Neurofibromatosis type 2 discordance in monozygous twins

Autor: Simon Tobi, Mary Perry, Philip Smith, Andrew J Wallace, S. Amico, D. G. R. Evans

Publikováno v: Familial Cancer. 19:37-40

Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by pathogenic variants in the NF2 gene. The pathogenic variant is either inherited or obtained by de novo mutation, characterised by the presence of schwannomas, meningiomas and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d35726f6f2d7b431dc48bd34cb93a945
https://doi.org/10.1007/s10689-019-00148-2

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

Autor: Omar N. Pathmanaban, Mary Perry, Patrick R. Axon, Dorothy Halliday, Miriam J. Smith, Owen M. Thomas, Roger Laitt, Allyson Parry, Juliette Gair, Mark Kellett, Elaine F. Harkness, Emma Stapleton, Rosalie E. Ferner, Simon R. Freeman, Andrew J Wallace, Simon K.L. Lloyd, Scott A. Rutherford, Naomi L. Bowers, Andrew T. King, Shazia K. Afridi, Raji Anup, Simon Tobi, D. Gareth Evans, Charlotte Hammerbeck-Ward

Publikováno v: The English Specialist NF2 research group 2019, ' Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing ', Genetics in Medicine, vol. 21, no. 7, pp. 1525-1533 . https://doi.org/10.1038/s41436-018-0384-y

Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods: Two large databases of individuals fulfilling NF2 criteria (n=1361) and those tested for NF2 variants with criteria short of diagnosis (n=

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19696baad021980a995634cd55e5d0b5
https://doi.org/10.1038/s41436-018-0384-y

Schwannomatosis: a genetic and epidemiological study

Autor: Simon R. Freeman, Owen M. Thomas, Claire Hartley, Chris Duff, Roger Laitt, Omar N. Pathmanaban, Miriam J. Smith, Andrew J Wallace, D. Gareth Evans, Simon K W Lloyd, Rosalie E. Ferner, John Ealing, Naomi L. Bowers, Scott A. Rutherford, Amy Taylor, Charlotte Hammerbeck-Ward, Dorothy Halliday, Mark Kellett, Simon Tobi, Andrew T. King, Elaine F. Harkness

Publikováno v: Evans, D G, Bowers, N L, Tobi, S, Hartley, C, Wallace, A J, King, A T, Lloyd, S K W, Rutherford, S A, Hammerbeck-Ward, C, Pathmanaban, O N, Freeman, S R, Ealing, J, Kellett, M, Laitt, R, Thomas, O, Halliday, D, Ferner, R, Taylor, A, Duff, C, Harkness, E F & Smith, M J 2018, ' Schwannomatosis: a genetic and epidemiological study ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, no. 11, pp. 1215-1219 . https://doi.org/10.1136/jnnp-2018-318538

ObjectivesSchwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29c0c07933bb46d6a6fcfe1285e610e
https://doi.org/10.1136/jnnp-2018-318538

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

Autor: Sarah Kitson, Andrew J Wallace, Simon Tobi, Rhona J McVey, Ian M. Frayling, Neil A J Ryan, D. Gareth Evans, Vanitha N Sivalingam, Sancha Bunstone, Naomi L. Bowers, James Bolton, Neal C Ramchander, Ioana E Mosneag, Tristan Snowsill, Emma J Crosbie, Raymond Mcmahon, Helena O'Flynn, Shona Esquibel

Publikováno v: PLoS Medicine, Vol 17, Iss 9, p e1003263 (2020)
Ryan, N A J, Dawson, L (ed.), McMahon, R, Tobi, S, Snowsill, T, Esquibel, S, Wallace, A J, Bunstone, S, Bowers, N, Mosneag, I E, Kitson, S J, O’Flynn, H, Ramchander, N C, Sivalingam, V N, Frayling, I M, Bolton, J, McVey, R J, Evans, D G & Crosbie, E J 2020, ' The Proportion of Endometrial Tumours Associated with Lynch Syndrome (PETALS): a prospective cross-sectional study ', PL o S Medicine . https://doi.org/10.1371/journal.pmed.1003263, https://doi.org/10.1371/journal.pmed.1003263
Ryan, N A J, McMahon, R, Tobi, S, Snowsill, T, Esquibel, S, Wallace, A J, Bunstone, S, Bowers, N, Mosneag, I E, Kitson, S J, O'Flynn, H, Ramchander, N C, Sivalingam, V N, Frayling, I M, Bolton, J, McVey, R J, Evans, D G & Crosbie, E J 2020, ' The proportion of endometrial tumours associated with Lynch syndrome (PETALS) : A prospective cross-sectional study ', PLoS Medicine, vol. 17, no. 9, pp. e1003263 . https://doi.org/10.1371/journal.pmed.1003263
PLoS Medicine

Background Lynch syndrome (LS) predisposes to endometrial cancer (EC), colorectal cancer, and other cancers through inherited pathogenic variants affecting mismatch-repair (MMR) genes. Diagnosing LS in women with EC can reduce subsequent cancer morta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b384f46817b9b9b8f00d6e3e59ec6337
https://doi.org/10.1371/journal.pmed.1003263

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Autor: Karen Meaney, Elaine Gray, Jennifer Boyle, Malcolm Hawkins, David E. Barton, Simon C Ramsden, Rob Elles, Paul Metcalfe, Miriam Guitart, Simon Tobi, Anna O'Grady, J. Ross Hawkins

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics; Vol 19

Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8685649878e147e1960edaef4a637a