Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Brady AF"'
Autor:
Reisel, D, Burnell, M, Side, L, Loggenberg, K, Gessler, S, Desai, R, Sanderson, S, Brady, AF, Dorkins, H, Wallis, Y, Jacobs, C, Legood, R, Beller, U, Tomlinson, I, Wardle, J, Menon, U, Jacobs, I, Manchanda, R
ObjectiveTo evaluate the association of Jewish cultural and religious identity and denominational affiliation with interest in, intention to undertake and uptake of population-based BRCA (Breast Cancer Gene)-testing.DesignCohort-study set within recr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::013a555b6fe0562d0aaf13250a314326
https://hdl.handle.net/10453/152636
https://hdl.handle.net/10453/152636
Autor:
Reisel, D, Burnell, M, Side, L, Loggenberg, K, Gessler, S, Desai, R, Sanderson, S, Brady, AF, Dorkins, H, Wallis, Y, Jacobs, C, Legood, R, Beller, U, Tomlinson, I, Wardle, J, Menon, U, Jacobs, I, Manchanda, R
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; May2022, Vol. 129 Issue 6, p959-968, 10p
Autor:
Manchanda, R, Burnell, M, Gaba, F, Desai, R, Wardle, J, Gessler, S, Side, L, Sanderson, S, Loggenberg, K, Brady, AF, Dorkins, H, Wallis, Y, Chapman, C, Jacobs, C, Legood, R, Beller, U, Tomlinson, I, Menon, U, Jacobs, I
© 2019 Royal College of Obstetricians and Gynaecologists Objective: Unselected population-based BRCA testing provides the opportunity to apply genomics on a population-scale to maximise primary prevention for breast-and-ovarian cancer. We compare lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29650cfe59c899bdca116b235d2d9db6
https://hdl.handle.net/10453/137121
https://hdl.handle.net/10453/137121
Autor:
Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, SV, Pujol, R, Kiiski, JI, Muranen, TA, Barnes, DR, Dennis, J, Michailidou, K, Bolla, MK, Leslie, G, Aalfs, CM, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, CS, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Adank, MA, Adlard, J, Agata, S, Cadoo, K, Agnarsson, BA, Ahearn, T, Aittomäki, K, Ambrosone, CB, Andrews, L, Anton-Culver, H, Antonenkova, NN, Arndt, V, Arnold, N, Aronson, KJ, Arun, BK, Asseryanis, E, Auber, B, Auvinen, P, Azzollini, J, Balmaña, J, Barkardottir, RB, Barrowdale, D, Barwell, J, Beane Freeman, LE, Beauparlant, CJ, Beckmann, MW, Behrens, S, Benitez, J, Berger, R, Bermisheva, M, Blanco, AM, Blomqvist, C, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bonanni, B, Borg, A, Brady, AF, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Buys, SS, Caldés, T, Caliebe, A, Caligo, MA, Campa, D, Campbell, IG, Canzian, F, Castelao, JE, Chang-Claude, J, Chanock, SJ, Claes, KBM, Clarke, CL, Collavoli, A, Conner, TA, Cox, DG, Cybulski, C, Czene, K, Daly, MB, de la Hoya, M, Devilee, P, Diez, O, Ding, YC, Dite, GS, Ditsch, N, Domchek, SM, Dorfling, CM, dos-Santos-Silva, I, Durda, K
© 2019, The Author(s). Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::1eca2560382e9f722375dae0ae46daba
https://hdl.handle.net/10453/137862
https://hdl.handle.net/10453/137862
Autor:
Twigg, SRF, Wilkie, AOM, Hufnagel, RB, Miller, KA, Zhou, Y, McGowan, SJ, Taylor, J, Craft, J, Taylor, JC, Santoro, SL, Huang, T, Hopkin, RJ, Brady, AF, Clayton-Smith, J, Clericuzio, CL, Grange, DK, Groesser, L, Hafner, C, Horn, D, Temple, IK, Dobyns, WB, Curry, CJ, Jones, MC
Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or ham
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::398df20c096adb044cf30378bd57dea9
https://doi.org/10.1016/j.ajhg.2016.04.007
https://doi.org/10.1016/j.ajhg.2016.04.007
Autor:
Manchanda, R, Burnell, M, Gaba, F, Sanderson, S, Loggenberg, K, Gessler, S, Wardle, J, Side, L, Desai, R, Brady, AF, Dorkins, H, Wallis, Y, Chapman, C, Jacobs, C, Tomlinson, I, Beller, U, Menon, U, Jacobs, I, Brady, A F
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; May2019, Vol. 126 Issue 6, p784-794, 11p, 5 Charts
Autor:
Vaurs Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats Viñas JM, Dan B, Brady AF, Boespflug Tanguy O, Touraine R., DE MICHELE, GIUSEPPE
Pelizaeus-Merzbacher Disease is an X-linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53 families affected by hypomyelinating leukodystrophies of unknown aetiology. The 12 MCT8 mutated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::4da7ab2fcee819c740f05e7c95c0ab13
http://hdl.handle.net/11588/347717
http://hdl.handle.net/11588/347717
Autor:
Bancroft, EK, Page, EC, Castro, E, Lilja, H, Vickers, A, Sjoberg, D, Assel, M, Foster, CS, Mitchell, G, Drew, K, Maehle, L, Axcrona, K, Evans, DG, Bulman, B, Eccles, D, McBride, D, van Asperen, C, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Selkirk, C, Hulick, PJ, Bojesen, A, Skytte, AB, Lam, J, Taylor, L, Oldenburg, R, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Blanco, I, Salinas, M, Cook, J, Rosario, DJ, Buys, S, Conner, T, Ausems, MG, Ong, KR, Hoffman, J, Domchek, S, Powers, J, Teixeira, MR, Maia, S, Foulkes, WD, Taherian, N, Ruijs, M, Helderman-van den Enden, AT, Izatt, L, Davidson, R, Adank, MA, Walker, L, Schmutzler, R, Tucker, K, Kirk, J, Hodgson, S, Harris, M, Douglas, F, Lindeman, GJ, Zgajnar, J, Tischkowitz, M, Clowes, VE, Susman, R, Cajal, TRY, Patcher, N, Gadea, N, Spigelman, A, van Os, T, Liljegren, A, Side, L, Brewer, C, Brady, AF, Donaldson, A, Stefansdottir, V, Friedman, E, Chen-Shtoyerman, R, Amor, DJ, Copakova, L, Barwell, J, Giri, VN, Murthy, V, Nicolai, N, Teo, SH, Greenhalgh, L, Strom, S, Henderson, A, McGrath, J, Gallagher, D, Aaronson, N, Ardern-Jones, A, Bangma, C, Dearnaley, D, Costello, P, Eyfjord, J, Rothwell, J, Falconer, A, Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Kote-Jarai, Z, Lubinski, J, Axcrona, U, Melia, J, McKinley, J, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Wilson, P, Killick, E, Moss, S, Eeles, RA, Taylor, N, Pope, J, Saya, S, Martin, S, Keating, D, Petelin, L, Murphy, M, Doherty, R, Pratt, S, Murphy, D, Cleeve, L, Miller, C, Stapleton, A, Chong, M, Suthers, G, Andrews, L, Duffy, J, Millard, R, Ward, R, Williams, R, Stricker, P, Bowman, M, Patel, M, O'Connell, S, Hunt, C, Smyth, C, Frydenberg, M, Shackleton, K, McGaughran, J, Boon, M, Pachter, N, Townshend, S, Schofield, L, Gleeson, M, Scott, R, Burke, J, Patterson, B, Bacic, S, Swindle, P, Aprikian, A, Bojeson, A, Cruger, D, Osther, P, Gerdes, AM, Rhiem, K, Luedtke-Heckenkamp, K, Ochsendorf, N, Fiddike, K, Sarin, R, Awatagiri, K, Ghonge, S, Kowtal, P, Mulgund, G, Bambury, R, Farrell, M, Gallagher, F, Ben-Yehoshua, SJ, Nissani, R, Appelman, Z, Moriel, E, Radice, P, Valdagni, R, Magnani, T, Meng, TH, Yoon, SY, Thong, MK, Kiemeney, B, Van der Luijt, RB, Moller, P, Brennhovd, B, Medvik, H, Hanslien, E, Peixoto, A, Henrique, R, Oliveira, J, Goncalves, N, Araujo, L, Seixas, M, Joao, PS, Nogueira, P, Krajc, M, Vrecar, A, Capella, G, Fisas, D, Balmana, J, Morote, J, Hjalm-Eriksson, M, Ekdahl, KJ, Carlsson, S, Hanson, H, Shanley, S, Goh, C, Wiggins, J, Kohut, K, Van As, N, Thompson, A, Ogden, C, Borley, N, Woodhouse, C, Kumar, P, Mercer, C, Paterson, J, Taylor, A, Newcombe, B, Halliday, D, Stayner, B, Fleming-Brown, D, Brice, G, Homfray, T, Hammond, C, Potter, A, Renton, C, Searle, A, Hill, K, Goodman, S, Garcia, L, Devlin, G, Everest, S, Nadolski, M, Jobson, I, Paez, E, Tomkins, S, Pichert, G, Jacobs, C, Langman, C, Weston, M, Dorkins, H, Melville, A, Kosicka-Slawinska, M, Cummings, C, Kiesel, V, Bartlett, M, Randhawa, K, Ellery, N, Male, A, Simon, K, Rees, K, Compton, C, Tidey, L, Nevitt, L, Ingram, S, Catto, J, Howson, J, Chapman, C, Cole, T, Heaton, T, Burgess, L, Longmuir, M, Watt, C, Duncan, A, Kockelbergh, R, Sattar, A, Kaemba, B, Sidat, Z, Patel, N, Siguake, K, Birt, A, Poultney, U, Umez-Eronini, N, Mom, J, Roberts, G, Woodward, A, Sutton, V, Cornford, P, Treherne, K, Griffiths, J, Cogley, L, Rubinstein, W, Brendler, C, Helfand, B, McGuire, M, Kaul, K, Shevrin, D, Weissman, S, Newlin, A, Vogel, K, Weiss, S, Goldgar, D, Venne, V, Stephenson, R, Dechet, C, Arun, B, Davis, JW, Yamamura, Y, Gross, L
Publikováno v:
EUROPEAN UROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Background: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c5a815b40531304e841ccbdc7624fba7
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9155
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9155
Autor:
Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, AM, Bengani, H, Chan, CY, Kayserili, H, Avci, S, Hennekam, RC, Lampe, AK, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, MJ, Cook, JA, Splitt, M, Fisher, RB, Fryer, A, Magee, AC, Wilkie, A, Barnicoat, A, Brady, AF, Cooper, NS, Mercer, C, Deshpande, C, Bennett, CP, Pilz, DT, Ruddy, D, Cilliers, D, Johnson, DS, Josifova, D, Rosser, E, Thompson, EM, Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, KM, Cox, H, Firth, HV, Kingston, H, Wee, JS, Hurst, JA, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M, McEntagart, M, Davidson, R, Lynch, SA, Sisodiya, S, Mehta, SG, McKee, SA, Mohammed, S, Holden, S, Park, SM, Holder, SE, Harrison, V, McConnell, V, Lam, WK, Green, AJ, Donnai, D, Bitner-Glindzicz, M, Donnelly, DE, Nellåker, C, Taylor, MS, FitzPatrick, DR
Publikováno v:
Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A M, Bengani, H, Chan, C Y, Kayserili, H, Avci, Ş, Hennekam, R C M, Lampe, A K, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M J, Cook, J A, Splitt, M, Fisher, R B, Fryer, A, Magee, A C, Wilkie, A, Barnicoat, A, Brady, A F, Cooper, N S, Mercer, C, Deshpande, C, Bennett, C P, Pilz, D T, Ruddy, D, Cilliers, D, Johnson, D S, Josifova, D, Rosser, E, Thompson, E M, Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, K M, Cox, H, Firth, H V, Kingston, H, Wee, J S, Hurst, J A, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M, McEntagart, M, Davidson, R, Lynch, S-A, Sisodiya, S, Mehta, S G, McKee, S A, Mohammed, S, Holden, S, Park, S-M, Holder, S E, Harrison, V, McConnell, V, Lam, W K, Green, A J, Donnai, D, Bitner-Glindzicz, M, Donnelly, D E, Nellåker, C, Taylor, M S & FitzPatrick, D R 2014, ' Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism ', Journal of Medical Genetics, vol. 51, no. 10, pp. 659-668 . https://doi.org/10.1136/jmedgenet-2014-102573
Journal of medical genetics, 51(10), 659-668. BMJ Publishing Group
Journal of Medical Genetics
Journal of medical genetics, 51(10), 659-668. BMJ Publishing Group
Journal of Medical Genetics
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-functio
Autor:
Sharma, VP, Fenwick, AL, Brockop, MS, McGowan, SJ, Goos, JAC, Hoogeboom, AJM, Brady, AF, Jeelani, O, Lynch, SA, Mulliken, JB, Murray, DJ, Phipps, JM, Sweeney, E, Tomkins, SE, Wilson, LC, Bennett, S, Cornall, RJ, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, PJ, Mathijssen, IMJ, Maxson, RE, Twigg, SRF, Wilkie, AOM
Publikováno v:
LANCET. 381