Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Stephanie Greville‐Heygate"'
Autor:
Alan D McCrorie, Susannah Ashfield, Aislinn Begley, Colin Mcilmunn, Patrick J Morrison, Clinton Boyd, Bryony Eccles, Stephanie Greville‐Heygate, Ellen R Copson, Ramsey I Cutress, Diana M Eccles, Kienan I Savage, Stuart A McIntosh
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 6, Iss 2, Pp 146-153 (2020)
Abstract Multifocal (MF)/multicentric (MC) breast cancer is generally considered to be where two or more breast tumours are present within the same breast, and is seen in ~10% of breast cancer cases. This study investigates the prevalence of multifoc
Externí odkaz:
https://doaj.org/article/2072603710f74a5c9717d8bef04c27a2
Autor:
William J. Tapper, Ramsey I. Cutress, Tom Maishman, Diana Eccles, Stephanie Greville-Heygate, Louise J. Jones, Ellen Copson, Linda Haywood, Alison M. Dunning
Publikováno v:
JCO Precis Oncol
PURPOSE Checkpoint kinase 2 ( CHEK2) is frequently included in multigene panels. We describe the associated outcomes among carriers of CHEK2 pathogenic variants in young patients with symptomatic breast cancer. PATIENTS AND METHODS Participants (N =
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c586d2da94fa80ed726c22425862aed
https://doi.org/10.1200/po.19.00178
https://doi.org/10.1200/po.19.00178
Autor:
David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M.B. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, S.C. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson
Publikováno v:
Genetics in Medicine
Blyth, M, Cox, H, Donnelly, D E, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, A, Rea, G, Robertson, L & Suri, M & Jackson, A P 2020, ' Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy ', Genetics in Medicine, vol. 23, no. 2, pp. 408–414 . https://doi.org/10.1038/s41436-020-00980-3
Blyth, M, Cox, H, Donnelly, D E, Greenhalgh, L, Greville-Heygate, S, Harrison, V, Lachlan, K, McKenna, C, Quigley, A, Rea, G, Robertson, L & Suri, M & Jackson, A P 2020, ' Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy ', Genetics in Medicine, vol. 23, no. 2, pp. 408–414 . https://doi.org/10.1038/s41436-020-00980-3
PurposeLamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies. Phenotypes r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c3afeb46142409f18e86e168fe778a
Autor:
Marcie A. Steeves, Marjorlaine Willems, Siddharth Banka, Yline Capri, Michael J. Parker, Stephanie Greville-Heygate, Emma Clement, David Goudie, Vincent Cantagrel, Diana Rodriguez, Marlène Rio, Matthew Guille, Htoo A Wai, Anne Debant, Ajoy Sarkar, Fleur Vansenne, Frédéric Tran Mau-Them, Peter D Turnpenny, Audrey Putoux, Christine Fagotto-Kaufmann, Karine Siquier-Pernet, Bert B.A. de Vries, Boris Keren, Maxime Bonnet, Lydie Burglen, Sébastien Moutton, Marion Gérard, Susanne Schmidt, Diana Baralle, Sónia Barbosa, Benjamin Cogné, Damien Laouteouet, Amélie Piton, Helen Cox, Rebecca Mawby, Marie Vincent, Annie Godwin, Andrey V. Kajava, Sarju G. Mehta, Alexander J. M. Dingemans, Jozef Hertecant, Jayne Y. Hehir-Kwa, Gaetan Lesca
Publikováno v:
C4RCD Research Group 2020, ' Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106(3), 338-355. CELL PRESS
American Journal of Human Genetics, 106, 338-355
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106, 3, pp. 338-355
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩
American Journal of Human Genetics, 106(3), 338-355. CELL PRESS
American Journal of Human Genetics, 106, 338-355
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
American Journal of Human Genetics, 106, 3, pp. 338-355
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (3), pp.338-355. ⟨10.1016/j.ajhg.2020.01.018⟩
The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6feb0d914090bef0d0a94f376bcc6f
https://eprints.soton.ac.uk/438435/
https://eprints.soton.ac.uk/438435/
Autor:
Patrick J. Morrison, Ellen Copson, Stephanie Greville-Heygate, Colin McIlmunn, Kienan I. Savage, Susannah Ashfield, Bryony Eccles, Clinton Boyd, Ramsey I. Cutress, Alan D McCrorie, Stuart McIntosh, Aislinn Begley, Diana Eccles
Publikováno v:
McCrorie, A D, Ashfield, S, Begley, A, Mcilmunn, C, Morrison, P J, Boyd, C, Eccles, B, Greville-Heygate, S, Copson, E R, Cutress, R I, Eccles, D M, Savage, K I & McIntosh, S A 2020, ' Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers ', Journal of Pathology: Clinical Research, vol. 6, no. 2, pp. 146-153 . https://doi.org/10.1002/cjp2.155
The Journal of Pathology: Clinical Research, Vol 6, Iss 2, Pp 146-153 (2020)
The Journal of Pathology: Clinical Research
The Journal of Pathology: Clinical Research, Vol 6, Iss 2, Pp 146-153 (2020)
The Journal of Pathology: Clinical Research
Multifocal/multicentric breast cancer is generally considered to be where two or more breast tumours are present within the same breast, and is seen in ∼10% of breast cancer cases. This study investigates the prevalence of multifocality/multicentri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b23f7c02a3afd3dbab0ca78dfab0e1
https://doi.org/10.1101/19006478
https://doi.org/10.1101/19006478
Autor:
Arjen R. Mensenkamp, Paolo Radice, Mark E. Robson, Emma Tudini, Amanda B. Spurdle, Susan M. Domchek, Melissa A. Brown, Logan C. Walker, Miguel de la Hoya, Sean V. Tavtigian, Diana Eccles, Leslie Burke, Thilo Dörk, Clare Turnbull, Antonis C. Antoniou, Michael T. Parsons, Stephanie Greville-Heygate, Maaike P.G. Vreeswijk, Marc Tischkowitz, Alvaro N.A. Monteiro, Helen V. Firth
Publikováno v:
Journal of Medical Genetics, 56, 6, pp. 347-357
Journal of Medical Genetics, 56, 347-357
Journal of Medical Genetics, 56(6), 347-357. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics, 56, 347-357
Journal of Medical Genetics, 56(6), 347-357. BMJ PUBLISHING GROUP
Journal of Medical Genetics
The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67312ed4dc823e52d80c5308bf50e7e
https://hdl.handle.net/2066/205066
https://hdl.handle.net/2066/205066
Autor:
Usha Kini, Jonathan A. Bernstein, Matthew E. Hurles, Jennifer Glass, Katherine Selby, Han G. Brunner, Christiane Zweier, Ammar Husami, Megan Landsverk, Robert J. Hopkin, Mary K. Kukolich, Andrea Hanson-Kahn, R. Frank Kooy, Koenraad Devriendt, Daniele Merico, Clara D.M. van Karnebeek, Anne Gregor, Yoyo W. Y. Chu, Nicola Foulds, Brian H.Y. Chung, Maja Tarailo-Graovac, Frank McGehee, Christian R. Marshall, Bert B.A. de Vries, Alberto Fernández-Jaén, Stephanie Greville-Heygate, Kate Tatton Brown, Nathalie Van der Aa, Dorothea Gadzicki, Sara Álvarez, Dimitri J. Stavropoulos, David Chitayat, Margot I. Van Allen, Kathleen Collins, Ralitza H. Gavrilova, Katie Wusik, Janneke H M Schuurs-Hoeijmakers, Thomas A. Burrow
Publikováno v:
American Journal of Medical Genetics. Part A, 170, 3, pp. 670-5
American Journal of Medical Genetics. Part A, 170, 670-5
American journal of medical genetics : part A
American journal of medical genetics. Part A, 170(3), 670-675. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 670-5
American journal of medical genetics : part A
American journal of medical genetics. Part A, 170(3), 670-675. Wiley-Liss Inc.
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18e85f0ea214a68a5c5253ac6992689
https://doi.org/10.1002/ajmg.a.37476
https://doi.org/10.1002/ajmg.a.37476
Publikováno v:
JAMA oncology. 5(1)
IMPORTANCE: Since the discovery of BRCA1 and BRCA2, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian cancer, or both; however, it is unclear whether these findings represent the com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c169b80cfc9ffa0c271a6c66ed9590f7
https://pubmed.ncbi.nlm.nih.gov/30128536
https://pubmed.ncbi.nlm.nih.gov/30128536
Autor:
Stephanie Greville-Heygate, Susanne Schmidt, Diana Baralle, Eleanor G. Seaby, Anne Debant, Sarah Ennis, M. Reza Jabalameli, Sarju G. Mehta, Reuben J. Pengelly, Christine Fagotto-Kaufmann, Michael J. Parker, David Goudie, Catherine Mercer
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (11), pp.735--742. ⟨10.1136/jmedgenet-2016-103942⟩
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (11), pp.735--742. ⟨10.1136/jmedgenet-2016-103942⟩
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ccb013cda5f2da0e87a1fe211e6d836
https://hal.archives-ouvertes.fr/hal-01878037
https://hal.archives-ouvertes.fr/hal-01878037