Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Neil A.J. Ryan"'
Publikováno v:
Gynecologic Oncology Reports, Vol 22, Iss C, Pp 108-109 (2017)
Externí odkaz:
https://doaj.org/article/295947a200e64ff891ce13906a0ea011
Autor:
Cemsel Bafligil, Deborah J. Thompson, Artitaya Lophatananon, Neil A.J. Ryan, Miriam J. Smith, Joe Dennis, Krisztina Mekli, Tracy A. O’Mara, D. Gareth Evans, Emma J. Crosbie
Publikováno v:
Genetics in Medicine. 24:1847-1856
Single-nucleotide variations (SNVs) (formerly single-nucleotide polymorphism [SNV]) influence genetic predisposition to endometrial cancer. We hypothesized that a polygenic risk score (PRS) comprising multiple SNVs may improve endometrial cancer risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c229210434b2f6b64f1b82c4f0fcbfcf
https://doi.org/10.1016/j.gim.2022.05.014
https://doi.org/10.1016/j.gim.2022.05.014
Autor:
Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref
Publikováno v:
Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017
BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf
Autor:
Emma J. Crosbie, Neil A.J. Ryan, Mark J. Arends, Tjalling Bosse, John Burn, Joanna M. Cornes, Robin Crawford, Diana Eccles, Ian M. Frayling, Sadaf Ghaem-Maghami, Heather Hampel, Noah D. Kauff, Henry C. Kitchener, Sarah J. Kitson, Ranjit Manchanda, Raymond F.T. McMahon, Kevin J. Monahan, Usha Menon, Pål Møller, Gabriela Möslein, Adam Rosenthal, Peter Sasieni, Mourad W. Seif, Naveena Singh, Pauline Skarrott, Tristan M. Snowsill, Robert Steele, Marc Tischkowitz, Angel Alonso Sanchez, James Bolton, David Church, Karen Donnelly, Richard J. Edmondson, D. Gareth Evans, Paula Gollop, Selina Goodman, Shirley Hodgson, Fiona Lalloo, Anne Lowry, Rhona J. McVey, Tracie Miles, Gabriela Moeslein, Pal Moller, Astrid Stormoken, Helen Stringfellow, Andrew Wallace, Luciya Whyte, Nafisa Wilkinson, Godfrey Wilson, Jo Wilson, Nick Wood
Publikováno v:
Crosbie, E J, Ryan, N A J, Arends, M, Bosse, T, Burn, J, Cornes, J M, Crawford, R A F, Eccles, D, Frayling, I M, Ghaem-Maghami, S, Hampel, H, Kauff, N, Kitchener, H C, Kitson, S J, Manchanda, R, McMahon, R F T, Monahan, K J, Menon, U, Moller, P, Moeslein, G, Rosenthal, A N, Sasieni, P, Seif, M W, Singh, N, Skarrott, P, Snowsill, T M, Steele, R J, Tischkowitz, M D & Evans, D G R 2019, ' The Manchester International Consensus Group Recommendations for the Management of Gynecological Cancers in Lynch Syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0489-y
2019, ' The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome ', Genetics in Medicine, vol. 21, no. 10, pp. 2390-2400 . https://doi.org/10.1038/s41436-019-0489-y
Genetics in Medicine, 21(10), 2390-2400
Crosbie, E, Ryan, N, Evans, D G, Edmondson, R & et al. 2019, ' The Manchester International Consensus Group Recommendations for the Management of Gynecological Cancers in Lynch Syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0489-y, https://doi.org/10.1038/s41436-019-0489-y
Genetics in Medicine
2019, ' The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome ', Genetics in Medicine, vol. 21, no. 10, pp. 2390-2400 . https://doi.org/10.1038/s41436-019-0489-y
Genetics in Medicine, 21(10), 2390-2400
Crosbie, E, Ryan, N, Evans, D G, Edmondson, R & et al. 2019, ' The Manchester International Consensus Group Recommendations for the Management of Gynecological Cancers in Lynch Syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0489-y, https://doi.org/10.1038/s41436-019-0489-y
Genetics in Medicine
Purpose\ud \ud There are no internationally agreed upon clinical guidelines as to which women with gynecological cancer would benefit from Lynch syndrome screening or how best to manage the risk of gynecological cancer in women with Lynch syndrome. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6c7e9487cd34eb3fce7e6806ba0cdc3
https://www.pure.ed.ac.uk/ws/files/80507445/The_Manchester_International_Consensus_Group_Recommendations_for_the_Management_of_Gynecological_Cancers_in_Lynch_Syndrome.pdf
https://www.pure.ed.ac.uk/ws/files/80507445/The_Manchester_International_Consensus_Group_Recommendations_for_the_Management_of_Gynecological_Cancers_in_Lynch_Syndrome.pdf
Autor:
Neil A.J. Ryan, Shahnaz Akbar
Publikováno v:
Fertility and Sterility. 99:1273-1276
Objective To describe and explore the current literature on the rare genetic condition of 46,XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20accceefad6a37e3f6d8b52c92a28b
https://doi.org/10.1016/j.fertnstert.2012.11.040
https://doi.org/10.1016/j.fertnstert.2012.11.040