Zobrazeno 1 - 10
of 256
pro vyhledávání: '"D. G. R. Evans"'
Autor:
H. Boztug, Uwe Kordes, Christian P. Kratz, Kornelius Kerl, Franck Bourdeaut, K. Jahnukainen, V. Ridola, M. Jorgensen, Iris Kventsel, K. Katsibardi, Karolina Nemes, R. Farah, E. Stutz, M. C. A. Cornips, K. W. Pajtler, Michael C. Frühwald, S. Glentis, D. G. R. Evans, Steffen Hirsch
Publikováno v:
Familial Cancer
Frühwald, M C, Nemes, K, Boztug, H, Cornips, M C A, Evans, D G, Farah, R, Glentis, S, Jorgensen, M, Katsibardi, K, Hirsch, S, Jahnukainen, K, Kventsel, I, Kerl, K, Kratz, C P, Pajtler, K W, Kordes, U, Ridola, V, Stutz, E & Bourdeaut, F 2021, ' Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group ', Familial Cancer, vol. 20, pp. 305-316 . https://doi.org/10.1007/s10689-021-00229-1
Frühwald, M C, Nemes, K, Boztug, H, Cornips, M C A, Evans, D G, Farah, R, Glentis, S, Jorgensen, M, Katsibardi, K, Hirsch, S, Jahnukainen, K, Kventsel, I, Kerl, K, Kratz, C P, Pajtler, K W, Kordes, U, Ridola, V, Stutz, E & Bourdeaut, F 2021, ' Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group ', Familial Cancer, vol. 20, pp. 305-316 . https://doi.org/10.1007/s10689-021-00229-1
The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver an
Autor:
D. G. R. Evans, Miriam J. Smith, Nicoletta Bobola, Claire O'Leary, Andrew T. King, Daniel M Fountain, Federico Roncaroli, Omar N. Pathmanaban
Publikováno v:
Oncogene
Meningiomas are the most common primary brain tumor and their incidence and prevalence is increasing. This review summarizes current evidence regarding the embryogenesis of the human meninges in the context of meningioma pathogenesis and anatomical d
Autor:
Claire O'Leary, Carmine Antonio Donofrio, Cathal John Hannan, Simon K L Lloyd, Daniel Lewis, David Brough, Emma Stapleton, David Coope, Stuart M. Allan, Charlotte Hammerbeck-Ward, Andrew T. King, Simon R. Freeman, D. G. R. Evans, Scott A. Rutherford, Omar N. Pathmanaban
Publikováno v:
J Neurol Surg B Skull Base
Hannan, C J, Lewis, D, O'Leary, C, Donofrio, C A, Evans, D G, Stapleton, E, Freeman, S R, Lloyd, S K, Rutherford, S A, Hammerbeck-Ward, C, Brough, D, Allan, S M, Coope, D, King, A T & Pathmanaban, O N 2022, ' Beyond Antoni: A Surgeon's Guide to the Vestibular Schwannoma Microenvironment ', Journal of neurological surgery. Part B, Skull base, vol. 83, no. 1, pp. 1-10 . https://doi.org/10.1055/s-0040-1716688, https://doi.org/10.1055/s-0040-1716688
Hannan, C J, Lewis, D, O'Leary, C, Donofrio, C A, Evans, D G, Stapleton, E, Freeman, S R, Lloyd, S K, Rutherford, S A, Hammerbeck-Ward, C, Brough, D, Allan, S M, Coope, D, King, A T & Pathmanaban, O N 2022, ' Beyond Antoni: A Surgeon's Guide to the Vestibular Schwannoma Microenvironment ', Journal of neurological surgery. Part B, Skull base, vol. 83, no. 1, pp. 1-10 . https://doi.org/10.1055/s-0040-1716688, https://doi.org/10.1055/s-0040-1716688
Introduction Vestibular schwannomas (VS) are histologically benign tumors arising from cranial nerve VIII. Far from a homogenous proliferation of Schwann cells, mounting evidence has highlighted the complex nature of the inflammatory microenvironment
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
Background A vestibular schwannoma (VS) is a relatively rare, benign tumour of the eighth cranial nerve, often involving alterations to the gene NF2. Previous mathematical models of schwannoma incidence have not attempted to account for alterations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d526349b1b87f56e04e8d22549da7d1a
https://doi.org/10.1101/2021.10.03.457528
https://doi.org/10.1101/2021.10.03.457528
Autor:
Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf
Autor:
Guy Rosner, Walter Hernán Pavicic, Claudia Perne, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira, Wouter H. de Vos tot Nederveen Cappel, Stefan Aretz, Einar Andreas Rødland, Polly A. Newcomb, Karin Alvarez, Ariadna Sánchez, Lone Sunde, Wolff Schmiegel, Joan Brunet, Marc S. Greenblatt, Christina Therkildsen, Karl Heinimann, Lior H. Katz, Fiona Lalloo, Jürgen Weitz, Anna Lepistö, Rolf H. Sijmons, Maartje Nielsen, Hans F. A. Vasen, Deepak Vangala, Monika Morak, Jukka-Pekka Mecklin, Toni T. Seppälä, Sigve Nakken, Stefanie Holzapfel, Douglas Tjandra, Finlay A. Macrae, Päivi Peltomäki, Daniel D. Buchanan, Stephen N. Thibodeau, Adriana Della Valle, James Hill, Annika Lindblom, Bernardo Bonanni, Reinhard Büttner, Francisco López-Köstner, Giulia Martina Cavestro, John Burn, Emma J Crosbie, Lucio Bertario, Sanne W. ten Broeke, D. G. R. Evans, Kate Green, Verena Steinke-Lange, Eivind Hovig, Miquel Serra-Burriel, Francesc Balaguer, Kirsi Pylvänäinen, Gabriela Möslein, Revital Kariv, Thomas Hansen, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Nils Rahner, Magnus von Knebel Doeberitz, Ingrid Winship, Nathan Gluck, Lars Joachim Lindberg, Christoph Engel, Mev Dominguez-Valentin, John-Paul Plazzer, Julian R. Sampson, Marta Pineda, John L. Hopper, Pablo Kalfayan, Heike Görgens, Aung Ko Win, Steven Gallinger, Loic Le Marchand, Mark A. Jenkins, Markus Loeffler, Noralane M. Lindor, Inge Bernstein, Pål Møller, Laura Renkonen-Sinisalo, Florencia Neffa, Huw Thomas, Gabriel Capellá, Jane C. Figueiredo, Miriam Mints, Patricia Esperon, Matilde Navarro, Robert Hüneburg
Publikováno v:
Journal of Clinical Medicine, 10(13):2856. MDPI AG
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPI
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPI
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, pros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a724a577132e178f2435d01b2921fa
https://research.rug.nl/en/publications/f2566b72-3f15-4434-8fa2-7b01e2ee1c88
https://research.rug.nl/en/publications/f2566b72-3f15-4434-8fa2-7b01e2ee1c88
Autor:
David P. French, Michelle Harvie, Grace C. Cooper, Louise S Donnelly, D. G. R. Evans, Mary Pegington, Sarah McDiarmid, C Lombardelli, Katharine Sellers, Christopher J. Armitage, Anthony Howell, Barrett E, Helen Ruane
Excess weight and unhealthy behaviours (sedentariness, high alcohol and suboptimal diet) are common among women attending breast screening. These factors increase the risk of breast cancer and other diseases. We tested the feasibility and acceptabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c8893e2992d28116f054b8a5466f289
https://doi.org/10.21203/rs.3.rs-129135/v1
https://doi.org/10.21203/rs.3.rs-129135/v1
Autor:
Cliona C. Kirwan, J. Wisely, Ashu Gandhi, Fiona Lalloo, P. Duxbury, Anthony Howell, John Murphy, D. G. R. Evans, Thomas E. Clancy, Philip Foden
Publikováno v:
Journal of plastic, reconstructiveaesthetic surgery : JPRAS. 75(1)
Summary Background Many women with increased lifetime risk of developing breast cancer, due to pathogenic gene variants or family history, choose to undergo bilateral risk reducing mastectomies (BRRM). Patient reported outcome measures (PROMS) are an
Publikováno v:
Ryan, N, Nobes, M, Sedgewick, D, Teoh, S-N, Evans, D G & Crosbie, E 2020, ' A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome ', BJOG: An International Journal of Obstetrics and Gynaecology . https://doi.org/10.1111/1471-0528.16432
Objective To describe the current testing practice, referral pathways and gynaecological services available to women with Lynch syndrome (LS) in the UK. Design Cross-sectional nationwide survey of gynaecological oncologists and women with LS. Setting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68a758bdf09b7c22de1786bfb30412a
https://research.manchester.ac.uk/en/publications/c57d4446-8694-428c-8be9-69385b5679fc
https://research.manchester.ac.uk/en/publications/c57d4446-8694-428c-8be9-69385b5679fc