sheng, So, Man-Ting, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè

    Published 2015
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  5. 5
    Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

    Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis by Cheng, Guo, Chung, Patrick Ho-Yu, Chan, Edwin Kin-Wai, So, Man-Ting, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

    Published 2017
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  6. 6
    Gene Network Analysis of Candidate Loci for Human Anorectal Malformations

    Gene Network Analysis of Candidate Loci for Human Anorectal Malformations by Wong, Emily H. M., Ng, Chun-Laam, Lui, Vincent Chi-Hang, So, Man-ting, Cherny, Stacey S., Sham, Pak-Chung, Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

    Published 2013
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  7. 7
    Conditional deletion of platelet derived growth factor receptor alpha (Pdgfra) in urorectal mesenchyme causes mesenchyme apoptosis and urorectal developmental anomalies in mice

    Conditional deletion of platelet derived growth factor receptor alpha (Pdgfra) in urorectal mesenchyme causes mesenchyme apoptosis and urorectal developmental anomalies in mice by Qian, Chen, Wu, Zhongluan, Ng, Roy Chun-Laam, Garcia-Barceló, Maria-Mercè, Yuan, Zheng-Wei, Wong, Kenneth Kak Yuen, Tam, Paul Kwong Hang, Lui, Vincent Chi Hang

    Published 2018
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  8. 8
    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 by Cui, Long, Wong, Emily Hoi-Man, Cheng, Guo, Firmato de Almeida, Manoel, So, Man-Ting, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

    Published 2013
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  9. 9
    Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population

    Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population by Cornes, Belinda K., Tang, Clara S., Leon, Thomas Y. Y., Hui, Kenneth J. W. S., So, Man-Ting, Miao, Xiaoping, Cherny, Stacey S., Sham, Pak C., Tam, Paul K. H., Garcia-Barcelo, Maria-Merce

    Published 2010
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  10. 10
    Sacral agenesis: a pilot whole exome sequencing and copy number study

    Sacral agenesis: a pilot whole exome sequencing and copy number study by Porsch, Robert M., Merello, Elisa, De Marco, Patrizia, Cheng, Guo, Rodriguez, Laura, So, Manting, Sham, Pak C., Tam, Paul K., Capra, Valeria, Cherny, Stacey S., Garcia-Barcelo, Maria-Mercè, Campbell, Desmond D.

    Published 2016
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  11. 11
    A random forest-based framework for genotyping and accuracy assessment of copy number variations

    A random forest-based framework for genotyping and accuracy assessment of copy number variations by Zhuang, Xuehan, Ye, Rui, So, Man-Ting, Lam, Wai-Yee, Karim, Anwarul, Yu, Michelle, Ngo, Ngoc Diem, Cherny, Stacey S, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè, Tang, Clara Sze-man, Sham, Pak Chung

    Published 2020
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  12. 12
    Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

    Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing by Tang, Clara SM, Zhuang, Xuehan, Lam, Wai-Yee, Ngan, Elly Sau-Wai, Hsu, Jacob Shujui, Michelle, YU, Man-Ting, SO, Cherny, Stacey S, Ngo, Ngoc Diem, Sham, Pak C, Tam, Paul KH, Garcia-Barcelo, Maria-Mercè

    Published 2018
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  13. 13
    Cancer gene mutations in congenital pulmonary airway malformation patients

    Cancer gene mutations in congenital pulmonary airway malformation patients by Hsu, Jacob Shujui, Zhang, Ruizhong, Yeung, Fanny, Tang, Clara S.M., Wong, John K.L., So, Man-Ting, Xia, Huimin, Sham, Pak, Tam, Paul K., Li, Miaoxin, Wong, Kenneth K.Y., Garcia-Barcelo, Maria-Mercè

    Published 2019
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  14. 14
    Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

    Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism by Liu, Wei, Wong, John KL, He, Qiuming, Wong, Emily HM, Tang, Clara SM, Zhang, Ruizhong, So, Man-ting, Wong, Kenneth KY, Nicholls, John, Cherny, Stacey S, Sham, Pak C, Tam, Paul K, Garcia-Barcelo, Maria-Mercè, Xia, Huimin

    Published 2015
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  15. 15
    Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

    Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes by Wong, John K. L., Campbell, Desmond, Ngo, Ngoc Diem, Yeung, Fanny, Cheng, Guo, Tang, Clara S. M., Chung, Patrick H. Y., Tran, Ngoc Son, So, Man-ting, Cherny, Stacey S., Sham, Pak C., Tam, Paul K., Garcia-Barcelo, Maria-Mercè

    Published 2016
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  16. 16
    Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

    Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors by Tang, Clara Sze Man, Mononen, Mimmi, Lam, Wai-Yee, Jin, Sheng Chih, Zhuang, Xuehan, Garcia-Barcelo, Maria-Mercè, Lin, Qiongfen, Yang, Yujia, Sahara, Makoto, Eroglu, Elif, Chien, Kenneth R., Hong, Haifa, Tam, Paul Kwong Hang, Gruber, Peter J.

    Published 2022
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  17. 17
    Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease

    Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease by Fu, Alexander Xi, Lui, Kathy Nga-Chu, Tang, Clara Sze-Man, Ng, Ray Kit, Lai, Frank Pui-Ling, Lau, Sin-Ting, Li, Zhixin, Garcia-Barcelo, Maria-Mercè, Sham, Pak-Chung, Tam, Paul Kwong-Hang, Ngan, Elly Sau-Wai, Yip, Kevin Y.

    Published 2020
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  18. 18
    AB080. Genetic findings provide insight of biliary atresia patient complexity

    AB080. Genetic findings provide insight of biliary atresia patient complexity by Cheng, Guo, Garcia-Barceló, Maria-Mercè, Chung, Patrick Ho-Yu, Tang, Wai-Kiu, Man Wong, Emily Hoi, Chan, Edwin Kin-Wai, So, Man-Ting, Ngo, Diem Ngoc, Tran, Ngoc Son, Nguyen, Pham Anh Hoa, Sham, Pak-Chung, Cherny, Stacey S., Nicholls, John M., Tam, Paul Kwong-Hang

    Published 2015
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  19. 19
    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 by Ngan, Elly Sau-Wai, Garcia-Barceló, Maria-Mercè, Yip, Benjamin Hon-Kei, Poon, Hiu-Ching, Lau, Sin-Ting, Kwok, Carmen Ka-Man, Sat, Eric, Sham, Mai-Har, Wong, Kenneth Kak-Yuen, Wainwright, Brandon J., Cherny, Stacey S., Hui, Chi-Chung, Sham, Pak Chung, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang

    Published 2011
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  20. 20
    Functional polymorphisms in the promoter of BRCA1 influences transcription and are associated with decreased risk for breast cancer in Chinese women

    Functional polymorphisms in the promoter of BRCA1 influences transcription and are associated with decreased risk for breast cancer in Chinese women by Chan, Kelvin Yuen-Kwong, Liu, Wei, Long, Ji-Rong, Yip, Shea-Ping, Chan, Sum-Yin, Shu, Xiao-Ou, Chua, Daniel Tsin-Tien, Cheung, Annie Nga-Yin, Ching, Johannes Chi-Yun, Cai, Hui, Au, Gordon Kwok-Hung, Chan, Miranda, Foo, William, Ngan, Hextan Yuen-Sheung, Gao, Yu-Tang, Ngan, Elly Sau-Wai, Garcia-Barceló, Maria-Mercè, Zheng, Wei, Khoo, Ui-Soon

    Published 2008
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