Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Kit‐San Yeung"'
Autor:
Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-10 (2020)
Abstract Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is cruci
Externí odkaz:
https://doaj.org/article/8385714f30b847afbf46e0c0a43d9134
Autor:
Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome
Externí odkaz:
https://doaj.org/article/5a0b380eb4b7467591756076bbbcdea8
Autor:
Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Christy Shuk-Kuen Chau, Ka Ka Siu, Jacqueline Hung, Kit San Yeung, Anna Ka Yee Kwong, Christopher O'Callaghan, Yu Lung Lau, Chun-Wai Davy Lee, Brian Hon-Yin Chung, So-Lun Lee
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and viral infections and primary immunodeficiencies, other genetic conditions such as cystic fi
Externí odkaz:
https://doaj.org/article/1354567d67c147fb8a3fb1d9e75939ea
Autor:
Kit San Yeung, Tsz Leung Lee, Mo Yin Mok, Christopher Chun Yu Mak, Wanling Yang, Patrick Chun Yin Chong, Pamela Pui Wah Lee, Marco Hok Kung Ho, Sanaa Choufani, Chak Sing Lau, Yu Lung Lau, Rosanna Weksberg, Brian Hon Yin Chung
Publikováno v:
Epigenetics, Vol 14, Iss 4, Pp 341-351 (2019)
Patients with paediatric-onset systemic lupus erythematosus (SLE) often present with more severe clinical courses than adult-onset patients. Although genome-wide DNA methylation (DNAm) profiling has been performed in adult-onset SLE patients, paralle
Externí odkaz:
https://doaj.org/article/89d8edee4cdc49f6be155e835dbf1cfd
Autor:
Zhuo Julia Shi, Fong Ting Jeffrey Chau, Sit Yee Kwok, Kit San Yeung, Lee Fong Jasmine Fung, Ka Yee Anna Kwong, Tak Cheung Yung, Hon Yin Brian Chung, Kin Shing Lun
Background Pediatric cardiomyopathies are rare conditions associated with substantial morbidity and mortality. This study aims at reporting the clinical and genetic spectrums of pediatric cardiomyopathy in the single tertiary centre in the Hong Kong.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bbded36d54ca002b9121ed4e3e1a3b2
https://doi.org/10.21203/rs.3.rs-2207234/v1
https://doi.org/10.21203/rs.3.rs-2207234/v1
Autor:
Mullin H.C. Yu, Brian H.Y. Chung, Paul K.H. Tam, Yu-Lung Lau, Christopher C.Y. Mak, Patrick Ho Yu Chung, Jasmine L.F. Fung, Mandy H.Y. Tsang, Clara S. Tang, Mianne Lee, Jeffrey Fong Ting Chau, So Lun Lee, Wanling Yang, Godfrey Chi-Fung Chan, Kit San Yeung
Publikováno v:
Journal of Human Genetics. 66:637-641
The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evalu
Autor:
Arupa Ganguly, Joanna Yuet-ling Tung, Diva D. DeLeón, Kelvin Y.K. Chan, Jennifer M. Kalish, Brian H.Y. Chung, Florence Loong, Anita Sik Yau Kan, Kit San Yeung, Sophie Hon Yu Lai, Sandy Leung Kuen Au
Publikováno v:
International Journal of Pediatric Endocrinology, Vol 2020, Iss 1, Pp 1-6 (2020)
International Journal of Pediatric Endocrinology
International Journal of Pediatric Endocrinology
Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in m
Autor:
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Xuehan Zhuang, Ryan Lee, Jasmine Lee Fong Fung, Mianne Lee, Christopher Chun Yu Mak, Nicole Ying Ting Ng, Claudia Ching Yan Chung, Marcus Chun Yin Chan, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Kelvin Yuen Kwong Chan, Anita Sik Yau Kan, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Kit San Yeung, Brian Hon Yin Chung, Clara Sze Man Tang
Publikováno v:
NPJ genomic medicine. 7(1)
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we perfor
Autor:
Hon-Yin Brian Chung, Fong Ting Jeffrey Chau, Sze-Man Clara Tang, Kit San Yeung, Ho Chung Mullin Yu
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss Suppl 1 (2021)
Background Expanded carrier screening (ECS) is a genetic test that investigates the genetic composition of a couple and determines whether their offspring has an elevated risk of inherited disorders. Comparisons between commercially available ECS has
Autor:
So Lun Lee, Mullin H.C. Yu, Gordon K.C. Leung, Steven L.C. Pei, Alvin Chi-chung Ho, Kelvin Y.K. Chan, Brian H.Y. Chung, Kit San Yeung, Ada Wing-Yan Yung, Mandy H.Y. Tsang, Cheuk-Wing Fung, Anita Sik Yau Kan, Karen L. Kwong, Christopher C.Y. Mak
Publikováno v:
Epilepsia Open
Summary Objective Early onset drug‐resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure‐free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to