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Tytuł:
Revealing the role of SPP1 macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas.
Autorzy:
Tang W; Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong Kong, China.
Lo CWS; Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong Kong, China.
Ma W; Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong Kong, China.
Chu ATW; Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong Kong, China.
Tong AHY; Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong Kong, China.
Chung BHY; Hong Kong Genome Institute, 2/F, Building 20E, Hong Kong Science Park, Hong Kong, China. .; Department of Pediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China. .
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Źródło:
Cell & bioscience [Cell Biosci] 2024 Mar 21; Vol. 14 (1), pp. 37. Date of Electronic Publication: 2024 Mar 21.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong.
Autorzy:
Tam OCH; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.
Ho RSL; Department of Pathology, Gleneagles Hospital, Wong Chuk Hang, Hong Kong.
Chan S; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.
Li KKW; Department of Anatomical and Cellular Pathology, Chinese University of Hong Kong, Sha Tin, Hong Kong.
Lam TL; Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
Cheung ETY; Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
Cheung OY; Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
Ho WWS; Department of Neurosurgery, Queen Mary Hospital, Pok Fu Lam, Hong Kong.; Department of Neurosurgery, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Cheng KKF; Department of Neurosurgery, Queen Mary Hospital, Pok Fu Lam, Hong Kong.; Department of Neurosurgery, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Shing MMK; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Ku DTL; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.
Yang W; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.
Chan GCF; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Ng HK; Department of Anatomical and Cellular Pathology, Chinese University of Hong Kong, Sha Tin, Hong Kong.
Liu APY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong.
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Źródło:
Cancers [Cancers (Basel)] 2023 Oct 07; Vol. 15 (19). Date of Electronic Publication: 2023 Oct 07.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).
Autorzy:
Chung CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Lui ACY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Chan MCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Ng YNC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Wong WHS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Lee SL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, 1/F New Clinical Building, 102 Pokfulam Road, Pok Fu Lam, Hong Kong Special Administrative Region, China.; The Duchess of Kent Children's Hospital, Pok Fu Lam, Hong Kong Special Administrative Region, China.
Knapp M; Care Policy and Evaluation Centre, Health and Social Care Policy, Department of Health Policy, London School of Economics and Political Science, Houghton Street, London, WC2A 2AE, UK. .
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong Special Administrative Region, China. .; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, 1/F New Clinical Building, 102 Pokfulam Road, Pok Fu Lam, Hong Kong Special Administrative Region, China. .; The Duchess of Kent Children's Hospital, Pok Fu Lam, Hong Kong Special Administrative Region, China. .
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Źródło:
Scientific reports [Sci Rep] 2021 Dec 13; Vol. 11 (1), pp. 23837. Date of Electronic Publication: 2021 Dec 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Costs and Cost Analysis*
Fees, Medical/*statistics & numerical data
Genetic Diseases, Inborn/*economics
Health Services/*economics
Rare Diseases/*economics
Adult ; Algorithms ; Data Interpretation, Statistical ; Female ; Health Services/statistics & numerical data ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.
Autorzy:
Ng VKS; Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong, China.
Lau TK; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Kan ASY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China.
Ng WF; Department of Anatomical and Cellular Pathology, Hong Kong Children Hospital, Hong Kong, China.
Shi M; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Choy KW; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Cao Y; Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.; Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China.
Leung WC; Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong, China.
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Źródło:
Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2021 Aug 30; Vol. 11 (9). Date of Electronic Publication: 2021 Aug 30.
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics.
Autorzy:
Chung CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, 1/F New Clinical Building, Queen Mary Hospital, 102 Pokfulam Road, Pok Fu Lam, Hong Kong SAR.
Wong WHS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, 1/F New Clinical Building, Queen Mary Hospital, 102 Pokfulam Road, Pok Fu Lam, Hong Kong SAR.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, 1/F New Clinical Building, Queen Mary Hospital, 102 Pokfulam Road, Pok Fu Lam, Hong Kong SAR. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Aug 12; Vol. 16 (1), pp. 361. Date of Electronic Publication: 2021 Aug 12.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*
Pandemics*
Adolescent ; Hospital Mortality ; Humans ; Rare Diseases ; SARS-CoV-2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China.
Autorzy:
Yu MWC; Department of Family Medicine and Primary Care, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Fung JLF; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Ng APP; Department of Family Medicine and Primary Care, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.; Department of Family Medicine and Primary Care, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Li Z; Department of Family Medicine and Primary Care, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Lan W; Department of Family Medicine and Primary Care, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Chung CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Li Y; Shenzhen Health Capacity Building and Continuing Education Center, National Health Commission, Shenzhen Shi, China.
Liu Y; Shenzhen Health Capacity Building and Continuing Education Center, National Health Commission, Shenzhen Shi, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Wong WCW; Department of Family Medicine and Primary Care, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.; Department of Family Medicine and Primary Care, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Jul; Vol. 9 (7), pp. e1702. Date of Electronic Publication: 2021 May 17.
Typ publikacji:
Journal Article
MeSH Terms:
Health Knowledge, Attitudes, Practice*
Genetic Counseling/*psychology
Adult ; Education, Medical/statistics & numerical data ; Female ; Health Personnel/psychology ; Health Personnel/statistics & numerical data ; Hong Kong ; Humans ; Male ; Middle Aged ; Primary Health Care/statistics & numerical data ; Students, Medical/psychology ; Students, Medical/statistics & numerical data
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region.
Autorzy:
Chung CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
Ng YNC; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
Jain R; Asia Pacific Alliance of Rare Disease Organisations, Singapore, Singapore. .; Nanyang Technological University, Singapore, Singapore. .
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 05; Vol. 16 (1), pp. 119. Date of Electronic Publication: 2021 Mar 05.
Typ publikacji:
Journal Article
MeSH Terms:
Pandemics*
COVID-19/*complications
COVID-19/*epidemiology
Rare Diseases/*complications
Societies/*organization & administration
Asia/epidemiology ; COVID-19/virology ; Cross-Sectional Studies ; Humans ; Oceania/epidemiology ; SARS-CoV-2/isolation & purification
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Autorzy:
Yu MHC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Chan MCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Chung CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Li AWT; Department of Pharmacy, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.
Yip CYW; Department of Pharmacy, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Chau JFT; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Lee M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Tsang MHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Chan JCK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Wong WHS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Yang J; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Chui WCM; Department of Pharmacy, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.
Chung PHY; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Yang W; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Lee SL; Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.
Chan GCF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Kowloon Bay, Hong Kong SAR, China.
Tam PKH; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.; Dr Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institutet Collaboration in Regenerative Medicine, Pokfulam, Hong Kong SAR, China.
Lau YL; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Kowloon Bay, Hong Kong SAR, China.
Tang CSM; Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.; Dr Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institutet Collaboration in Regenerative Medicine, Pokfulam, Hong Kong SAR, China.
Yeung KS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Kowloon Bay, Hong Kong SAR, China.
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Źródło:
PLoS genetics [PLoS Genet] 2021 Feb 18; Vol. 17 (2), pp. e1009323. Date of Electronic Publication: 2021 Feb 18 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Pharmacogenetics/*methods
Pharmacogenomic Variants/*genetics
Prescriptions/*statistics & numerical data
Exome Sequencing/*methods
Alleles ; Asian People/genetics ; Cohort Studies ; Gene Frequency ; Genotype ; Hong Kong ; Humans ; Pharmacogenetics/statistics & numerical data ; Pharmacogenomic Testing/methods ; Pharmacogenomic Testing/statistics & numerical data ; Phenotype ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Autorzy:
Yeung KS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Yu FNY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Wong S; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Lee HHC; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung STH; Department of Paediatrics, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung GPG; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Leung KY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chung WH; Department of Obstetrics and Gynaecology, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Lee YT; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Ng VKS; Department of Obstetrics and Gyanecology, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Yu MHC; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Tsang MHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chan SHS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Kan ASY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1229. Date of Electronic Publication: 2020 Apr 30.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Founder Effect*
Muscle Proteins/*genetics
Myopathies, Nemaline/*genetics
Aborted Fetus/pathology ; Adult ; China ; Female ; Haplotypes ; Homozygote ; Humans ; Infant, Newborn ; Myopathies, Nemaline/pathology ; Phenotype ; Point Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Autorzy:
Tsang MHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Chiu ATG; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Kwong BMH; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Liang R; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Yu MHC; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Yeung KS; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Ho WHL; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Mak CCY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Leung GKC; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Pei SLC; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Fung JLF; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Wong VCN; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Muntoni F; Dubowitz Neuromuscular Centre, University College London, Institute of Child Health, London, UK.
Chung BHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Chan SHS; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 May; Vol. 8 (5), pp. e1205. Date of Electronic Publication: 2020 Mar 10.
Typ publikacji:
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Testing/*methods
Neuromuscular Diseases/*genetics
Exome Sequencing/*methods
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genetic Loci ; Genetic Testing/standards ; Humans ; Infant ; Male ; Mutation ; Neuromuscular Diseases/diagnosis ; Predictive Value of Tests ; Exome Sequencing/standards
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
Autorzy:
Chung CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Chan KYK; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Hui PW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.
Au PKC; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Tam WK; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Li SKM; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Leung GKC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Chan MCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Luk HM; Department of Health, Clinical Genetic Service, Hong Kong, Special Administrative Region, China.
Mak ASL; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China.
Leung KY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China.
Tang MHY; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.; Department of Obstetrics and Gynaecology, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China. .; Department of Obstetrics and Gynaecology, The University of Hong Kong, Hong Kong, Special Administrative Region, China. .
Kan ASY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China. .; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2020 Feb 14; Vol. 20 (1), pp. 109. Date of Electronic Publication: 2020 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Cost-Benefit Analysis*
Comparative Genomic Hybridization/*economics
Karyotyping/*economics
Prenatal Diagnosis/*methods
Algorithms ; Aneuploidy ; Female ; Hong Kong ; Humans ; Polymerase Chain Reaction ; Pregnancy ; Public Health
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Autorzy:
Tung JY; Department of Paediatrics, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Lai SHY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong.
Au SLK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.
Yeung KS; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong.
Kan ASY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.
Loong F; Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.
DeLeón DD; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Kalish JM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA USA.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Ganguly A; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong.
Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.
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Źródło:
International journal of pediatric endocrinology [Int J Pediatr Endocrinol] 2020; Vol. 2020, pp. 13. Date of Electronic Publication: 2020 Jul 10.
Typ publikacji:
Case Reports
Raport
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Tytuł:
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Autorzy:
Leung GKC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Wong WHS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Tsang MHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Yu MHC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Pei SLC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Yeung KS; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Mok GTK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Lee CP; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.
Hui APW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.
Tang MHY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, HKSAR, China.
Chan KYK; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, HKSAR, China.
Liu APY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Yang W; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China.
Sham PC; Department of Psychiatry, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, HKSAR, China.
Kan ASY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China. .; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, HKSAR, China. .
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Room 103, 1/F, New Clinical Building, Hong Kong, Hong Kong Special Administrative Region, China. .; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China. .; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, HKSAR, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2018 Oct 25; Vol. 11 (1), pp. 93. Date of Electronic Publication: 2018 Oct 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome Sequencing*
CHARGE Syndrome/*genetics
Ciliary Motility Disorders/*genetics
Noonan Syndrome/*genetics
Amniotic Fluid/metabolism ; Axonemal Dyneins/genetics ; CHARGE Syndrome/diagnosis ; Ciliary Motility Disorders/diagnosis ; DNA/isolation & purification ; DNA/metabolism ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; Female ; Fetus/metabolism ; Humans ; Noonan Syndrome/diagnosis ; Phenotype ; Placenta/metabolism ; Pregnancy ; Prenatal Diagnosis ; Proto-Oncogene Proteins c-raf/genetics ; Ultrasonography, Prenatal
Czasopismo naukowe
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Tytuł:
Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets.
Autorzy:
Chiu ATG; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China.
Chung CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China.
Wong WHS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China.
Lee SL; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Aug 28; Vol. 13 (1), pp. 147. Date of Electronic Publication: 2018 Aug 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Datasets as Topic*
International Classification of Diseases*
Delivery of Health Care/*economics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Cost of Illness ; Female ; Hong Kong ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Prevalence ; Rare Diseases ; Young Adult
Czasopismo naukowe
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Tytuł:
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.
Autorzy:
Angin, Céline (AUTHOR)
Mazzucato, Monica (AUTHOR)
Weber, Stefanie (AUTHOR)
Kirch, Kurt (AUTHOR)
Abdel Khalek, Waed (AUTHOR)
Ali, Houda (AUTHOR)
Maiella, Sylvie (AUTHOR)
Olry, Annie (AUTHOR)
Jannot, Anne-Sophie (AUTHOR)
Rath, Ana (AUTHOR)
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Źródło:
Orphanet Journal of Rare Diseases. 1/27/2024, Vol. 19 Issue 1, p1-9. 9p.
Czasopismo naukowe
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Tytuł:
QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.
Autorzy:
Pan, Tianxin (AUTHOR)
Wu, You (AUTHOR)
Buchanan, James (AUTHOR)
Goranitis, Ilias (AUTHOR)
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Źródło:
Health & Quality of Life Outcomes. 12/12/2023, Vol. 21 Issue 1, p1-13. 13p.
Czasopismo naukowe
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Wyświetlanie 1-20 z 338

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