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1

Evaluation of the Thyroid Transcription Factor-1 Gene (TITF1) as a Hirschsprung's Disease Locus

Maria-Mercè Garcia-Barceló, Danny Ko-chun Lau, Elly Sau-wai Ngan, Thomas Yuk-yu Leon, Ting-ting Liu, Man-ting So, Xiao-ping Miao, Vincent Chi-hang Lui, Kenneth Kak-yuen Wong, Raymond William Ganster,

Journal:

Annals of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 134 KB

english, 2007

2

Cost effective assay choice for rare disease study designs

Campbell, Desmond D, Porsch, Robert M, Cherny, Stacey S, Capra, Valeria, Merello, Elisa, De Marco, Patrizia, Sham, Pak C, Garcia-Barceló, Maria-Mercè

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 543 KB

english, 2015

3

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

Tang, Clara Sze-man, Dattani, Saloni, So, Man-ting, Cherny, Stacey S., Tam, Paul K. H., Sham, Pak C., Garcia-Barcelo, Maria-Mercè

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 696 KB

english, 2017

4

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

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-Merc

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 775 KB

english, 2018

5

Characterization of the human 36-kDa carboxyl terminal LIM domain protein (hCLIM1)

Masayo Kotaka, Sai-Ming Ngai, Merce Garcia-Barcelo, Stephen K.W. Tsui, Kwok-Pui Fung, Cheuk-Yu Lee, Mary M.Y. Waye

Journal:

Journal of Cellular Biochemistry

Année:

1999

Langue:

english

Fichier:

PDF, 129 KB

english, 1999

6

Identification of a HOXD13 mutation in a VACTERL patient

Maria-Mercè Garcia-Barceló, Kenneth Kak-yuen Wong, Vincent Chi-hang Lui, Zhen-wei Yuan, Man-ting So, Elly Sau-wai Ngan, Xiao-ping Miao, Patrick Ho-yu Chung, Pek-lan Khong, Paul Kwong-hang Tam

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 314 KB

english, 2008

7

Mutational analysis of SHH and GLI3 in anorectal malformations

Maria-Mercè Garcia-Barceló, Vincent Chi-Hang Lui, Xiaoping Miao, Man-ting So, Thomas Yuk-yu Leon, Zhen-wei Yuan, Long Li, Lei Liu, Bin Wang, Xiao-bing Sun, Liu-ming Huang, Jin-fa Tou, Elly Sau-wai Nga

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2008

Langue:

english

Fichier:

PDF, 85 KB

english, 2008

8

Functional analyses of RET mutations in Chinese hirschsprung disease patients

Thomas Y.Y. Leon, Man-Ting So, Vincent C.H. Lui, Robert M.W. Hofstra, Paul K.H. Tam, Elly S.W. Ngan, Maria-Mercè Garcia-Barceló

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2012

Langue:

english

Fichier:

PDF, 504 KB

english, 2012

9

Mapping of nasopharyngeal carcinoma tumor-suppressive activity to a 1.8-megabase region of chromosome band 11q13

Yue Cheng, Rita Chakrabarti, Merce Garcia-Barcelo, Thomas J. Ha, Eri S. Srivatsan, Eric J. Stanbridge, Maria Li Lung

Journal:

Genes, Chromosomes and Cancer

Année:

2002

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2002

10

Easy differentiation of Mycobacterium mucogenicum from other species of the Mycobacterium fortuitum complex by thin-layer and gas chromatography of fatty esters and alcohols

Manuel Muñoz, Esther Julián, Merçé Garcia-Barceló, Vicente Ausina, Marina Luquin

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

1997

Langue:

english

Fichier:

PDF, 555 KB

english, 1997

11

Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11

L.Y. Chow, Merce Garcia-Barcelo, Y.K. Wing, Mary M.Y. Waye

Journal:

Australian and New Zealand Journal of Psychiatry

Année:

1999

Langue:

english

Fichier:

PDF, 21 KB

english, 1999

12

Genetic basis of Hirschsprung’s disease

Paul K. H. Tam, Mercè Garcia-Barceló

Journal:

Pediatric Surgery International

Année:

2009

Langue:

english

Fichier:

PDF, 431 KB

english, 2009

13

Mapping of a Hirschsprung's disease locus in 3p21

Garcia-Barceló, Maria-Mercè, Fong, Pui-yee, Tang, Clara S, Miao, Xiao-ping, So, Man-ting, Yuan, Zhen-wei, Li, Long, Guo, Wei-hong, Liu, Lei, Wang, Bin

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 379 KB

english, 2008

14

Radiation Hybrid Mapping of Human Cytosolic Malate Dehydrogenase (hcMDH) to the Short Arm of Chromosome 2

Agnes Shuk Yee Lo, Choong Tsek Liew, Patrick Tik Wan Law, Mercè Garcia-Barceló, Stephen Kwok Wing Tsui, Kwok Pui Fung, Cheuk Yu Lee, Mary Miu Yee Waye

Journal:

Somatic Cell and Molecular Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 1.04 MB

english, 1999

15

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

Eileen Sproat Emison, Merce Garcia-Barcelo, Elizabeth A. Grice, Francesca Lantieri, Jeanne Amiel, Grzegorz Burzynski, Raquel M. Fernandez, Li Hao, Carl Kashuk, Kristen West, Xiaoping Miao, Paul K.H. T

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 857 KB

english, 2010

16

Prokineticin-1 (Prok-1) works coordinately with glial cell line-derived neurotrophic factor (GDNF) to mediate proliferation and differentiation of enteric neural crest cells

Elly S.W. Ngan, Cathy K.Y. Shum, Hiu-Ching Poon, Mai-Har Sham, Maria-Mercè Garcia-Barcelo, Vincent C.H. Lui, Paul K.H. Tam

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Année:

2008

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2008

17

Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation

Mercè Garcia-Barcelo, Sebastian K. King, Xiaoping Miao, Man-ting So, William T. Holden, Jason H. Moore, Jonathan R. Sutcliffe, John M. Hutson, Paul K.H. Tam

Journal:

Journal of Pediatric Surgery

Année:

2007

Langue:

english

Fichier:

PDF, 112 KB

english, 2007

18

MNX1 (HLXB9) mutations in Currarino patients

Maria-Mercè Garcia-Barceló, Vincent Chi-Hang Lui, Man-ting So, Xiaoping Miao, Thomas Yuk-yu Leon, Zhen-wei Yuan, Elly Sau-wai Ngan, Toufique Ehsan, Patrick Ho-yu Chung, Pek-lan Khong, Kenneth Kak-yuen

Journal:

Journal of Pediatric Surgery

Année:

2009

Langue:

english

Fichier:

PDF, 383 KB

english, 2009

19

Lack of association between nNOS −84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population

Xiaoping Miao, Maria-Mercè Garcia-Barceló, Man-ting So, Wai-kiu Tang, Xiao Dong, Bin Wang, Jianxiong Mao, Elly Sau-wai Ngan, Yan Chen, Vincent Chi-hang Lui, Kenneth Kak-yuen Wong, Lei Liu, Paul Kwong-

Journal:

Journal of Pediatric Surgery

Année:

2010

Langue:

english

Fichier:

PDF, 119 KB

english, 2010

20

Chromosomal mapping, tissue distribution and cDNA sequence of Four-and-a-half LIM domain protein 1 (FHL1)

Simon Ming Yuen Lee, Stephen Kwok Wing Tsui, Kwok Keung Chan, Merce Garcia-Barcelo, Mary Miu Yee Waye, Kwok Pui Fung, Choong Chin Liew, Cheuk Yu Lee

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 577 KB

english, 1998

21

Molecular genetics of Hirschsprung’s disease

Paul K.H. Tam, Mercè Garcia-Barcelo

Journal:

Seminars in Pediatric Surgery

Année:

2004

Langue:

english

Fichier:

PDF, 270 KB

english, 2004

22

Hirschsprung's disease

Simon E. Kenny, Paul K.H. Tam, Mercè Garcia-Barcelo

Journal:

Seminars in Pediatric Surgery

Année:

2010

Langue:

english

Fichier:

PDF, 216 KB

english, 2010

23

Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations

Diem-Ngoc Ngo, Man-Ting So, Hongsheng Gui, Anh-Quynh Tran, Duc-Hau Bui, Stacey Cherny, Paul Kwong-Hang Tam, Thanh-Liem Nguyen, Maria-Mercè Garcia-Barcelo

Journal:

Journal of Pediatric Surgery

Année:

2012

Langue:

english

Fichier:

PDF, 126 KB

english, 2012

24

Mycobacterial DNA not detected in liver sections from patients with primary biliary cirrhosis

John O'Donohue, Helen Fidler, Merce Garcia-Barcelo, Kayhan Nouri-Aria, Roger Williams, Johnjoe McFadden

Journal:

Journal of Hepatology

Année:

1998

Langue:

english

Fichier:

PDF, 105 KB

english, 1998

25

Erratum to: RET and NRG1 interplay in Hirschsprung disease

Gui, Hongsheng, Tang, Wai-Kiu, So, Man-Ting, Proitsi, Petroola, Sham, Pak C., Tam, Paul K., Ngan, Elly Sau-Wai, Cherny, Stacey S., Garcia-Barceló, Maria-Mercè

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 121 KB

english, 2014

26

HOXB5 binds to multi-species conserved sequence (MCS+9.7) of RET gene and regulates RET expression

Zhu, Joe Jiang, Kam, Mandy KaMan, Garcia-Barceló, Maria-Mercè, Tam, Paul Kwong Hang, Lui, Vincent Chi Hang

Journal:

The International Journal of Biochemistry & Cell Biology

Année:

2014

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2014

27

Isolation and chromosomal mapping of human glycogen synthase kinase-3 α and -3β encoding genes

Shaw, Pang-Chui, Davies, Angela F, Lau, Kwok-Fai, Garcia-Barcelo, Merce, Waye, Mary MY, Lovestone, Simon, Miller, Christopher CJ, Anderton, Brian H

Journal:

Année:

1998

Fichier:

PDF, 2.60 MB

1998

28

Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11

Chow, L. Y., Garcia-Barcelo, Merce, Wing, Y. K., Waye, Mary M. Y.

Journal:

Australian and New Zealand Journal of Psychiatry

Année:

1999

Langue:

english

Fichier:

PDF, 23 KB

english, 1999

29

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Ro

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 220 KB

english, 2012

30

No NRG1 V266L in Chinese patients with schizophrenia

Garcia-Barceló, Maria-Mercè, Miao, Xiaoping, Tang, Clara S., So, Hon-Cheong, Tang, Waikiu, Leon, Thomas Y.Y., So, Manting, Yip, Benjamin, Chen, Ronald Y.L., Cheung, Eric F.C., Chen, Eric Y.H., Li, Tao

Journal:

Psychiatric Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 73 KB

english, 2011

31

Genetics of enteric neuropathies

Brosens, Erwin, Burns, Alan J., Brooks, Alice S., Matera, Ivana, Borrego, Salud, Ceccherini, Isabella, Tam, Paul K., García-Barceló, Maria-Mercè, Thapar, Nikhil, Benninga, Marc A., Hofstra, Robert M.W

Journal:

Developmental Biology

Année:

2016

Langue:

english

Fichier:

PDF, 855 KB

english, 2016

32

Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes

Hsu, Jacob Shujui, Kwan, Johnny S.H., Pan, Zhicheng, Garcia-Barcelo, Maria-Mercè, Sham, Pak Chung, Li, Miaoxin

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 560 KB

english, 2016

33

Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

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

Journal:

BMC Medical Genomics

Année:

2017

Langue:

english

Fichier:

PDF, 668 KB

english, 2017

34

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia

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, Toland, Amanda Ewart

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 441 KB

english, 2013

35

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

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, Toland, Aman

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 243 KB

english, 2010

36

Are psychiatric comorbidities and associated cognitive functions related to treatment response to methylphenidate in boys with attention-deficit/hyperactivity disorder?

Chan, Mandy H, Leung, Patrick WL, Ho, Ting-pong, Hung, Se-fong, Lee, Chi-chiu, Tang, Chun-pan, Cheung, Ka-chai, Ching, Fung-yee, Chan, Fefe HK, Chen, Lu-hua, Garcia-Barcelo, Merce, Sham, Pak-chung

Journal:

Neuropsychiatric Disease and Treatment

Année:

2017

Fichier:

PDF, 513 KB

2017

37

Are psychiatric comorbidities and associated cognitive functions related to treatment response to methylphenidate in boys with attention-deficit/hyperactivity disorder?

Chan, Mandy H, Leung, Patrick WL, Ho, Ting-pong, Hung, Se-fong, Lee, Chi-chiu, Tang, Chun-pan, Cheung, Ka-chai, Ching, Fung-yee, Chan, Fefe HK, Chen, Lu-hua, Garcia-Barcelo, Merce, Sham, Pak-chung

Journal:

Neuropsychiatric Disease and Treatment

Année:

2017

Langue:

english

Fichier:

PDF, 513 KB

english, 2017

38

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

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

Journal:

Cell Death & Differentiation

Année:

2018

Langue:

english

Fichier:

PDF, 5.20 MB

english, 2018

39

GENETIC OVERLAP BETWEEN ADHD AND ASD IN SHANK GENES IN CHINESE POPULATION

Chen, Lu Hua, Lee, Chi-chiu, Ho, Ting-pong, Hung, Se-fong, Tang, Chun-pan, Garcia-Barcelo, Merce, Lai, Yee Ching Kelly, Ma, Suk Ling, Mo, Yi Man Flora, Lee, Ming Chung Marshall, Shea, Ka Sin Caroline,

Journal:

European Neuropsychopharmacology

Année:

2019

Langue:

english

Fichier:

PDF, 44 KB

english, 2019

40

GENETIC OVERLAP BETWEEN ADHD AND ASD IN SHANK GENES IN CHINESE POPULATION

Chen, Lu Hua, Lee, Chi-chiu, Ho, Ting-pong, Hung, Se-fong, Tang, Chun-pan, Garcia-Barcelo, Merce, Lai, Yee Ching Kelly, Ma, Suk Ling, Mo, Yi Man Flora, Lee, Ming Chung Marshall, Shea, Ka Sin Caroline,

Journal:

European Neuropsychopharmacology

Année:

2019

Fichier:

PDF, 44 KB

2019