المؤلفون: Nahorski, MS, Reiman, A, Lim, DHK, Nookala, RK, Seabra, L, Lu, XH, Fenton, J, Boora, U, Nordenskjold, M, Latif, F, Hurst, LD, Maher, ER

المصدر: Human mutation. 32(8):921-929

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123077488

المؤلفون: Forde C; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Lim DHK; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Alwan Y; Department of Clinical Radiology, Manchester Royal Infirmary, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Burghel G; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Butland L; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK., Cleaver R; Peninsula Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK., Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK., Evans DG; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Health Innovation Manchester, Manchester, UK., Hanson H; South West Thames Regional Genetics Service, St George's NHS Foundation Trust, London, UK., Lalloo F; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Oliveira P; Department of Histopathology, The Christie NHS Foundation Trust, Manchester, UK., Vialard L; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Wallis Y; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Maher ER; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK; Cambridge Biomedical Research Centre, National Institute for Health Research, Cambridge, UK., Woodward ER; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Health Innovation Manchester, Manchester, UK. Electronic address: Emma.Woodward@mft.nhs.uk.

المصدر: European urology oncology [Eur Urol Oncol] 2020 Dec; Vol. 3 (6), pp. 764-772. Date of Electronic Publication: 2019 Dec 09.

نوع المنشور: Journal Article; Observational Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101724904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2588-9311 (Electronic) Linking ISSN: 25889311 NLM ISO Abbreviation: Eur Urol Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma, Renal Cell/*diagnosis , Early Detection of Cancer/*methods , Fumarate Hydratase/*genetics , Kidney Neoplasms/*diagnosis , Leiomyomatosis/*complications , Neoplastic Syndromes, Hereditary/*complications , Skin Neoplasms/*complications , Uterine Neoplasms/*complications, Adolescent ; Adult ; Aged ; Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/mortality ; Carcinoma, Renal Cell/therapy ; DNA Mutational Analysis ; Early Detection of Cancer/statistics & numerical data ; Female ; Follow-Up Studies ; Genetic Testing/statistics & numerical data ; Humans ; Kidney/diagnostic imaging ; Kidney Neoplasms/genetics ; Kidney Neoplasms/mortality ; Kidney Neoplasms/therapy ; Leiomyomatosis/epidemiology ; Leiomyomatosis/genetics ; Leiomyomatosis/therapy ; Magnetic Resonance Imaging ; Male ; Medical History Taking ; Middle Aged ; Molecular Epidemiology ; Mutation ; Neoplasm Staging ; Neoplastic Syndromes, Hereditary/epidemiology ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/therapy ; Prognosis ; Skin Neoplasms/epidemiology ; Skin Neoplasms/genetics ; Skin Neoplasms/therapy ; United Kingdom/epidemiology ; Uterine Neoplasms/epidemiology ; Uterine Neoplasms/genetics ; Uterine Neoplasms/therapy ; Young Adult

SCR Disease Name: Hereditary leiomyomatosis and renal cell cancer

المؤلفون: Smith PS; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK., Whitworth J; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK., West H; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK., Cook J; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Gardiner C; West of Scotland Genetics Services, Queen Elizabeth University Hospital, Glasgow, UK., Lim DHK; West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Morrison PJ; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK., Hislop RG; East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK., Murray E; East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK., Tischkowitz M; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK., Warren AY; Department of Histopathology, Cambridge University NHS Foundation Trust and Cancer Research UK Cambridge Centre, Cambridge, UK., Woodward ER; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Health Innovation Manchester, Manchester, UK., Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.

مؤلفون مشاركون: NIHR Rare Disease BioResource; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.

المصدر: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2020 Jun; Vol. 59 (6), pp. 333-347. Date of Electronic Publication: 2020 Feb 05.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations*, Carcinoma, Renal Cell/*genetics , Kidney Neoplasms/*genetics, Acid Anhydride Hydrolases/genetics ; Adult ; Aged ; Carcinoma, Renal Cell/pathology ; Chromosome Breakpoints ; Chromosomes, Human, Pair 3/genetics ; Female ; Genetic Testing ; Humans ; Kidney Neoplasms/pathology ; Male ; Middle Aged ; Neoplasm Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Proto-Oncogene Proteins/genetics ; Sequence Analysis, DNA ; Tumor Suppressor Proteins/genetics ; ras Guanine Nucleotide Exchange Factors/genetics