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Autor:
Zogopoulos G, Tomi Pastinen, Sivanandan K, Vaca F, Kinoshita T, Johannes B, Leguis E, Jansen-van der Weide M, Learn L, Godlewski D, Ed Saunders, Montserrat Rué, Vaisman A, de Bock G, Ángel Segura, Sabbaghian N, Mohammad Amin Kerachian, Pelletier S, Metcalfe K, Lilge L, Stockle E, Cheng S, Burger C, Woike A, Michelle Guy, Ragone A, Y. J. Bignon, Bronkhorst Y, Patricia N. Tonin, Lima M, Mieke Kriege, Karsan A, Zweemer R, Prady C, Beattie M, Panchal S, Kathleen Claes, van Zon P, Diane Provencher, Ummels A, Kang I, Shumak R, Arcusa Â, Yosr Hamdi, Alonso Mc, Dolman L, Houssami N, Olivier Delattre, Yannick Bidet, Claude Houdayer, Mercedes Durán, Ganschow P, Isabel Chirivella, Domingo S, Rebsamen M, Giustina Simone, Orland Diez, Chapman J, An tSaoir C, Jeanna McCuaig, Blayney J, Bosdet I, Treacy R, Esther Darder, Ando J, Luc Dehaspe, García-Casado Z, Duffy J, Harkin D, Z Kote-Jarai, Kasamatsu T, Ulf Kristoffersson, Membrez, Priston M, Noreau-Heisz D, Trivedi A, Begoña Graña, Ghadirian P, Ashuryk O, Consol López, Wenzel L, Vogel R, Joseph G, Poll A, Kennedy R, Patton S, Pérez C, Mónica Cornet, Panighetti A, Cassart P, Burke K, Mes-Masson A, Llacuachaqui M, Marc Tischkowitz, Wong N, Arcand S, Kotsopoulos J, Meschino W, Hall A, Marles S, Docking R, Haroun I, Marie Plante, Rachel Laframboise, Daniel Sinnett, Luce J, Sekiguchi I, Edenir Inêz Palmero, de Winter J, Christopher J. Lord, Hamel N, Pruski-Clark J, Lee D, Rusnak A, Carson N, Marta Santamariña, Knoppers B, Oakhill K, Bruce R. Rosen, Pierre O. Chappuis, Bruce Poppe, Stanislaw C, Catts Z, Brood M, van der Wall E, Yip C, Christine Walsh, Hoodfar E, Pressman A, Andrulis I, Alicia Barroso, D. Leongamornlert, Gillian Mitchell, Akira Hirasawa, Shen Z, Sameer Parpia, Horgan M, van Echtelt J, Chun K, Lubinski J, Rebecca Sutphen, Terespolsky D, Richard D, McDyer F, Floquet A, Lambo R, Bathurst L, Brown G, Kidd M, Nicolas Sevenet, Mourits M, Vencken P, Tatiana Popova, Garcia N, Armel S, van Amstel H, Valentini A, Ellen Warner, Hofland N, Hanna D, Kim J, Osann K, Enmore M, Loranger K, Sulivan I, J. Oliveira, Meijers H, Jansen R, Edmundo Carvalho Mauad, Kirkpatrick R, Danilo V Viana, Ian G. Campbell, Mil S, E J Sawyer, J. Balmaña, Samra Turajlic, Graham G, Alonso C, Inanc Birol, Sinclair F, van Tuil M, Pascual Bolufer, Micheli R, Andrew R. Green, Junyent N, Whittaker J, Monnerat C, Rhéaume J, Livingston D, Chan S, L. Ramadan, Lee R, Katarzyna Durda, De Leeneer K, Grados C, Côté C, Kyle B. Matchett, Robert Winqvist, Bonner D, Brunella Pilato, Mohd Taib N, Judy Garber, Kleiderman E, Murakami S, Sharifi N, Kimberley Hill, Desbiens C, Robert Royer, Jasperson K, Hsieh S, De Summa S, Dominique Stoppa-Lyonnet, de Lima J, Stuart McIntosh, Shakeri M, Wendy Kohlmann, Albert-Green A, de Hullu J, Pasick R, Avard D, Pathania S, van der Groep P, Laura Fachal, Bruno Zeitouni, Susan M. Domchek, Davey S, Richard Marais, Powell C, Hans J. J. P. Gille, Greenberg R, Kamata H, Cina, Gaarenstroom K, Lakhal Chaieb M, Kavanagh L, Gaelle Benais-Pont, Sun P, Jansen L, Matthew Parker, Barjhoux L, Russ H, Simon J. Furney, Willems A, Robb L, David E. Goldgar, Young S, Natalia Campacci, Mark G. Thomas, Doug Easton, Klugman S, Barrault M, Calvo N, Adriana C. Flora, Littell R, Narod S, Fragoso, N. Bosch, Finch A, Paul M. Wilkerson, Teo S, Tomasz Huzarski, Manuel Salto-Tellez, Moseley M, Davis S, Olga M. Sinilnikova, Iturbe A, Joan Brunet, Tierney M, Tsai E, Navarro de Souza A, Leclerc M, Lorenzo Manti, Gutiérrez-Enríquez S, Milewski B, Simon S. McDade, Kaplan C, Buckley N, Eva Esteban-Cardeñosa, Richter S, Shimizu C, Li J, Elena Castro, Iwanka Kozarewa, Harley I, Atocha Romero, Carlos E. Andrade, Carole Verny-Pierre, Barouk E, Vian D, Montserrat Baiget, Chan J, Sandra Bonache, Andrew Y Shuen, van der Merwe N, Kaklewski K, Mohar A, Tamura C, Heale E, Rooyadeh M, van Asperen C, Gemma Llort, Alan Mackay, Denroche R, Seelaus C, Zbuk K, McCluggage W, van der Luijt R, Maaike P.G. Vreeswijk, Edelweiss M, Crossan G, Arseneau J, Ambus I, Verheul H, Rodrigo Augusto Depieri Michelli, Juul T. Wijnen, Gross-Lester J, Britta Weigelt, Pedro Pérez-Segura, Richard A. Moore, Cornelissen C, Larouche G, McAlpine J, Daniel Nava Rodrigues, Trim L, Furnival J, Elser C, Muszyńka M, Adriana Lasa, Tuya Pal, Greuter. M, Ng K, Dorval M, Bresee C, Reimnitz G, Gaëtan MacGrogan, Perry Maxwell, Barnadas A, Hwang E, Powell B, Knapke S, Griskevicius. L, Alvarez R, Mester J, Anne-Bine Skytte, Eladio Velasco, Vidal S, Australie K, Leunen K, Ben-Yishay M, Van Houdt J, Phuah S, Amy E Taylor, Pinto R, Fonseca T, Champine M, Gammon A, Hollema H, Menko F, Feng B, David Olmos, Chong G, Tomasz Byrski, Patrick J. Morrison, Gregoire J, André Lopes Carvalho, Don B. Plewes, Rabeneck L, Carrol J, Alan Ashworth, Terlinge A, A Jakubowska, Odette Mariani, Setareh Moghadasi, Reitsma W, Rothenmund H, Herrera L, Anna Tenés, Angel Izquierdo, Asunción Torres, Stawicka M, Goh C, Hirst M, Drummond J, Osorio A, Ostrovsky R, Jeffrey N. Weitzel, Gareth W. Irwin, Fehniger J, Sugano K, Spriggs E, Dęniak T, Volenik A, Thorne H, Piccinin C, Amie Blanco, Jinno H, Robert A. Holt, Stephen B. Fox, Julia J. Gorski, Gilpin C, Herschorn S, Vega A, E. Page, Hamet P, McKenna D, Fabrice Bonnet, Yoshida T, Kienan I. Savage, Petzel S, Elizabeth Bancroft, Schneider S, Warwick L, Stewart S, William D. Foulkes, Colizza K, Bell K, Demsky R, Malgorzata Tymrakiewicz, Caldés T, Fons G, Bowen D, Côté S, Clouston D, Kitagawa Y, Gordon Glendon, Jenny Lester, Kinney A, Nelson E, Silke Hollants, Macrae L, Cajal T, Andrew J. Mungall, Ferrell B, Creighton B, Bressler L, Uy P, Makishima K, Haffaf Z, Ramūnas Janavičius, Einstein G, Zakalik D, Chiarelli A, Cantu D, Croce S, Kalloger S, Lin F, Ian O. Ellis, Benedito Mauro Rossi, R A Wilkinson, Mulligan J, Murphy J, Vadaparampil S, Smith E, Slangen B, Loiselle C, Iqbal J, Palma L, Cooper K, Jorge S. Reis-Filho, Chen. L, Quinten Waisfisz, Haneda E, Banks P, Vermeulen K, Visser B, Montalbán G, McCabe N, Honeyford J, Naseri S, Ng J, Ali A, Sandrine Viala, Mensa I, Kamarainen O, Guerra C, Mazzola E, David A. Schwartz, Marjanka K. Schmidt, Simon R, Fergus J. Couch, Margreet G. E. M. Ausems, Anne Vincent-Salomon, Olinski R, Zewald R, Moreno R, Semple J, McPherson J, Lamers E, Kharbanda A, Kessler L, Biemans D, Au A, Bordeleau L, Jean Feunteun, Mar Infante, Mullan P, Rudaitis, Molenda A, Rachael Natrajan, Pawar, Boman B, Kok T, Andrew A. Brown, Geller M, Monfared N, Bart J, Murata P, Crawford N, Butterfield Y, Bargalló J, Katherine L. Tucker, Cook-Wiens G, Rhodes A, Elodie Manié, Rubio E, Oram L, Shandiz F, Hayden R, Crawford B, Parmigiani G, Harkin P, Müller C, Grant M, Maryou B. Lambros, Thong M, Grzegorz Sukiennicki, Wouts J, Haddock P, Ramon y Cajal T, Kenneth C. Anderson, Michel Longy, Batiste W, Carroll J, Matte C, Hojyo T, Zhao Y, Caroline Seynaeve, Wai P, Simard J, Hurley K, Bolton D, Karlan B, Javier Benítez, Miriam Masas, Tołczko-Grabarek A, de Dueñas E, Geneviève Michils, Moncoutier, Nancy Uhrhammer, MacDonald D, Keyserlingk J, Osher D, Gilks C, Christopher T. Elliott, Scharf L, Gabram-Mendola S, Grondin K, Dohany L, van Diest P, Joris Vermeesch, Jan C. Oosterwijk, M’Baïlara K, DePuit M, Jacek Gronwald, Stefania Tommasi, de la Hoya M, Bouchard K, Black L, Lui M, Soucy P, Rosalind A. Eeles, Gert Matthijs, Graham T, Andrea Eisen, Bacha O, Alvaro N.A. Monteiro, Yoon S, Caron T, Smith D, Marc-Henri Stern, Hampson E, Kurz R, Gaasbeek W, Mundt E, Angela Velasco, Quinn J, Jocelyne Chiquette, Marquez T, Adam B. Murphy, Bakker J, Neus Gadea, Anita Grigoriadis, Aoki D, Dean S, Looi L, Paradiso A, Agostina Stradella, K. Govindasami, Lovell N, Eva Tomiak, Siesling S, Belanger M, Feilotter H, Knight J, Emmanuel Barillot, Huang M, Raquel Andrés, Kang P, Somerman C, Gackowski D, Rimel B, Nakamura S, McClellan K, Barrros E, Henriette Roed Nielsen, Rui Manuel Reis, Greening S, Ayme A, Carmen Guillen, de Vries E, Katarzyna Jaworska
Publikováno v:
Current Oncology
Background: Germline mutation screening of BRCA1 and BRCA2 genes is performed in suspected familial breast cancer cases, but a causative mutation is found in only 30% of patients. The development of additional methods to identify good candidates for
Autor:
van Asperen, C J, Brohet, R, Meijers-Heijboer, E, Hoogerbrugge, N, Verhoef, S, Vasen, H, Ausems, M, Menko, F, Gomez, G, Klijn, J, Hogervorst, F, van Houwelingen, J C, van't, V, Rookus, M, van Leeuwen, F E, on, b
Publikováno v:
Journal of Medical Genetics, 42, 711-9
van Asperen, C J, Brohet, R M, Meijers-Heijboer, H, Hoogerbrugge, N, Verhoef, S, Vasen, HF, Ausems, M G, Menko, F H, Gomez Garcia, E B, Klijn, JG, Hogervorst, FB & Houwelingen, J C 2005, ' Cancer risks in BRCA2 families: estimates for sites other than breast and ovary ', Journal of Medical Genetics, vol. 42, no. 9, pp. 711-719 . https://doi.org/10.1136/jmg.2004.028829
Journal of Medical Genetics, 42(9), 711-719. BMJ Publishing Group
Journal of medical genetics, 42(9), 711-719. BMJ Publishing Group
Journal of Medical Genetics, 42, 9, pp. 711-9
van Asperen, C J, Brohet, R M, Meijers-Heijboer, H, Hoogerbrugge, N, Verhoef, S, Vasen, HF, Ausems, M G, Menko, F H, Gomez Garcia, E B, Klijn, JG, Hogervorst, FB & Houwelingen, J C 2005, ' Cancer risks in BRCA2 families: estimates for sites other than breast and ovary ', Journal of Medical Genetics, vol. 42, no. 9, pp. 711-719 . https://doi.org/10.1136/jmg.2004.028829
Journal of Medical Genetics, 42(9), 711-719. BMJ Publishing Group
Journal of medical genetics, 42(9), 711-719. BMJ Publishing Group
Journal of Medical Genetics, 42, 9, pp. 711-9
Contains fulltext : 48352.pdf (Publisher’s version ) (Closed access) BACKGROUND: In BRCA2 mutation carriers, increased risks have been reported for several cancer sites besides breast and ovary. As most of the families included in earlier reports w
Autor:
Johannesma, P. C., van Moorselaar, R. J. A., Horenblas, S., van der Kolk, L. E., Thunnissen, E., van Waesberghe, J. H. T. M., Menko, F. H., Postmus, P. E.
Publikováno v:
Case Reports in Medicine.
Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilatera
Autor:
Luijten, M. N. H., Basten, S. G., Claessens, T., Vernooij, M., Scott, C. L., Janssen, R., Easton, J. A., Kamps, M. A. F., Vreeburg, M., Broers, J. L. V., van Geel, M., Menko, F. H., Harbottle, R. P., Nookala, R. K., Tee, A. R., Land, S. C., Giles, R. H., Coull, B. J., van Steensel, M. A. M.
Publikováno v:
Human Molecular Genetics, 22(21), 4383-4397. Oxford University Press
Luijten, M N H, Basten, S G, Claessens, T, Vernooij, M, Scott, C L, Janssen, R, Easton, J A, Kamps, M A F, Vreeburg, M, Broers, J L V, Van Geel, M, Menko, F H, Harbottle, R P, Nookala, R K, Tee, A R, Land, S C, Giles, R H, Coull, B J & van Steensel, M A M 2013, ' Birt-Hogg-Dube syndrome is a novel ciliopathy ', Human Molecular Genetics, vol. 22, no. 21, pp. 4383-4397 . https://doi.org/10.1093/hmg/ddt288
Human Molecular Genetics; Vol 22
Luijten, M N H, Basten, S G, Claessens, T, Vernooij, M, Scott, C L, Janssen, R, Easton, J A, Kamps, M A F, Vreeburg, M, Broers, J L V, Van Geel, M, Menko, F H, Harbottle, R P, Nookala, R K, Tee, A R, Land, S C, Giles, R H, Coull, B J & van Steensel, M A M 2013, ' Birt-Hogg-Dube syndrome is a novel ciliopathy ', Human Molecular Genetics, vol. 22, no. 21, pp. 4383-4397 . https://doi.org/10.1093/hmg/ddt288
Human Molecular Genetics; Vol 22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4cab7ab7a3e19ff3170ef50fe45f1102
https://research.vumc.nl/en/publications/b03b0237-a0e9-4ce7-9bd9-be661f75621f
https://research.vumc.nl/en/publications/b03b0237-a0e9-4ce7-9bd9-be661f75621f
Akademický článek
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Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Starink, Th M., Van Doorn, M. B.A., Jaspars, E. H., Houweling, A. C., Waisfisz, Q., Menko, F. H.
Publikováno v:
Starink, T M, Van Doorn, M B A, Jaspars, E H, Houweling, A C, Waisfisz, Q & Menko, F H 2010, ' Familiaire multipele discoïde fibromen : Een dubbelganger van het Birt-Hogg-Dubé syndroom, niet gekoppeld aan het FLCN-locus ', Nederlands Tijdschrift voor Dermatologie en Venereologie, vol. 20, no. 8, pp. 499-500 .
Nederlands Tijdschrift voor Dermatologie en Venereologie, 20(8), 499-500. DCHG Partners in Mediscne Communicatie
Nederlands Tijdschrift voor Dermatologie en Venereologie, 20(8), 499-500. DCHG Partners in Mediscne Communicatie
Previously, we proposed that familial multiple trichodiscomas is distinct from Birt-Hogg-Dubé syndrome (BHD). We now studied the cutaneous findings in eight additional families and renamed the condition familial multiple discoid fibroma (FMDF) to em
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::723d6eeeac079642cb7ef14445eb07c8
https://research.vumc.nl/en/publications/c2db2da5-a714-4e7a-a00b-0103ca78778d
https://research.vumc.nl/en/publications/c2db2da5-a714-4e7a-a00b-0103ca78778d
Publikováno v:
Virchows Archiv, 455, 101-101. SPRINGER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::51e16608af69c045a5054da051be660a
https://research.rug.nl/en/publications/e4072f0b-f8fd-435a-bfdf-d09913f659cd
https://research.rug.nl/en/publications/e4072f0b-f8fd-435a-bfdf-d09913f659cd