Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Fiona S. Togneri"'
Autor:
Dominic J. McMullan, Stephanie Allen, Julie Vogt, Fiona S. Togneri, E Quinlan-Jones, Lisa Reali, Mark D. Kilby, Malgorzata Drozniewska
Publikováno v:
Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
Clinical Case Reports
Clinical Case Reports
Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prena
Publikováno v:
Genetics Research
Objective Non-invasive prenatal testing (NIPT) is increasingly being adopted as a screening test in the UK and is currently accessed through certain National Health Service healthcare systems or by private provision. This audit aims to describe reaso
Autor:
Rachel K. Morris, Denise Williams, Stephanie Allen, Fionnuala Mone, Ka Wang Cheung, E Quinlan-Jones, Dominic J. McMullan, Susan Hamilton, Hsu P. Chong, Fiona S. Togneri, Mark D. Kilby
Publikováno v:
Prenatal diagnosisREFERENCES. 39(12)
Objective Evaluate the diagnostic yield of prenatal submicroscopic chromosome anomalies using prenatal array comparative genomic hybridisation (aCGH). Method Prospective cohort study conducted between March 2013 and June 2017 including fetuses where
Autor:
Denise Williams, Stephanie Allen, Samantha Court, Elizabeth Young, Michael J. Griffiths, Mark D. Kilby, Fiona S. Togneri
Publikováno v:
Genetics Research
Background Non-invasive prenatal testing (NIPT) for the detection of foetal aneuploidy through analysis of cell-free DNA (cfDNA) in maternal blood is offered routinely by many healthcare providers across the developed world. This testing has recently
Autor:
E Tinkler-Hundal, Fiona Brew, Philip Quirke, Karen G. Spink, Fiona S. Togneri, Paula Wojtowicz, M Taylor, Assa Oumie, Henry M. Wood, Joseph M. Foster
Publikováno v:
BMC Medical Genomics
Background The importance of accurate and affordable mutation calling in fixed pathology samples is becoming increasingly important as we move into the era of personalised medicine. The Affymetrix OncoScan® Array platform is designed to produce acti
Autor:
Brendan O'Sullivan, Sofia Alyas, Philippe Taniere, Nayneeta Deshmukh, Mike Griffiths, Fabiana Ramos Vasques, Paula Wojtowicz, Adam J. Devall, Joseph M. Foster, Dominic J. McMullan, Karen G. Spink, Nicholas D. James, Richard T. Bryan, Maurice P. Zeegers, Douglas G. Ward, Kar Keung Cheng, Fiona S. Togneri, Assa Oumie
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 24(8). Nature Publishing Group
European Journal of Human Genetics, 24(8). Nature Publishing Group
Urothelial bladder cancers (UBCs) have heterogeneous clinical characteristics that are mirrored in their diverse genomic profiles. Genomic profiling of UBCs has the potential to benefit routine clinical practice by providing prognostic utility above
Autor:
Johanna Dieguez Navas, John Watkinson, Patrick J. Morrison, Martin L. Read, Christopher McCabe, Eamonn R. Maher, Neil V. Morgan, Mercedes Robledo, Eric Y. Lian, Dom Mcmullan, Stan B. Sidhu, Emma R. Woodward, Fiona S. Togneri, Joel Smith, Beth Bradshaw, Trevor Cole, Jon Hoffman, Lois M. Mulligan, Vicki Smith, Naomi C. Wake, Justin S. Gundara, Rachel M. Brown, Richard C. Trembath, Christopher Campbell, Yvonne Wallis, Michael A. Simpson, Fiona Eatock, Susan Stewart
Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2. However, some rare families with apparent MTC/CCH predisposition do not have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e774a5c94f9d1970ddf7cc55e6a173
https://www.repository.cam.ac.uk/handle/1810/254346
https://www.repository.cam.ac.uk/handle/1810/254346
Autor:
Fabiana Ramos Vasques, Phil Quirke, Fiona S. Togneri, Katherine E. Keating, Iris Halfpenny, Karen G. Spink, M Taylor, Debra Hau, Dominic J. McMullan, Fiona Brew, Paul Wallace Medlow, E Tinkler-Hundal, K Southward, Joseph M. Foster, Michael J. Griffiths, Keith McGreeghan-Crosby, Assa Oumie
Publikováno v:
BMC Medical Genomics
Background Adoption of new technology in both basic research and clinical settings requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a multiplexing tool that offers genome-wide copy number and loss of heterozygosity
Autor:
Denise Williams, Hannah Titheradge, Louise Brueton, Dominic J. McMullan, Fiona S. Togneri, Derek Lim
Publikováno v:
American journal of medical genetics. Part A. (7)
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity. It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. There is a high incidence of sec
Autor:
Dominic J. McMullan, Eric T. Fung, M Taylor, Phil Quirke, Karen G. Spink, Michael J. Griffiths, Sofia Alyas, Katherine E. Keating, Fiona S. Togneri, E Tinkler-Hundal, Paula Wojtowicz, Jeanette Schmidt, Joseph M. Foster, K Southward, Henry M. Wood, Assa Oumie, Fiona Brew
Publikováno v:
Cancer Research. 75:626-626
Objectives Copy number (CN) and somatic mutation (SM) analysis in tumors is rapidly gaining importance in cancer management as a tool for differential diagnosis, determination of prognosis, and selection of therapeutic. Genome-wide copy number and LO