Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study

Autor: Fewings, Eleanor, Larionov, Alexey, Redman, James, Goldgraben, Mae A, Scarth, James, Richardson, Susan, Brewer, Carole, Davidson, Rosemarie, Ellis, Ian, Evans, D Gareth, Halliday, Dorothy, Izatt, Louise, Marks, Peter, McConnell, Vivienne, Verbist, Louis, Mayes, Rebecca, Clark, Graeme R, Hadfield, James, Chin, Suet-Feung, Teixeira, Manuel R, Giger, Olivier T, Hardwick, Richard, di Pietro, Massimiliano, O'Donovan, Maria, Pharoah, Paul, Caldas, Carlos, Fitzgerald, Rebecca C, Tischkowitz, Marc

Publikováno v: In The Lancet Gastroenterology & Hepatology July 2018 3(7):489-498

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.

Autor: Winzeler, Bettina, Tufton, Nicola, S. Lim, Eugenie, Challis, Ben G., Park, Soo‐Mi, Izatt, Louise, Carroll, Paul V., Velusamy, Anand, Hulse, Tony, Whitelaw, Benjamin C., Martin, Ezequiel, Rodger, Fay, Maranian, Melanie, Clark, Graeme R., A. Akker, Scott, Maher, Eamonn R., Casey, Ruth T.

Publikováno v: Clinical Endocrinology; Oct2022, Vol. 97 Issue 4, p448-459, 12p

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Autor: Casey, Ruth T, Warren, Anne Y, Martin, Jose Ezequiel, Challis, Benjamin G, Rattenberry, Eleanor, Whitworth, James, Andrews, Katrina A, Roberts, Thomas, Clark, Graeme R, West, Hannah, Smith, Philip S, Docquier, France M, Rodger, Fay, Murray, Vicki, Simpson, Helen L, Wallis, Yvonne, Giger, Olivier, Tran, Maxine, Tomkins, Susan, Stewart, Grant D, Park, Soo-Mi, Woodward, Emma R, Maher, Eamonn R

Publikováno v: The Journal of Clinical Endocrinology and Metabolism

Context: The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afd1c86ae3c03000c74258891cd66329
https://www.repository.cam.ac.uk/handle/1810/267486

Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci

Autor: Reppe, Sjur, Wang, Yunpeng, Thompson, Wesley K., McEvoy, Linda K., Schork, Andrew J., Zuber, Verena, LeBlanc, Marissa, Bettella, Francesco, Mills, Ian G., Desikan, Rahul S., Djurovic, Srdjan, Gautvik, Kaare M., Dale, Anders M., Andreassen, Ole A., Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M.E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su Mei, Yerges-Armstrong, Laura M., Zheng, Hou Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville, Alen, Markku, Aragaki, Aaron K., Aspelund, Thor, Center, Jacqueline R., Dailiana, Zoe, Duggan, David J., Garcia, Melissa, Garcia-Giralt, Natàlia, Giroux, Sylvie, Hallmans, Göran, Hocking, Lynne J., Husted, Lise Bjerre, Jameson, Karen A., Khusainova, Rita, Kim, Ghi Su, Kooperberg, Charles, Koromila, Theodora, Kruk, Marcin, Laaksonen, Marika, Lacroix, Andrea Z., Lee, Seung Hun, Leung, Ping C., Lewis, Joshua R., Masi, Laura, Mencej-Bedrac, Simona, Nguyen, Tuan V., Nogues, Xavier, Patel, Millan S., Prezelj, Janez, Rose, Lynda M., Scollen, Serena, Siggeirsdottir, Kristin, Smith, Albert V., Svensson, Olle, Trompet, Stella, Trummer, Olivia, Van Schoor, Natasja M., Woo, Jean, Zhu, Kun, Balcells, Susana, Brandi, Maria Luisa, Buckley, Brendan M., Cheng, Sulin, Christiansen, Claus, Cooper, Cyrus, Dedoussis, George, Ford, Ian, Frost, Morten, Goltzman, David, González-Macías, Jesús, Kähönen, Mika, Karlsson, Magnus, Khusnutdinova, Elza, Koh, Jung Min, Kollia, Panagoula, Langdahl, Bente Lomholt, Leslie, William D., Lips, Paul, Ljunggren, Östen, Lorenc, Roman S., Marc, Janja, Mellström, Dan, Obermayer-Pietsch, Barbara, Olmos, José M., Pettersson-Kymmer, Ulrika, Reid, David M., Riancho, José A., Ridker, Paul M., Rousseau, François, Slagboom, P. Eline, Tang, Nelson L.S., Urreizti, Roser, Van Hul, Wim, Viikari, Jorma, Zarrabeitia, María T., Aulchenko, Yurii S., Castano-Betancourt, Martha, Grundberg, Elin, Herrera, Lizbeth, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Palsson, Stefan Th, Rotter, Jerome I., Sigurdsson, Gunnar, Van Meurs, Joyce B.J., Verlaan, Dominique, Williams, Frances M.K., Wood, Andrew R., Zhou, Yanhua, Pastinen, Tomi, Raychaudhuri, Soumya, Cauley, Jane A., Chasman, Daniel I., Clark, Graeme R., Cummings, Steven R., Danoy, Patrick, Dennison, Elaine M., Eastell, Richard, Eisman, John A., Gudnason, Vilmundur, Hofman, Albert, Jackson, Rebecca D., Jones, Graeme, Jukema, J. Wouter, Khaw, Kay Tee, Lehtimäki, Terho, Liu, Yongmei, Lorentzon, Mattias, McCloskey, Eugene, Mitchell, Braxton D., Nandakumar, Kannabiran, Nicholson, Geoffrey C., Oostra, Ben A., Peacock, Munro, Pols, Huibert A.P., Prince, Richard L., Raitakari, Olli, Reid, Ian R., Robbins, John, Sambrook, Philip N., Sham, Pak Chung, Shuldiner, Alan R., Tylavsky, Frances A., Van Duijn, Cornelia M., Wareham, Nick J., Cupples, L. Adrienne, Econs, Michael J., Evans, David M., Harris, Tamara B., Kung, Annie Wai Chee, Psaty, Bruce M., Reeve, Jonathan, Spector, Timothy D., Streeten, Elizabeth A., Zillikens, M. Carola, Thorsteinsdottir, Unnur, Ohlsson, Claes, Karasik, David, Richards, J. Brent, Brown, Matthew A., Stefansson, Kari, Uitterlinden, André G., Ralston, Stuart H., Ioannidis, John P.A., Kiel, Douglas P., Rivadeneira, Fernando

Publikováno v: PLoS ONE, 10(12):e0144531. Public Library of Science
Reppe, S, Wang, Y, Thompson, W K, McEvoy, L K, Schork, A J, Zuber, V, LeBlanc, M, Bettella, F, Mills, I G, Desikan, R S, Djurovic, S, Gautvik, K M, Dale, A M, Andreassen, O A, Estrada, K, Styrkarsdottir, U, Evangelou, E, Hsu, Y H, Duncan, E L, Ntzani, E E, Oei, L, Albagha, O M E, Amin, N, Kemp, J P, Koller, D L, Li, G, Liu, C T, Minster, R L, Moayyeri, A, Vandenput, L, Willner, D, Xiao, S M, Yerges-Armstrong, L M, Zheng, H F, Alonso, N, Eriksson, J, Kammerer, C M, Kaptoge, S K, Leo, P J, Thorleifsson, G, Wilson, S G, Wilson, J F, Aalto, V, Alen, M, Aragaki, A K, Aspelund, T, Center, J R, Dailiana, Z, Duggan, D J, Garcia, M, Garcia-Giralt, N, Giroux, S, Hallmans, G, Hocking, L J, Husted, L B, Jameson, K A, Khusainova, R, Kim, G S, Kooperberg, C, Koromila, T, Kruk, M, Laaksonen, M, Lacroix, A Z, Lee, S H, Leung, P C, Lewis, J R, Masi, L, Mencej-Bedrac, S, Nguyen, T V, Nogues, X, Patel, M S, Prezelj, J, Rose, L M, Scollen, S, Siggeirsdottir, K, Smith, A V, Svensson, O, Trompet, S, Trummer, O, Van Schoor, N M, Woo, J, Zhu, K, Balcells, S, Brandi, M L, Buckley, B M, Cheng, S, Christiansen, C, Cooper, C, Dedoussis, G, Ford, I, Frost, M, Goltzman, D, González-Macías, J, Kähönen, M, Karlsson, M, Khusnutdinova, E, Koh, J M, Kollia, P, Langdahl, B L, Leslie, W D, Lips, P, Ljunggren, Ö, Lorenc, R S, Marc, J, Mellström, D, Obermayer-Pietsch, B, Olmos, J M, Pettersson-Kymmer, U, Reid, D M, Riancho, J A, Ridker, P M, Rousseau, F, Slagboom, P E, Tang, N L S, Urreizti, R, Van Hul, W, Viikari, J, Zarrabeitia, M T, Aulchenko, Y S, Castano-Betancourt, M, Grundberg, E, Herrera, L, Ingvarsson, T, Johannsdottir, H, Kwan, T, Li, R, Luben, R, Medina-Gómez, C, Palsson, S T, Rotter, J I, Sigurdsson, G, Van Meurs, J B J, Verlaan, D, Williams, F M K, Wood, A R, Zhou, Y, Pastinen, T, Raychaudhuri, S, Cauley, J A, Chasman, D I, Clark, G R, Cummings, S R, Danoy, P, Dennison, E M, Eastell, R, Eisman, J A, Gudnason, V, Hofman, A, Jackson, R D, Jones, G, Jukema, J W, Khaw, K T, Lehtimäki, T, Liu, Y, Lorentzon, M, McCloskey, E, Mitchell, B D, Nandakumar, K, Nicholson, G C, Oostra, B A, Peacock, M, Pols, H A P, Prince, R L, Raitakari, O, Reid, I R, Robbins, J, Sambrook, P N, Sham, P C, Shuldiner, A R, Tylavsky, F A, Van Duijn, C M, Wareham, N J, Cupples, L A, Econs, M J, Evans, D M, Harris, T B, Kung, A W C, Psaty, B M, Reeve, J, Spector, T D, Streeten, E A, Zillikens, M C, Thorsteinsdottir, U, Ohlsson, C, Karasik, D, Richards, J B, Brown, M A, Stefansson, K, Uitterlinden, A G, Ralston, S H, Ioannidis, J P A, Kiel, D P, Rivadeneira, F & GEFOS Consortium 2015, ' Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci ', PLoS ONE, vol. 10, no. 12, e0144531 . https://doi.org/10.1371/journal.pone.0144531

Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the sugg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::37bdc47e2e6f90e7184385ce996bf2f2
https://research.vumc.nl/en/publications/9a1c8f12-213e-4008-955d-a626984b32ba