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Mercè Garcia-Barcelo

Research Profile

Disorders

Hirschsprung's Disease

Chemicals & Drugs

Anatomy

Enteric Nervous System

Genes & Molecular Sequences

Physiology

Living Beings

Asian Continental Ancestry Group

Procedures

Concepts & Ideas

Penetrance

Geographic Areas

China

Co-author Network

Publications

TOP 3
Ivana Matera; Domenico Mavilio; Xiaoping Miao; Marco Musso; Roberto Ravazzolo; Marta Rusmini; Man-ting So; Paul Hk Tam; Isabella Ceccherini; Marco Di Duca; Paola Griseri; Mercè Garcia-Barcelo
Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease.
Diem-Ngoc Ngo; Thanh Liem Nguyen; Man-ting So; Paul Kwong-Hang Tam; Anh-Quynh Tran; Duc-Hau Bui; Stacey Cherny; Hongsheng Gui; Mercè Garcia-Barcelo
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.
Anne-Sophie Jannot; Francesca Lantieri; Arnold Munnich; Anna Pelet; Paul K H Tam; Joke B G M Verheij; Jeanne Amiel; Stacey Marie Arnold; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Françoise Clerget-Darpoux; Raquel M Fernandez; Mercè Garcia-Barcelo; Robert M W Hofstra; Stanislas LYONNET
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

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All Publications

2013: Ivana Matera; Domenico Mavilio; Xiaoping Miao; Marco Musso; Roberto Ravazzolo; Marta Rusmini; Man-ting So; Paul Hk Tam; Isabella Ceccherini; Marco Di Duca; Paola Griseri; Mercè Garcia-Barcelo
Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease.
Human mutation 2013;34(5):754-62.
2012: Diem-Ngoc Ngo; Thanh Liem Nguyen; Man-ting So; Paul Kwong-Hang Tam; Anh-Quynh Tran; Duc-Hau Bui; Stacey Cherny; Hongsheng Gui; Mercè Garcia-Barcelo
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.
Journal of pediatric surgery 2012;47(10):1859-64.
2012: Anne-Sophie Jannot; Francesca Lantieri; Arnold Munnich; Anna Pelet; Paul K H Tam; Joke B G M Verheij; Jeanne Amiel; Stacey Marie Arnold; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Françoise Clerget-Darpoux; Raquel M Fernandez; Mercè Garcia-Barcelo; Robert M W Hofstra; Stanislas LYONNET
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
European journal of human genetics : EJHG 2012;20(9):917-20.
2011: Jiang Zhu; Paul K H Tam; Mercè Garcia-Barcelo; Vincent C H Lui
HOXB5 cooperates with NKX2-1 in the transcription of human RET.
PloS one 2011;6(6):e20815.
2010: Simon E Kenny; Paul K H Tam; Mercè Garcia-Barcelo
Hirschsprung's disease.
Seminars in pediatric surgery 2010;19(3):194-200.
2010: Eileen Sproat Emison; Mercè Garcia-Barcelo; Elizabeth A Grice; Francesca Lantieri; Jeanne Amiel; Grzegorz Burzynski; Raquel M Fernandez; Li Hao; Carl S Kashuk; Kristen West; Xiaoping Miao; Paul K H Tam; Paola Griseri; Isabella Ceccherini; Anna Pelet; Anne-Sophie Jannot; Loïc de Pontual; Alexandra Henrion-Caude; Stanislas LYONNET; Joke B G M Verheij; Robert M W Hofstra; Guillermo Antiñolo; Salud Borrego; Andy McCallion; Aravinda Chakravarti
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
American journal of human genetics 2010;87(1):60-74.
2010: Belinda K Cornes; Clara S Tang; Thomas Yuk-yu Leon; Kenneth J W S Hui; Man-ting So; Xiaoping Miao; Stacey Cherny; Pak C Sham; Paul K H Tam; Mercè Garcia-Barcelo
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
PloS one 2010;5(6):e10918.
2009: Thomas Yuk-yu Leon; Elly S W Ngan; Hiu-Ching Poon; Man-ting So; Vincent C H Lui; Paul K H Tam; Mercè Garcia-Barcelo
Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3.
Journal of pediatric surgery 2009;44(10):1904-12.
2009: Gregory S K Lau; Brian Hung-Hin Lang; Chung-Yau Lo; Annette W K Tso; Mercè Garcia-Barcelo; Paul K H Tam; Karen S L Lam
Prophylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 2009;15(5):326-31.
2009: Mercè Garcia-Barcelo; Clara Sze-Man Tang; Elly S W Ngan; Vincent C H Lui; Yan Chen; Man-ting So; Thomas Yuk-yu Leon; Xiao-Ping Miao; Cathy Ka-Yee Shum; Feng-Qin Liu; Ming-Yiu Yeung; Zhen-Wei Yuan; Wei-Hong Guo; Lei Liu; Xiao-Bing Sun; Liu-Ming Huang; Jin-Fa Tou; You-Qiang Song; Danny Chan; Kenneth M C Cheung; Kenneth Kak-yuen Wong; Stacey Cherny; Pak C Sham; Paul K H Tam
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(8):2694-9.
2008: Elly S W Ngan; Cathy K Y Shum; Hiu-Ching Poon; Mai Har Sham; Mercè Garcia-Barcelo; Vincent C H Lui; Paul K H Tam
Prokineticin-1 (Prok-1) works coordinately with glial cell line-derived neurotrophic factor (GDNF) to mediate proliferation and differentiation of enteric neural crest cells.
Biochimica et biophysica acta 2008;1783(3):467-78.
2008: Jeanne Amiel; E Sproat-Emison; Mercè Garcia-Barcelo; Francesca Lantieri; Grzegorz Burzynski; Salud Borrego; Anna Pelet; Stacey Marie Arnold; Xiaoping Miao; Paola Griseri; A S Brooks; Guillermo Antinolo; Loïc de Pontual; M Clement-Ziza; Arnold Munnich; Carl S Kashuk; K West; K K-Y Wong; Stanislas LYONNET; Aravinda Chakravarti; Paul K H Tam; Isabella Ceccherini; Robert M W Hofstra; R Fernandez
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008;45(1):1-14.
2007: Mercè Garcia-Barcelo; Sebastian K King; Xiaoping Miao; Man-ting So; William T Holden; Jason Moore; Jonathan R Sutcliffe; John M Hutson; Paul K H Tam
Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation.
Journal of pediatric surgery 2007;42(4):666-71.
2007: Xiao Qi Wang; Xiaoping Miao; Q Cai; Mercè Garcia-Barcelo; Sheung-Tat Fan
SMYD3 tandem repeats polymorphism is not associated with the occurrence and metastasis of hepatocellular carcinoma in a Chinese population.
Experimental oncology 2007;29(1):71-3.
2007: Elly S W Ngan; Francesco Y L Sit; KingLiu Lee; Xiaoping Miao; Zhengwei Yuan; Weilin Wang; John M Nicholls; Kenneth K Y Wong; Mercè Garcia-Barcelo; Vincent C H Lui; Paul K H Tam
Implications of endocrine gland-derived vascular endothelial growth factor/prokineticin-1 signaling in human neuroblastoma progression.
Clinical cancer research : an official journal of the American Association for Cancer Research 2007;13(3):868-75.
2006: Xiao Qi Wang; John Luk; Mercè Garcia-Barcelo; Xiaoping Miao; Pauline P Leung; David W Ho; Siu Tim Cheung; Brian Y Lam; Cindy K Cheung; Ashley S Wong; Silvana S Lau; Man-ting So; Wan Ching Yu; Qi Cai; Karen S Liu; Chee-Kin Hui; George K K Lau; Ronnie T P Poon; John Wong; Sheung-Tat Fan
Liver intestine-cadherin (CDH17) haplotype is associated with increased risk of hepatocellular carcinoma.
Clinical cancer research : an official journal of the American Association for Cancer Research 2006;12(17):5248-52.
2005: Mercè Garcia-Barcelo; Raymond W Ganster; Vincent C H Lui; Thomas Yuk-yu Leon; Man-ting So; Anson M F Lau; Ming Fu; Mai Har Sham; Joanne Knight; Mariastella Zannini; Pak C Sham; Paul K H Tam
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.
Human molecular genetics 2005;14(2):191-204.
2004: Paul K H Tam; Mercè Garcia-Barcelo
Molecular genetics of Hirschsprung's disease.
Seminars in pediatric surgery 2004;13(4):236-48.