Garcia-Barcelo, M. d. l. C.: search on Z-Library

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1

Design and implementation of evanescent mode waveguide filters using dielectrics and additive manufacturing techniques

Pons-Abenza, Alejandro, García-Barceló, José-María, Romera-Pérez, Antonio, Alvarez-Melcon, Alejandro, Quesada-Pereira, Fernando D., Hinojosa-Jiménez, Juan, Guglielmi, Marco, Boria Esbert, Vicente E.,

Journal:

AEU - International Journal of Electronics and Communications

Year:

2020

Language:

english

File:

PDF, 3.49 MB

english, 2020

2

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

Year:

2007

Language:

english

File:

PDF, 134 KB

english, 2007

3

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

Year:

2015

Language:

english

File:

PDF, 543 KB

english, 2015

4

Correction of Hirschsprung-associated Mutations in Human Induced Pluripotent Stem Cells, via CRISPR/Cas9, Restores Neural Crest Cell Function

Lai, Frank Pui-Ling, Lau, Sin-Ting, Wong, John Kwong-Leong, Gui, Hongsheng, Wang, Reeson Xu, Zhou, Tingwen, Lai, Wing Hon, Tse, Hung-Fat, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercedes, Ngan, El

Journal:

Gastroenterology

Year:

2017

Language:

english

File:

PDF, 19.04 MB

english, 2017

5

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:

Year:

2017

Language:

english

File:

PDF, 696 KB

english, 2017

6

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

Yu, Kris P.T., Luk, Ho-Ming, Gordon, Christopher T., Fung, Genevieve, Oufadem, Myriam, Garcia-Barcelo, Maria M., Amiel, Jeanne, Chung, Brian H.Y., Lo, Ivan F.M., Tiong, Yang Tan

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 173 KB

english, 2018

7

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

Year:

2018

Language:

english

File:

PDF, 775 KB

english, 2018

8

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

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

9

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

Year:

2008

Language:

english

File:

PDF, 314 KB

english, 2008

10

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

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

11

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

Year:

2012

Language:

english

File:

PDF, 504 KB

english, 2012

12

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

Year:

2002

Language:

english

File:

PDF, 1.33 MB

english, 2002

13

Gas chromatographic whole-cell fatty acid analysis as an aid for the identification of mixed mycobacterial cultures

M. Garcia-Barceló, M. Luquin, F. Belda, V. Ausina

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1993

Language:

english

File:

PDF, 269 KB

english, 1993

14

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

Year:

1997

Language:

english

File:

PDF, 555 KB

english, 1997

15

Is there a role for the IHH gene in Hirschsprung's disease?

M.-M. Garcia-Barceló, W.-S. Lee, M.-H. Sham, V. C.-H. Lui, P. K.-H. Tam

Journal:

Neurogastroenterology & Motility

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

16

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

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

17

Genetic basis of Hirschsprung’s disease

Paul K. H. Tam, Mercè Garcia-Barceló

Journal:

Pediatric Surgery International

Year:

2009

Language:

english

File:

PDF, 431 KB

english, 2009

18

Dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients

M. M. Garcia-Barceló, L. C. W. Lam, G. S. Ungvari, V. K. L. Lam, W. K. Tang

Journal:

Journal of Neural Transmission

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

19

Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease

M. M. Garcia-Barceló, X. Miao, V. C. H. Lui, M. T. So, E. S. W. Ngan, T. Y. Y. Leon, D. K. C. Lau, T. T. Liu, X. Lao, W. Guo, W. T. Holden, J. Moore, P. K. H. Tam

Journal:

Annals of Human Genetics

Year:

2007

Language:

english

File:

PDF, 507 KB

english, 2007

20

Evaluation of the NK2 Homeobox 1 Gene (NKX2-1) as a Hirschsprung's Disease Locus THIS ARTICLE HAS BEEN RETRACTED

M.-M. Garcia-Barceló, D. K. Lau, E. S. Ngan, T. Y. Leon, T. Liu, M. So, X. Miao, V. C. Lui, K. K. Wong, R. W. Ganster, D. T. Cass, G. D. H. Croaker, P. K. Tam

Journal:

Annals of Human Genetics

Year:

2008

Language:

english

File:

PDF, 672 KB

english, 2008

21

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

Year:

2008

Language:

english

File:

PDF, 379 KB

english, 2008

22

Replication study of SNP associations for colorectal cancer in Hong Kong Chinese

Ho, J W, Choi, S-c, Lee, Y-f, Hui, T C, Cherny, S S, Garcia-Barceló, M-M, Carvajal-Carmona, L, Liu, R, To, S-h, Yau, T-k

Journal:

British Journal of Cancer

Year:

2010

Language:

english

File:

PDF, 302 KB

english, 2010

23

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

Year:

1999

Language:

english

File:

PDF, 1.04 MB

english, 1999

24

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

Year:

2010

Language:

english

File:

PDF, 857 KB

english, 2010

25

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

Year:

2008

Language:

english

File:

PDF, 1.52 MB

english, 2008

26

Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11

L. Y. Chow, M. M. Y. Waye, M. Garcia-Barcelo, H. F. K. Chiu, K. P. Fung, C. Y. Lee

Journal:

Journal of Intellectual Disability Research

Year:

1998

Language:

english

File:

PDF, 84 KB

english, 1998

27

Mapping of the Human Ribosomal Large Subunit Protein GeneRPL29to Human Chromosome 3q29–qter

M. Garcia-Barcelo, P.T.W. Law, S.K.W. Tsui, K.P. Fung, C.Y. Lee, M.M.Y. Waye

Journal:

Year:

1997

Language:

english

File:

PDF, 114 KB

english, 1997

28

Mapping of the Human Cysteine-Rich Intestinal Protein GeneCRIP1to the Human Chromosomal Segment 7q11.23

M. Garcia-Barcelo, S.K.W. Tsui, S.S. Chim, K.P. Fung, C.Y. Lee, M.M.Y. Waye

Journal:

Year:

1998

Language:

english

File:

PDF, 132 KB

english, 1998

29

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

Year:

2007

Language:

english

File:

PDF, 112 KB

english, 2007

30

Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3

Thomas Y.Y. Leon, Elly S.W. Ngan, Hiu-Ching Poon, Man-Ting So, Vincent C.H. Lui, Paul K.H. Tam, Maria Mercedes Garcia-Barcelo

Journal:

Journal of Pediatric Surgery

Year:

2009

Language:

english

File:

PDF, 1.00 MB

english, 2009

31

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

Year:

2009

Language:

english

File:

PDF, 383 KB

english, 2009

32

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

Year:

2010

Language:

english

File:

PDF, 119 KB

english, 2010

33

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:

Year:

1998

Language:

english

File:

PDF, 577 KB

english, 1998

34

Distribution of surface-exposed antigenic glycolipids in recent clinical isolates of Mycobacterium tuberculosis

M. Muñoz, M. Luquin, M. García-Barcelo, E. Julián, V. Ausina, M.A. Lanéelle

Journal:

Research in Microbiology

Year:

1997

Language:

english

File:

PDF, 952 KB

english, 1997

35

Molecular genetics of Hirschsprung’s disease

Paul K.H. Tam, Mercè Garcia-Barcelo

Journal:

Seminars in Pediatric Surgery

Year:

2004

Language:

english

File:

PDF, 270 KB

english, 2004

36

Hirschsprung's disease

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

Journal:

Seminars in Pediatric Surgery

Year:

2010

Language:

english

File:

PDF, 216 KB

english, 2010

37

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

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

38

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

Year:

1998

Language:

english

File:

PDF, 105 KB

english, 1998

39

Use of polymerase chain reaction to detect mycobacterial DNA in liver sections from patients with primary biliary cirrhosis

M Garcia-Barcelo, H Fiddler, J O'Donohue, J McFadden, R Williams

Journal:

Gastroenterology

Year:

1995

Language:

english

File:

PDF, 163 KB

english, 1995

40

06-P050 Wnt antagonists regulate urethra tubercularization and cloaca septation

Roy Chun Laam Ng, Vincent Chi Hang Lui, Maria-Mercedes Garcia-Barcelo, Zheng Wei Yuan, Paul Kwong Hang Tam

Journal:

Mechanisms of Development

Year:

2009

Language:

english

File:

PDF, 36 KB

english, 2009

41

P02.321 Occurrence of CYP2D6 gene duplication in Hong Kong Chinese

L.Y. Chow, M. Garcia-Barceló, K.L. Lam, H.F.K. Chiu, Y.K. Wing, M.M.Y. Waye

Journal:

European Psychiatry

Year:

2000

Language:

english

File:

PDF, 132 KB

english, 2000

42

Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

Alves, Maria M., Sribudiani, Yunia, Brouwer, Rutger W.W., Amiel, Jeanne, Antiñolo, Guillermo, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Fernández, Raquel M., Garcia-Barcelo, Maria-M

Journal:

Developmental Biology

Year:

2013

Language:

english

File:

PDF, 1.68 MB

english, 2013

43

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:

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

44

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

Year:

2014

Language:

english

File:

PDF, 1.60 MB

english, 2014

45

Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese

Wong, E. H. M., So, H.-C., Li, M., Wang, Q., Butler, A. W., Paul, B., Wu, H.-M., Hui, T. C. K., Choi, S.-C., So, M.-T., Garcia-Barcelo, M.-M., McAlonan, G. M., Chen, E. Y. H., Cheung, E. F. C., Chan,

Journal:

Schizophrenia Bulletin

Year:

2014

Language:

english

File:

PDF, 2.95 MB

english, 2014

46

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:

Year:

1998

File:

PDF, 2.60 MB

1998

47

Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

Matera, Ivana, Musso, Marco, Griseri, Paola, Rusmini, Marta, Di Duca, Marco, So, Man-ting, Mavilio, Domenico, Miao, Xiaoping, Tam, Paul HK, Ravazzolo, Roberto, Ceccherini, Isabella, Garcia-Barcelo, Me

Journal:

Year:

2013

Language:

english

File:

PDF, 82 KB

english, 2013

48

Intranasal formulation of erythropoietin (EPO) showed potent protective activity against amyloid toxicity in the A 25-35 non-transgenic mouse model of Alzheimer's disease

Maurice, T., Mustafa, M.-H., Desrumaux, C., Keller, E., Naert, G., Garcia-Barcelo, M. d. l. C., Rodriguez Cruz, Y., Garcia Rodriguez, J. C.

Journal:

Journal of Psychopharmacology

Year:

2013

Language:

english

File:

PDF, 4.40 MB

english, 2013

49

Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

Matera, Ivana, Musso, Marco, Griseri, Paola, Rusmini, Marta, Di Duca, Marco, So, Man-ting, Mavilio, Domenico, Miao, Xiaoping, Tam, Paul HK, Ravazzolo, Roberto, Ceccherini, Isabella, Garcia-Barcelo, Me

Journal:

Year:

2013

Language:

english

File:

PDF, 335 KB

english, 2013

50

Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations

Ng, R C-L, Matsumaru, D, Ho, A S-H, Garcia-Barceló, M-M, Yuan, Z-W, Smith, D, Kodjabachian, L, Tam, P K-H, Yamada, G, Lui, V C-H

Journal:

Cell Death & Differentiation

Year:

2014

Language:

english

File:

PDF, 5.87 MB

english, 2014

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