ceRNA in cancer: possible functions and clinical implications
Qi, Xiaolong, Zhang, Da-Hong, Wu, Nan, Xiao, Jun-Hua, Wang, Xiang, Ma, Wang
Published in Journal of Medical Genetics (01.10.2015)
Published in Journal of Medical Genetics (01.10.2015)
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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Hughes, Derralynn A, Nicholls, Kathleen, Shankar, Suma P, Sunder-Plassmann, Gere, Koeller, David, Nedd, Khan, Vockley, Gerard, Hamazaki, Takashi, Lachmann, Robin, Ohashi, Toya, Olivotto, Iacopo, Sakai, Norio, Deegan, Patrick, Dimmock, David, Eyskens, François, Germain, Dominique P, Goker-Alpan, Ozlem, Hachulla, Eric, Jovanovic, Ana, Lourenco, Charles M, Narita, Ichiei, Thomas, Mark, Wilcox, William R, Bichet, Daniel G, Schiffmann, Raphael, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Johnson, Franklin, Boudes, Pol, Benjamin, Elfrida R, Lockhart, David J, Barlow, Carrolee, Skuban, Nina, Castelli, Jeffrey P, Barth, Jay, Feldt-Rasmussen, Ulla
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
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Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
van der Post, Rachel S, Vogelaar, Ingrid P, Carneiro, Fátima, Guilford, Parry, Huntsman, David, Hoogerbrugge, Nicoline, Caldas, Carlos, Schreiber, Karen E Chelcun, Hardwick, Richard H, Ausems, Margreet G E M, Bardram, Linda, Benusiglio, Patrick R, Bisseling, Tanya M, Blair, Vanessa, Bleiker, Eveline, Boussioutas, Alex, Cats, Annemieke, Coit, Daniel, DeGregorio, Lynn, Figueiredo, Joana, Ford, James M, Heijkoop, Esther, Hermens, Rosella, Humar, Bostjan, Kaurah, Pardeep, Keller, Gisella, Lai, Jennifer, Ligtenberg, Marjolijn J L, O'Donovan, Maria, Oliveira, Carla, Pinheiro, Hugo, Ragunath, Krish, Rasenberg, Esther, Richardson, Susan, Roviello, Franco, Schackert, Hans, Seruca, Raquel, Taylor, Amy, ter Huurne, Anouk, Tischkowitz, Marc, Joe, Sheena Tjon A, van Dijck, Benjamin, van Grieken, Nicole C T, van Hillegersberg, Richard, van Sandick, Johanna W, Vehof, Rianne, van Krieken, J Han, Fitzgerald, Rebecca C
Published in Journal of Medical Genetics (01.06.2015)
Published in Journal of Medical Genetics (01.06.2015)
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Kabuki syndrome: international consensus diagnostic criteria
Adam, Margaret P, Banka, Siddharth, Bjornsson, Hans T, Bodamer, Olaf, Chudley, Albert E, Harris, Jaqueline, Kawame, Hiroshi, Lanpher, Brendan C, Lindsley, Andrew W, Merla, Giuseppe, Miyake, Noriko, Okamoto, Nobuhiko, Stumpel, Constanze T, Niikawa, Norio
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R
Published in Journal of medical genetics (01.06.2018)
Published in Journal of medical genetics (01.06.2018)
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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Bogaert, Delfien J A, Dullaers, Melissa, Lambrecht, Bart N, Vermaelen, Karim Y, De Baere, Elfride, Haerynck, Filomeen
Published in Journal of Medical Genetics (01.09.2016)
Published in Journal of Medical Genetics (01.09.2016)
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Platzer, Konrad, Yuan, Hongjie, Schütz, Hannah, Winschel, Alexander, Chen, Wenjuan, Hu, Chun, Kusumoto, Hirofumi, Heyne, Henrike O, Helbig, Katherine L, Tang, Sha, Willing, Marcia C, Tinkle, Brad T, Adams, Darius J, Depienne, Christel, Keren, Boris, Mignot, Cyril, Frengen, Eirik, Strømme, Petter, Biskup, Saskia, Döcker, Dennis, Strom, Tim M, Mefford, Heather C, Myers, Candace T, Muir, Alison M, LaCroix, Amy, Sadleir, Lynette, Scheffer, Ingrid E, Brilstra, Eva, van Haelst, Mieke M, van der Smagt, Jasper J, Bok, Levinus A, Møller, Rikke S, Jensen, Uffe B, Millichap, John J, Berg, Anne T, Goldberg, Ethan M, De Bie, Isabelle, Fox, Stephanie, Major, Philippe, Jones, Julie R, Zackai, Elaine H, Abou Jamra, Rami, Rolfs, Arndt, Leventer, Richard J, Lawson, John A, Roscioli, Tony, Jansen, Floor E, Ranza, Emmanuelle, Korff, Christian M, Lehesjoki, Anna-Elina, Courage, Carolina, Linnankivi, Tarja, Smith, Douglas R, Stanley, Christine, Mintz, Mark, McKnight, Dianalee, Decker, Amy, Tan, Wen-Hann, Tarnopolsky, Mark A, Brady, Lauren I, Wolff, Markus, Dondit, Lutz, Pedro, Helio F, Parisotto, Sarah E, Jones, Kelly L, Patel, Anup D, Franz, David N, Vanzo, Rena, Marco, Elysa, Ranells, Judith D, Di Donato, Nataliya, Dobyns, William B, Laube, Bodo, Traynelis, Stephen F, Lemke, Johannes R
Published in Journal of medical genetics (01.07.2017)
Published in Journal of medical genetics (01.07.2017)
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Circular RNAs: a new frontier in the study of human diseases
Chen, Yonghua, Li, Cheng, Tan, Chunlu, Liu, Xubao
Published in Journal of Medical Genetics (01.06.2016)
Published in Journal of Medical Genetics (01.06.2016)
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The importance of genetic diagnosis for Duchenne muscular dystrophy
Aartsma-Rus, Annemieke, Ginjaar, Ieke B, Bushby, Kate
Published in Journal of Medical Genetics (01.03.2016)
Published in Journal of Medical Genetics (01.03.2016)
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Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Aronson, Melyssa, Colas, Chrystelle, Shuen, Andrew, Hampel, Heather, Foulkes, William D, Baris Feldman, Hagit, Goldberg, Yael, Muleris, Martine, Wolfe Schneider, Kami, McGee, Rose B, Jasperson, Kory, Rangaswami, Arun, Brugieres, Laurence, Tabori, Uri
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Wimmer, Katharina, Kratz, Christian P, Vasen, Hans F A, Caron, Olivier, Colas, Chrystelle, Entz-Werle, Natacha, Gerdes, Anne-Marie, Goldberg, Yael, Ilencikova, Denisa, Muleris, Martine, Duval, Alex, Lavoine, Noémie, Ruiz-Ponte, Clara, Slavc, Irene, Burkhardt, Brigit, Brugieres, Laurence
Published in Journal of Medical Genetics (01.06.2014)
Published in Journal of Medical Genetics (01.06.2014)
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Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
Deng, Jianwen, Gu, Muliang, Miao, Yu, Yao, Sheng, Zhu, Min, Fang, Pu, Yu, Xuefan, Li, Pidong, Su, Yanan, Huang, Jian, Zhang, Jun, Yu, Jiaxi, Li, Fan, Bai, Jing, Sun, Wei, Huang, Yining, Yuan, Yun, Hong, Daojun, Wang, Zhaoxia
Published in Journal of medical genetics (01.11.2019)
Published in Journal of medical genetics (01.11.2019)
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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
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Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Crawford, Karen, Bracher-Smith, Matthew, Owen, David, Kendall, Kimberley M, Rees, Elliott, Pardiñas, Antonio F, Einon, Mark, Escott-Price, Valentina, Walters, James T R, O’Donovan, Michael C, Owen, Michael J, Kirov, George
Published in Journal of medical genetics (01.03.2019)
Published in Journal of medical genetics (01.03.2019)
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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C, Winqvist, Robert, Pylkäs, Katri, Tischkowitz, Marc, Dennis, Joe, Michailidou, Kyriaki, Nevanlinna, Heli, Dörk, Thilo, Radice, Paolo, Carpenter, Jane, Fasching, Peter A, Haeberle, Lothar, Peto, Julian, dos-Santos-Silva, Isabel, Johnson, Nichola, Tomlinson, Ian, Marme, Federik, Truong, Thérèse, Neuhausen, Susan, Clarke, Christina A, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Antonenkova, Natalia N, Kataja, Vesa, Wauters, Els, Smeets, Dominiek, Rudolph, Anja, Seibold, Petra, Pankratz, Vernon S, Le Marchand, Loic, Lindstrom, Sara, Glendon, Gord, Kauppila, Saila, Devilee, Peter, Hollestelle, Antoinette, Garcia-Closas, Montserrat, Figueroa, Jonine, Eriksson, Mikael, Hooning, Maartje J, Collée, J Margriet, Hall, Per, Dunning, Alison M, Hamann, Ute, Durda, Katarzyna, Yannoukakos, Drakoulis, Swerdlow, Anthony, Orr, Nick, González-Neira, Anna, Vincent, Daniel, Gronberg, Henrik, Travis, Ruth C, Hamdy, Freddie C, Cannon-Albright, Lisa, Butterbach, Katja, Batra, Jyotsna, Kote-Jarai, Zsofia, Wang-Gohrke, Shan, Sucheston-Campbell, Lara E, Friel, Grace, Lurie, Galina, Killeen, Jeffrey L, Goodman, Marc T, Butzow, Ralf, Modugno, Francesmary, Lester, Jenny, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L, Fogarty, Zachary C, Kalli, Kimberly R, Hildebrandt, Michelle A T, Iversen, Edwin S, Marks, Jeffrey R, Terry, Kathryn L, Poole, Elizabeth M, Stampfer, Meir, Orlow, Irene, Olson, Sara H, Massuger, Leon F A G, Brooks-Wilson, Angela, Le, Nhu D, Nedergaard, Lotte, Engelholm, Svend Aage, Siddiqui, Nadeem, Rothstein, Joseph H, Shu, Xiao-Ou, Sutphen, Rebecca, Narod, Steven A, Monteiro, Alvaro N, Chen, Y Ann, Tsai, Ya-Yu, Gentry-Maharaj, Aleksandra, Ramus, Susan J, Menon, Usha, Moes-Sosnowska, Joanna, Giles, Graham G, Tavtigian, Sean V
Published in Journal of medical genetics (01.12.2016)
Published in Journal of medical genetics (01.12.2016)
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Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
Mu, Jian, Wang, Wenjing, Chen, Biaobang, Wu, Ling, Li, Bin, Mao, Xiaoyan, Zhang, Zhihua, Fu, Jing, Kuang, Yanping, Sun, Xiaoxi, Li, Qiaoli, Jin, Li, He, Lin, Sang, Qing, Wang, Lei
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
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Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer
Kast, Karin, Rhiem, Kerstin, Wappenschmidt, Barbara, Hahnen, Eric, Hauke, Jan, Bluemcke, Britta, Zarghooni, Verena, Herold, Natalie, Ditsch, Nina, Kiechle, Marion, Braun, Michael, Fischer, Christine, Dikow, Nicola, Schott, Sarah, Rahner, Nils, Niederacher, Dieter, Fehm, Tanja, Gehrig, Andrea, Mueller-Reible, Clemens, Arnold, Norbert, Maass, Nicolai, Borck, Guntram, de Gregorio, Nikolaus, Scholz, Caroline, Auber, Bernd, Varon-Manteeva, Raymonda, Speiser, Dorothee, Horvath, Judit, Lichey, Nadine, Wimberger, Pauline, Stark, Sylvia, Faust, Ulrike, Weber, Bernhard H F, Emons, Gunter, Zachariae, Silke, Meindl, Alfons, Schmutzler, Rita K, Engel, Christoph
Published in Journal of medical genetics (01.07.2016)
Published in Journal of medical genetics (01.07.2016)
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The revised Ghent nosology for the Marfan syndrome
Loeys, Bart L, Dietz, Harry C, Braverman, Alan C, Callewaert, Bert L, De Backer, Julie, Devereux, Richard B, Hilhorst-Hofstee, Yvonne, Jondeau, Guillaume, Faivre, Laurence, Milewicz, Dianna M, Pyeritz, Reed E, Sponseller, Paul D, Wordsworth, Paul, De Paepe, Anne M
Published in Journal of medical genetics (01.07.2010)
Published in Journal of medical genetics (01.07.2010)
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Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
Koyanagi, Yoshito, Akiyama, Masato, Nishiguchi, Koji M, Momozawa, Yukihide, Kamatani, Yoichiro, Takata, Sadaaki, Inai, Chihiro, Iwasaki, Yusuke, Kumano, Mikako, Murakami, Yusuke, Omodaka, Kazuko, Abe, Toshiaki, Komori, Shiori, Gao, Dan, Hirakata, Toshiaki, Kurata, Kentaro, Hosono, Katsuhiro, Ueno, Shinji, Hotta, Yoshihiro, Murakami, Akira, Terasaki, Hiroko, Wada, Yuko, Nakazawa, Toru, Ishibashi, Tatsuro, Ikeda, Yasuhiro, Kubo, Michiaki, Sonoda, Koh-Hei
Published in Journal of medical genetics (01.10.2019)
Published in Journal of medical genetics (01.10.2019)
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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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