Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Togneri FS"" wg kryterium: Autor


Wyświetlanie 1-8 z 8
Tytuł :
Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.
Autorzy :
Togneri FS; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Allen SK; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Mann K; Genetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT, UK.
Holgado E; Molecular Genetics, TDL Genetics and Health Services Laboratories, London, UK.
Morgan S; All Wales Genetics Laboratory, Institute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, UK.
Pokaż więcej
Źródło :
Genetics research [Genet Res (Camb)] 2020 Sep 01; Vol. 102, pp. e7. Date of Electronic Publication: 2020 Sep 01.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
Autorzy :
Togneri FS; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Trust, Edgbaston, B15 2TG, UK.; Institute of Metabolism & Systems Research, University of Birmingham, B15 2TT, UK.
Young E; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Court S; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Williams D; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Griffiths MJ; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Allen SK; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, B15 2TG, UK.
Pokaż więcej
Źródło :
Genetics research [Genet Res (Camb)] 2019 Dec 09; Vol. 101, pp. e11. Date of Electronic Publication: 2019 Dec 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cell-Free Nucleic Acids/*analysis
Genetic Testing/*methods
Noninvasive Prenatal Testing/*methods
Aneuploidy ; Cell-Free Nucleic Acids/genetics ; Down Syndrome/genetics ; Female ; Fetus ; Humans ; Male ; National Health Programs ; Pregnancy ; Prenatal Diagnosis/methods ; Prospective Studies ; Reproducibility of Results ; Retrospective Studies ; Sensitivity and Specificity ; State Medicine ; Trisomy/genetics ; Trisomy 13 Syndrome/genetics ; United Kingdom
Czasopismo naukowe
Tytuł :
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Autorzy :
Chong HP; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Hamilton S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Mone F; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Cheung KW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Togneri FS; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Morris RK; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Quinlan-Jones E; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Williams D; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Allen S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
McMullan DJ; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Women's and Children's NHS Foundation Trust, Birmingham, UK.
Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
Pokaż więcej
Źródło :
Prenatal diagnosis [Prenat Diagn] 2019 Nov; Vol. 39 (12), pp. 1064-1069. Date of Electronic Publication: 2019 Aug 22.
Typ publikacji :
Evaluation Study; Journal Article
MeSH Terms :
Chromosome Aberrations*/embryology
Comparative Genomic Hybridization*/methods
Fetus/*abnormalities
Fetus/*diagnostic imaging
Prenatal Diagnosis/*methods
Adult ; Aneuploidy ; Cohort Studies ; DNA Copy Number Variations ; Female ; Fetus/metabolism ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/embryology ; Gestational Age ; Humans ; Karyotyping ; Male ; Predictive Value of Tests ; Pregnancy ; Prospective Studies ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing.
Autorzy :
Wood HM; Pathology and Tumour Biology, Leeds Institute of Cancer and Pathology, Leeds, UK. .
Foster JM; Affymetrix UK Ltd, High Wycombe, UK.
Taylor M; Pathology and Tumour Biology, Leeds Institute of Cancer and Pathology, Leeds, UK.
Tinkler-Hundal E; Pathology and Tumour Biology, Leeds Institute of Cancer and Pathology, Leeds, UK.
Togneri FS; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Wojtowicz P; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Oumie A; Affymetrix UK Ltd, High Wycombe, UK.
Spink KG; Affymetrix UK Ltd, High Wycombe, UK.
Brew F; Affymetrix UK Ltd, High Wycombe, UK.
Quirke P; Pathology and Tumour Biology, Leeds Institute of Cancer and Pathology, Leeds, UK.
Pokaż więcej
Źródło :
BMC medical genomics [BMC Med Genomics] 2017 Mar 18; Vol. 10 (1), pp. 17. Date of Electronic Publication: 2017 Mar 18.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
High-Throughput Nucleotide Sequencing*
Oligonucleotide Array Sequence Analysis*
Polymerase Chain Reaction*
DNA Mutational Analysis/*methods
Neoplasms/*genetics
Humans
Czasopismo naukowe
Tytuł :
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA.
Autorzy :
Togneri FS; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Ward DG; Institute of Cancer & Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Foster JM; Affymetrix UK Ltd, High Wycombe, UK.
Devall AJ; Institute of Cancer & Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Wojtowicz P; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Alyas S; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Vasques FR; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Oumie A; Affymetrix UK Ltd, High Wycombe, UK.
James ND; Cancer Research Unit, University of Warwick, Coventry, UK.
Cheng KK; School of Health and Population Sciences, University of Birmingham, Birmingham, UK.
Zeegers MP; Department of Complex Genetics, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Centre, The Netherlands.
Deshmukh N; Institute of Cancer & Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
O'Sullivan B; Department of Histopathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Taniere P; Department of Histopathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Spink KG; Affymetrix UK Ltd, High Wycombe, UK.
McMullan DJ; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Griffiths M; West Midland Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Bryan RT; Institute of Cancer & Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Pokaż więcej
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Aug; Vol. 24 (8), pp. 1167-74. Date of Electronic Publication: 2016 Jan 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Biomarkers, Tumor/*urine
Carcinoma/*genetics
DNA, Neoplasm/*urine
Urinary Bladder Neoplasms/*genetics
Biomarkers, Tumor/genetics ; Carcinoma/pathology ; Carcinoma/urine ; Chromosome Aberrations ; DNA, Neoplasm/genetics ; Humans ; Urinary Bladder Neoplasms/pathology ; Urinary Bladder Neoplasms/urine ; Urothelium/metabolism ; Urothelium/pathology
Czasopismo naukowe
Tytuł :
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Autorzy :
Smith J; Centre for Rare Diseases and Personalised Medicine.
Read ML; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
Hoffman J; West Midlands Regional Genetics Service.
Brown R; Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham B15 2TH, UK.
Bradshaw B; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Campbell C; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.
Cole T; West Midlands Regional Genetics Service.
Navas JD; Human Biomaterials Resource Centre, College of Medical and Dental Sciences, University of Birmingham, Vincent Drive, Edgbaston B15 2TT, UK.
Eatock F; Department of Endocrine Surgery, Belfast Health and Social Care Trust, Royal Victoria Hospital, Belfast, Northern Ireland, UK.
Gundara JS; Cancer Genetics, Level 9, Kolling Building and Endocrine Surgical Unit, Royal North Shore Hospital, University of Sydney, Pacific Highway, St Leonards, NSW 2065, Australia.
Lian E; Division of Cancer Biology and Genetics, Cancer Research Institute, Queen's University, Kingston, Canada.
Mcmullan D; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Morgan NV; Centre for Rare Diseases and Personalised Medicine.
Mulligan L; Division of Cancer Biology and Genetics, Cancer Research Institute, Queen's University, Kingston, Canada.
Morrison PJ; Centre for Cancer Research and Cell Biology, Queen's University of Belfast, 97 Lisburn Road, Belfast BT9 7AE, UK.
Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
Simpson MA; Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK.
Smith VE; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
Stewart S; West Midlands Regional Genetics Service.
Trembath RC; Queen Mary University of London, Barts and The London School of Medicine and Dentistry, London, UK.
Sidhu S; Cancer Genetics, Level 9, Kolling Building and Endocrine Surgical Unit, Royal North Shore Hospital, University of Sydney, Pacific Highway, St Leonards, NSW 2065, Australia.
Togneri FS; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Wake NC; Centre for Rare Diseases and Personalised Medicine.
Wallis Y; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Watkinson JC; Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham B15 2TH, UK.
Maher ER; Centre for Rare Diseases and Personalised Medicine, Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK and.
McCabe CJ; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
Woodward ER; Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK .
Pokaż więcej
Źródło :
Human molecular genetics [Hum Mol Genet] 2016 May 01; Vol. 25 (9), pp. 1836-45. Date of Electronic Publication: 2016 Mar 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation, Neoplastic*
Carcinoma, Medullary/*congenital
Estrogen Receptor beta/*genetics
Germ-Line Mutation/*genetics
Multiple Endocrine Neoplasia Type 2a/*genetics
Multiple Endocrine Neoplasia Type 2a/*metabolism
Proto-Oncogene Proteins c-ret/*metabolism
Thyroid Neoplasms/*genetics
Thyroid Neoplasms/*metabolism
Adult ; Carcinoma, Medullary/genetics ; Carcinoma, Medullary/metabolism ; Carcinoma, Medullary/pathology ; Cell Proliferation ; Disease Susceptibility ; Genotype ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a/pathology ; Pedigree ; Proto-Oncogene Proteins c-ret/genetics ; Thyroid Neoplasms/pathology ; Tumor Cells, Cultured ; Up-Regulation ; Young Adult
SCR Disease Name :
Familial medullary thyroid carcinoma
Czasopismo naukowe
Tytuł :
Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome tumour profiling.
Autorzy :
Foster JM; Affymetrix UK Ltd, High Wycombe, UK. .
Oumie A; Affymetrix UK Ltd, High Wycombe, UK. .
Togneri FS; West Midlands Regional Genetics Laboratory, Birmingham, UK. Fiona.Togneri@bwnft.nhs.uk.
Vasques FR; West Midlands Regional Genetics Laboratory, Birmingham, UK. .
Hau D; West Midlands Regional Genetics Laboratory, Birmingham, UK. .
Taylor M; Leeds Institute of Cancer and Pathology, Section of Tumour Biology and Pathology, Leeds University, Leeds, UK. .
Tinkler-Hundal E; Leeds Institute of Cancer and Pathology, Section of Tumour Biology and Pathology, Leeds University, Leeds, UK. .
Southward K; Leeds Institute of Cancer and Pathology, Section of Tumour Biology and Pathology, Leeds University, Leeds, UK. .
Medlow P; Almac Diagnostics, Craigavon, Northern Ireland, UK. .
McGreeghan-Crosby K; Almac Diagnostics, Craigavon, Northern Ireland, UK. .
Halfpenny I; Almac Diagnostics, Craigavon, Northern Ireland, UK. .
McMullan DJ; West Midlands Regional Genetics Laboratory, Birmingham, UK. .
Quirke P; Leeds Institute of Cancer and Pathology, Section of Tumour Biology and Pathology, Leeds University, Leeds, UK. .
Keating KE; Almac Diagnostics, Craigavon, Northern Ireland, UK. .
Griffiths M; West Midlands Regional Genetics Laboratory, Birmingham, UK. .
Spink KG; Affymetrix UK Ltd, High Wycombe, UK. .
Brew F; Affymetrix UK Ltd, High Wycombe, UK. .
Pokaż więcej
Źródło :
BMC medical genomics [BMC Med Genomics] 2015 Feb 18; Vol. 8, pp. 5. Date of Electronic Publication: 2015 Feb 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Clinical Laboratory Techniques/*standards
Gene Expression Profiling/*methods
Neoplasms/*genetics
Oligonucleotide Array Sequence Analysis/*methods
Tissue Fixation/*methods
DNA Mutational Analysis ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Loss of Heterozygosity ; Male ; Mutation ; Neoplasms/metabolism ; Paraffin Embedding ; Quality Control ; Reproducibility of Results ; Sensitivity and Specificity ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.
Autorzy :
Hillman SC; School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham, UK.
McMullan DJ
Hall G
Togneri FS
James N
Maher EJ
Meller CH
Williams D
Wapner RJ
Maher ER
Kilby MD
Pokaż więcej
Źródło :
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2013 Jun; Vol. 41 (6), pp. 610-20. Date of Electronic Publication: 2013 May 07.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't; Review; Systematic Review
MeSH Terms :
Chromosome Disorders/*diagnosis
Microarray Analysis/*methods
Prenatal Diagnosis/*methods
Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping/methods ; Pregnancy ; Prospective Studies ; Ultrasonography, Prenatal/methods
Czasopismo naukowe
    Wyświetlanie 1-8 z 8

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies