Results 1 to 20 of 128
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TypeTitleAuthor(s)YearViews
The clinical impact of chromosomal microarray on paediatric care in Hong Kong
Journal:
PLOS One [in-press]
Tao, QV; Chan, YK; Chu, WY; Mok, TKG; Tan, TY; Yang, W; Lee, SL; Tang, WF; Tso, WYW; Lau, ETK; Kan, SYA; Tang, MHY; Lau, YL; Chung, BHY201436
 
Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation
Journal:
American Journal of Medical Genetics (Part A)
YEUNG, KS; Chee, WYY; Luk, HM; Kan, SYA; Tang, MHY; Lau, ETK; Shuen, AY; Lo, IFM; Chan, YK; Chung, BHY201429
 
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
Journal:
European Journal of Medical Genetics [Epub ahead of print]
Publisher:
Elsevier.
Liu, APY; Chow, PC; Lee, PPW; Mok, TKG; Tang, WF; Lau, ETK; Lam, STS; Chan, YK; Kan, SYA; Chau, AKT; Cheung, YF; Lau, YL; Chung, BHY201462
 
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
Journal:
European Journal of Medical Genetics [in-press]
Publisher:
Elsevier.
Luk, HM; Wong, VCH; Lo, IFM; Chan, YK; Lau, ETK; Kan, SYA; Tang, MHY; Tang, WF; She, WMK; Chu, WY; Sin, WK; Chung, BHY201458
 
CFTR: p.I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with Cystic Fibrosis
Proceedings/Conference:
64th ASHG Annual Meeting 2014
Publisher:
American Society of Human Genetics.
Chung, BHY; Leung, KC; Mak, CCY; Chow, CSK; Ying, JD; Chu, YWY; Yang, WL; Lau, YL; Chan, KYK; Lee, SL201411
 
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1
Journal:
Nat Genet
Cai, Q; Zhang, B; Sung, H; Low, SK; Kweon, SS; Lu, W; Shi, J; Long, J; Wen, W; Choi, JY; Noh, DY; Shen, CY; Matsuo, K; Teo, SH; Kim, MK; Khoo, US; Iwasaki, M; Hartman, M; Takahashi, A; Ashikawa, K; Matsuda, K; Shin, MH; Park, MH; Zheng, Y; Xiang, YB; Ji, BT; Park, SK; Wu, PE; Hsiung, CN; Ito, H; Kasuga, Y; Kang, P; Mariapun, S; Ahn, SH; Kang, HS; Chan, YK; Man, PS; Iwata, H; Tsugane, S; Miao, H; Liao, J; Nakamura, Y; Kubo, M; Consortium, DG; Delahanty, RJ; Zhang, Y; Li, B; Li, C; Gao, YT; Shu, XO; Kang, D; Zheng, W201433
 
Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong
Journal:
PLoS One
Publisher:
Public Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Kan, SYA; Lau, ETK; Tang, WF; Chan, SSY; Ding, SCK; Chan, YK; Lee, CP; Hui, PW; Chung, BHY; Leung, KY; Ma, WLT; Leung, WC; Tang, MHY201496
 
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing?
Proceedings/Conference:
Hong Kong Journal of Paediatrics (New series)
Publisher:
Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Ying, D; Shek, NWM; Chu, WY; Yeung, KS; Leung, KC; Tang, MHY; Kan, SYA; Chan, YK; Chung, BHY201443
 
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?
Proceedings/Conference:
35th Annual David W. Smith Workshop on Malformations and Morphogenesis 2014
Ying, D; Shek, NWM; Chu, WY; Yeung, KS; Leung, KC; Tang, MHY; Kan, ASY; Chan, YK; Chung, BHY201423
 
Clinical implications of large rare copy number variations in 110 Chinese patients with conotruncal heart disease (outstanding oral presentation)
Proceedings/Conference:
HKCP Annual Scientific Meeting, 6 December 2014
MAK, CCY; Chow, PC; Chau, AKT; Chan, YK; Bassett, AS; Chung, BHY20142
 
Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature
Journal:
American Journal of Medical Genetics, Part A
Liu, APY; Tang, WF; Lau, ETK; Chan, YK; Kan, SYA; Wong, KY; Tso, WYW; Jalal, K; Lee, SL; Chau, CSK; Chung, BHY2013202
 
Identifying genetic mutations in patients with RASopathies using a new generation sequencing diagnostic pipeline in Hong Kong
Proceedings/Conference:
Annual Scientific Meeting, Hong Kong College of Paediatricians, HK, 7 December 2013
Lo, IFM; Leung, KC; Luk, HM; Tang, VHM; Gao, W; Wong, WL; Tang, LYF; Chu, WY; Kan, SYA; Tang, MHY; Lam, STS; Yang, W; Ma, CH; Jin, D; Chan, YK; Chung, BHY201360
 
Evidence of Spread of X Chromosome Inactivation On Chromosome 15 in a Girl With an Unbalanced t(X;15) Translocation
Proceedings/Conference:
Hong Kong Journal of Paediatrics (New series)
Publisher:
Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Yeung, KS; Chee, WYY; Luk, HM; Tang, MHY; Lau, ETK; Shuen, YA; Lo, IFM; Chan, YK; Chung, BHY201366
 
Integration of chromosomal microarray into paediatric clinical care in Hong Kong
Proceedings/Conference:
Hong Kong Journal of Paediatrics (New series)
Publisher:
Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Tao, V; She, W; Chu, WY; Tso, W; Chan, KY; Lau, EYL; Kan, A; Tang, MH; Lau, YL; Chung, BHY201390
 
Integration of chromosomal microarray into paediatric clinical care in Hong Kong
Proceedings/Conference:
Hong Kong College of Paediatricians ASM Programme Book 2013
Publisher:
Hong Kong College of Paediatricians.
Tao, V; Chu, YWY; Chan, KY; Lau, EYL; Mok, GTK; Tso, W; Liu, A; Kan, A; Tang, MH; Lau, YL; Chung, BHY2013100
 
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong
Proceedings/Conference:
37th Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013
Lo, IFM; Leung, KC; Luk, MHM; Wong, WL; Tang, LYF; Chu, YWY; Kan, ASY; Tang, MHY; Lam, STS; Yang, W; Chan, YK; Chung, BHY201323
 
SpliceArray profiling of breast cancer reveals a novel variant of NCOR2/SMRT that is associated with tamoxifen resistance and control of ERα transcriptional activity.
Journal:
Cancer Research
Publisher:
American Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/
Zhang, L; Gong, C; Lau, SLY; Yang, N; Wong, OGW; Cheung, ANY; Tsang, JWH; Chan, KYK; Khoo, US201395
 
Array CGH testing in prenatal diagnosis: a promising new service with improved diagnostic yield and shortened reporting time
Proceedings/Conference:
Hospital Authority Convention 2012 Proceedings
Publisher:
Hospital Authority. The Conference proceedings' website is located at http://www.ha.org.hk/haconvention/hac2012/proceedings/en_index.html
Kan, ASY; Lau, ET; Tang, WF; Chan, SY; Ding, CK; Lee, CP; Hui, PW; Leung, KY; Ma, T; Leung, WC; Chan, YK; Tang, MHY2012172
 
Regarding "co-expression of SNAIL and TWIST determines prognosis in estrogen receptor-positive early breast cancer patients"
Journal:
Breast Cancer Research and Treatment
Publisher:
Springer New York LLC. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0167-6806
Yuen, HF; Zhang, SD; Wong, ASY; Mccrudden, CM; Huang, YH; Chan, KYK; ElTanani, M; Khoo, US2012156
 
FOXO3a represses VEGF expression through FOXM1-dependent and -independent mechanisms in breast cancer
Journal:
Oncogene
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/onc
Karadedou, CT; Gomes, AR; Chen, J; Petkovic, M; Ho, KK; Zwolinska, AK; Feltes, A; Wong, SY; Chan, KYK; Cheung, YN; Tsang, JWH; Brosens, JJ; Khoo, US; Lam, EWF2012309
 
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