المؤلفون: Gai W; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Wang G; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Lam WKJ; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Yuen LYP; Division of Genetic and Genomic Pathology, Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Jiang P; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Yu SCY; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Leung TY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Lau SL; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Lo YMD; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China., Chan KCA; Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, Hong Kong SAR, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.

المصدر: Clinical chemistry [Clin Chem] 2024 Jun 14. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

المؤلفون: Mak LS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, Hong Kong SAR, China.; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Li X; Department of Pathology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Chan WYK; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Leung AWK; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Cheuk DKL; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Yuen LYP; Department of Pathology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., So JCC; Department of Pathology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Ha SY; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Liu APY; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.

المصدر: Frontiers in oncology [Front Oncol] 2024 Mar 26; Vol. 14, pp. 1364199. Date of Electronic Publication: 2024 Mar 26 (Print Publication: 2024).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

المؤلفون: Lau SHY; Department of Paediatrics, Prince of Wales Hospital, Hong Kong SAR, China., Chan EYH; Paediatric Nephrology Centre, Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong SAR, China., Yuen LYP; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Ng WF; Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China., Ma ALT; Paediatric Nephrology Centre, Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong SAR, China.

المصدر: Hong Kong medical journal = Xianggang yi xue za zhi [Hong Kong Med J] 2023 Aug; Vol. 29 (4), pp. 351-354. Date of Electronic Publication: 2023 Jul 12.

نوع المنشور: Case Reports; Journal Article; Comment

بيانات الدورية: Publisher: Hong Kong Academy of Medicine Press Country of Publication: China NLM ID: 9512509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1024-2708 (Print) Linking ISSN: 10242708 NLM ISO Abbreviation: Hong Kong Med J Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulonephritis, Membranoproliferative*/genetics , Glomerulonephritis*, Humans ; Diacylglycerol Kinase/genetics ; Mutation

المؤلفون: Lau JCC, McCluggage WG, Yuen LYP, Shing MMK, Chan GCF, Yam FSD, Leung MWY, Ng WF, Liu APY

المصدر: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists [Int J Gynecol Pathol] 2023 Jul 01; Vol. 42 (4), pp. 421-425. Date of Electronic Publication: 2022 Aug 03.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8214845 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7151 (Electronic) Linking ISSN: 02771691 NLM ISO Abbreviation: Int J Gynecol Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Sertoli-Leydig Cell Tumor*/diagnosis , Sertoli-Leydig Cell Tumor*/genetics , Sertoli-Leydig Cell Tumor*/pathology , Ovarian Neoplasms*/diagnosis , Ovarian Neoplasms*/pathology , Sex Cord-Gonadal Stromal Tumors*/diagnosis , Sex Cord-Gonadal Stromal Tumors*/genetics , Sex Cord-Gonadal Stromal Tumors*/pathology , Neoplastic Syndromes, Hereditary*/diagnosis, Male ; Humans ; Female ; Ribonuclease III/genetics ; Diagnosis, Differential ; DEAD-box RNA Helicases/genetics

المؤلفون: Chan YC; LKS Faculty of Medicine, The University of Hong Kong, Kowloon, Hong Kong SAR, China., Kan ANC; Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Yuen LYP; Division of Genetic and Genomic Pathology, Department of Pathology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Wan IYP; Department of Surgery, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, Hong Kong SAR, China., Fung KKF; Department of Radiology, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Cheung YF; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Kowloon, Hong Kong SAR, China., Leung KKY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Ku DTL; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China., Liu APY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Kowloon, Hong Kong SAR, China.

المصدر: Frontiers in pediatrics [Front Pediatr] 2022 Jun 17; Vol. 10, pp. 885068. Date of Electronic Publication: 2022 Jun 17 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Fan POL; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China., Leung KT; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong SAR, China., Chan KYY; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China., Leung AWK; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Department of Paediatrics & Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China., Lam GKS; Department of Paediatrics & Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China., Chow TTW; Department of Paediatrics & Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China., Cheng FWT; Department of Paediatrics & Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China., Yuen LYP; Department of Pathology, The Hong Kong Children's Hospital, Hong Kong SAR, China., Moriyama T; Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Yang JJ; Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Li CK; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.; Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong SAR, China.; Department of Paediatrics & Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong SAR, China.

المصدر: Pediatric hematology and oncology [Pediatr Hematol Oncol] 2022 Apr; Vol. 39 (3), pp. 254-266. Date of Electronic Publication: 2021 Oct 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8700164 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-0669 (Electronic) Linking ISSN: 08880018 NLM ISO Abbreviation: Pediatr Hematol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Antimetabolites, Antineoplastic*/adverse effects , Antimetabolites, Antineoplastic*/therapeutic use , Mercaptopurine*/adverse effects , Mercaptopurine*/therapeutic use , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics, Child ; China ; Humans ; Methyltransferases/genetics ; Multidrug Resistance-Associated Proteins/genetics ; Pyrophosphatases/genetics

المؤلفون: Chong SC; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong.; The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics, Shatin, Hong Kong., Hon KL; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong., Yuen LYP; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong., Choi PCL; Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong., Ng WGG; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong., Chiu TW; The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics, Shatin, Hong Kong.; Division of Plastic Reconstructive and Aesthetic Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong.

المصدر: The Journal of dermatological treatment [J Dermatolog Treat] 2021 Feb; Vol. 32 (1), pp. 29-32. Date of Electronic Publication: 2020 Nov 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8918133 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-1753 (Electronic) Linking ISSN: 09546634 NLM ISO Abbreviation: J Dermatolog Treat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Counseling*, Collagen Type VII/*genetics , Epidermolysis Bullosa Dystrophica/*pathology, Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa, Junctional/genetics ; Epidermolysis Bullosa, Junctional/pathology ; Female ; Homozygote ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Sequence Deletion ; Young Adult

SCR Disease Name: Epidermolysis bullosa dystrophica, Pasini type

المؤلفون: Suiter CC; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Moriyama T; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Matreyek KA; Department of Genome Sciences, University of Washington, Seattle, WA 98195., Yang W; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Scaletti ER; Department of Biochemistry and Biophysics, Arrhenius Laboratories for Natural Sciences, Stockholm University, 106 91 Stockholm, Sweden.; Department of Experimental Medical Science,Lund University, 221 00 Lund, Sweden., Nishii R; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Yang W; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Hoshitsuki K; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Singh M; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, 160012 Chandigarh, India., Trehan A; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, 160012 Chandigarh, India., Parish C; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Smith C; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Li L; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Bhojwani D; Department of Pediatrics, Children's Hospital of Los Angeles, Los Angeles, CA 90027., Yuen LYP; Department of Pathology, Hong Kong Children's Hospital, Hong Kong., Li CK; Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong., Li CH; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong., Yang YL; Department of Laboratory Medicine and Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei 10617, Taiwan., Walker GJ; Department of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.; IBD Pharmacogenetics Group, University of Exeter, Exeter EX2 5DW, England., Goodhand JR; Department of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.; IBD Pharmacogenetics Group, University of Exeter, Exeter EX2 5DW, England., Kennedy NA; Department of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.; IBD Pharmacogenetics Group, University of Exeter, Exeter EX2 5DW, England., Klussmann FA; Unidad Nacional de Oncología Pediátrica, Guatemala City 01011, Guatemala.; Department of Pediatrics, Francisco Marroquin Medical School, Guatemala City 01011, Guatemala., Bhatia S; Division of Pediatric Hematology/Oncology, Institute for Cancer Outcomes and Survivorship, School of Medicine, University of Alabama, Birmingham, AL 35294., Relling MV; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105., Kato M; Department of Pediatric Hematology and Oncology Research, National Center for Child Health and Development, Tokyo 157-8535, Japan., Hori H; Department of Pediatrics, Mie University Graduate School of Medicine, Mie 514-8507, Japan., Bhatia P; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, 160012 Chandigarh, India., Ahmad T; Department of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.; IBD Pharmacogenetics Group, University of Exeter, Exeter EX2 5DW, England., Yeoh AEJ; Centre for Translational Research in Acute Leukaemia, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117599.; Cancer Science Institute of Singapore, National University of Singapore, Singapore 117597., Stenmark P; Department of Biochemistry and Biophysics, Arrhenius Laboratories for Natural Sciences, Stockholm University, 106 91 Stockholm, Sweden.; Department of Experimental Medical Science,Lund University, 221 00 Lund, Sweden., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA 98195.; Department of Bioengineering, University of Washington, Seattle, WA 98195.; Genetic Networks Program, CIFAR, Toronto, ON M5G 1M1, Canada., Yang JJ; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105; jun.yang@stjude.org.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Mar 10; Vol. 117 (10), pp. 5394-5401. Date of Electronic Publication: 2020 Feb 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Pharmacogenomic Variants*, Antimetabolites/*administration & dosage , Antimetabolites/*toxicity , Mercaptopurine/*administration & dosage , Mercaptopurine/*toxicity , Pyrophosphatases/*genetics, Alleles ; Amino Acid Substitution ; Dose-Response Relationship, Drug ; Endpoint Determination ; Enzyme Stability ; HEK293 Cells ; Humans ; Mutation, Missense ; Precision Medicine ; Protein Conformation, alpha-Helical/genetics ; Pyrophosphatases/chemistry ; Risk

المؤلفون: Yu AC; Codex Genetics Limited, Shatin, Hong Kong.; School of Life Sciences, The Chinese University of Hong Kong, Shatin, China., Yim AK; Codex Genetics Limited, Shatin, Hong Kong.; Computational and System Biology Program, Washington University School of Medicine, Saint Louis, MO, United States., Chan AY; Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, China., Yuen LYP; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, China., Au WC; Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin, China., Cheng THT; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, China., Lin X; School of Life Sciences, The Chinese University of Hong Kong, Shatin, China., Li JW; Codex Genetics Limited, Shatin, Hong Kong., Chan LWL; Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong., Mok VCT; Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin, China., Chan TF; Codex Genetics Limited, Shatin, Hong Kong.; School of Life Sciences, The Chinese University of Hong Kong, Shatin, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin, China., Chan HYE; Codex Genetics Limited, Shatin, Hong Kong.; School of Life Sciences, The Chinese University of Hong Kong, Shatin, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin, China.

المصدر: Frontiers in neuroscience [Front Neurosci] 2019 Dec 11; Vol. 13, pp. 1324. Date of Electronic Publication: 2019 Dec 11 (Print Publication: 2019).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE