Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities von Noor, A., Bogatan, S., Watkins, N., Meschino, W.S., Stavropoulos, D.J.

Volltext

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome von Masellis, Mario, Momeni, Parastoo, Meschino, Wendy, Heffner, Reid, Elder, Joshua, Sato, Christine, Liang, Yan, George-Hyslop, Peter St, Hardy, John, Bilbao, Juan, Black, Sandra, Rogaeva, Ekaterina

Volltext

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion von Park, Sung-Sup, Anyane-Yeboa, Kwame, Chen, Ken-Shiung, Kimonis, Virginia, Meschino, Wendy S, Summers, Anne M, Osterholm, Doreen E, Withers, Marjorie A, Potocki, Lorraine, Kashork, Catherine D, Shaffer, Lisa G, Lupski, James R

Volltext

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort von Yoon, G., Baskin, B., Tarnopolsky, M., Boycott, K. M., Geraghty, M. T., Sell, E., Goobie, S., Meschino, W., Banwell, B., Ray, P. N.

Volltext

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer von Aronson, M, Swallow, C, Govindarajan, A, Semotiuk, K, Cohen, Z, Kaurah, P, Velsher, L, Ambus, I, Buckley, K, Forster-Gibson, C, Meschino, W S, Blumenthal, A, Kim, R H, Brar, S

Volltext

Prevalence and penetrance of BRCA1 and BRCA2 gene Mutations in unselected Ashkenazi Jewish women with breast cancer von WARNER, E, FOULKES, W, DI PROSPERO, L, CONTIGA, V, SERRUYA, C, KLEIN, M, MOSLEHI, R, HONEYFORD, J, LIEDE, A, GLENDON, G, BRUNET, J.-S, NAROD, S, GOODWIN, P, MESCHINO, W, BLONDAL, J, PATERSON, C, OZCELIK, H, GOSS, P, ALLINGHAM-HAWKINS, D, HAMEL, N

Volltext

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations von Rogaeva, E A, Fafel, K C, Song, Y Q, Medeiros, H, Sato, C, Liang, Y, Richard, E, Rogaev, E I, Frommelt, P, Sadovnick, A D, Meschino, W, Rockwood, K, Boss, M A, Mayeux, R, St George-Hyslop, P

Volltext

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000 von Creighton, S, Almqvist, EW, MacGregor, D, Fernandez, B, Hogg, H, Beis, J, Welch, JP, Riddell, C, Lokkesmoe, R, Khalifa, M, MacKenzie, J, Sajoo, A, Farrell, S, Robert, F, Shugar, A, Summers, A, Meschino, W, Allingham-Hawkins, D, Chiu, T, Hunter, A, Allanson, J, Hare, H, Schween, J, Collins, L, Sanders, S, Greenberg, C, Cardwell, S, Lemire, E, MacLeod, P, Hayden, MR

Volltext

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers von KOTSOPOULOS, Joanne, LUBINSKI, Jan, DOMCHEK, Susan, RANDALL, Susan, OFFIT, Kenneth, TUNG, Nadine, AINSWORTH, Peter, GERSHONI-BARUCH, Ruth, EISEN, Andrea, DALY, Mary, KARLAN, Beth, SAAL, Howard M, LYNCH, Henry T, COUCH, Fergus, PASINI, Barbara, WAGNER, Teresa, FRIEDMAN, Eitan, RENNERT, Gad, ENG, Charis, WEITZEL, Jeffrey, PING SUN, NAROD, Steven A, KLIJN, Jan, GHADIRIAN, Parviz, NEUHAUSEN, Susan L, KIRN-SING, Charmaine, FOULKES, William D, MOLLER, Pal, ISAACS, Claudine

Volltext

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred von Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, V A, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, A K, MacNamara, E, Sart, D Du, Chong, G, Foulkes, W D

Volltext

Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2 von Phillips, Kelly-Anne, Warner, Ellen, Meschino, Wendy S, Hunter, Jon, Abdolell, Mohamed, Glendon, Gordon, Andrulis, Irene L, Goodwin, Pamela J

Volltext

Not on the face alone: perception of contextualized face expressions in Huntington's disease von Aviezer, Hillel, Bentin, Shlomo, Hassin, Ran R., Meschino, Wendy S., Kennedy, Jeanne, Grewal, Sonya, Esmail, Sherali, Cohen, Sharon, Moscovitch, Morris

Volltext

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers von Metcalfe, Kelly A., Birenbaum‐Carmeli, Daphna, Lubinski, Jan, Gronwald, Jacek, Lynch, Henry, Moller, Pal, Ghadirian, Parviz, Foulkes, William D., Klijn, Jan, Friedman, Eitan, Kim‐Sing, Charmaine, Ainsworth, Peter, Rosen, Barry, Domchek, Susan, Wagner, Teresa, Tung, Nadine, Manoukian, Siranoush, Couch, Fergus, Sun, Ping, Narod, Steven A.

Volltext

External validation of prognostic models to predict stillbirth using International Prediction of Pregnancy Complications (IPPIC) Network database: individual participant data meta‐... von Smuk, M., Dadelszen, P., Heazell, A. E. P., Magee, L., Smith, G. C. S., Sandall, J., Riley, R. D., Khalil, A., Thangaratinam, S., Kwong, Alex, Uiterwaal, Cuno S. P. M., Staff, Annetine C., Andersen, Louise Bjoerkholt, Olive, Elisa Llurba, Redman, Christopher, Daskalakis, George, Macleod, Maureen, Thilaganathan, Baskaran, Massé, Jacques, Khalil, Asma, Audibert, Francois, Magnus, Per Minor, Jenum, Anne Karen, Baschat, Ahmet, Ohkuchi, Akihide, West, Jane, Mone, Fionnuala, Farrar, Diane, Riddell, Catherine, Post, Joris, Illanes, Sebastián E., Holzman, Claudia, Kuijk, Sander M. J., Carbillon, Lionel, Eskild, Anne, Chappell, Lucy, Prefumo, Federico, Velauthar, Luxmi, Seed, Paul, Verlohren, Stefan, Ferrazzi, Enrico, Vinter, Christina A., Nagata, Chie, Brown, Mark, Vollebregt, Karlijn C., Takeda, Satoru, Langenveld, Josje, Widmer, Mariana, Haavaldsen, Camilla, Olsen, Jørn, Wolf, Hans, Zavaleta, Nelly, Lumbiganon, Pisake, Makrides, Maria, Sequeira, Evan, Gibson, Robert, Ferrazzani, Sergio, Frusca, Tiziana, Norman, Jane E., Figueiró, Ernesto A., Lapaire, Olav, Lykke, Jacob A., Conde‐Agudelo, Agustin, Galindo, Alberto, Mbah, Alfred, Betran, Ana Pilar, Trogstad, Lill, Smith, Gordon G. S., Steegers, Eric A. P., Salim, Read, Huang, Tianhua, Adank, Annemarijne, Zhang, Jun, Meschino, Wendy S., Allen, Rebecca E., Costa, Fabricio Da Silva, Jørgensen, Jan Stener, Rumbold, Alice R., Mol, Ben W., Kenny, Louise C., Ganzevoort, Wessel, Myers, Jenny, Yeo, Seon Ae, McCowan, Lesley, Pajkrt, Eva, Teede, Helena J., Haddad, Bassam G., Kleinrouweler, Emily C., Roberts, Claire T., Groen, Henk, Heinonen, Seppo, Eero, Kajantie, Anggraini, Dewi, Souka, Athena, Monterio, Ilza, Pillalis, Athanasios, Crovetto, Francesca, Jorgensen, Laura, Dodds, Julie, Patel, Mehali

Volltext

Genetics and insurance von Meschino, Wendy S

Volltext

GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians von Carroll, June C, Wilson, Brenda J, Allanson, Judith, Grimshaw, Jeremy, Blaine, Sean M, Meschino, Wendy S, Permaul, Joanne A, Graham, Ian D

Volltext

Surveillance of BRCA1 and BRCA2 Mutation Carriers With Magnetic Resonance Imaging, Ultrasound, Mammography, and Clinical Breast Examination von Warner, Ellen, Plewes, Donald B, Hill, Kimberley A, Causer, Petrina A, Zubovits, Judit T, Jong, Roberta A, Cutrara, Margaret R, DeBoer, Gerrit, Yaffe, Martin J, Messner, Sandra J, Meschino, Wendy S, Piron, Cameron A, Narod, Steven A

Volltext

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations von Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A, Torchia, Beth S, Shaffer, Lisa G

Volltext

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study von Kotsopoulos, Joanne, Librach, Clifford L, Lubinski, Jan, Gronwald, Jacek, Kim-Sing, Charmaine, Ghadirian, Parviz, Lynch, Henry T, Moller, Pal, Foulkes, William D, Randall, Susan, Manoukian, Siranoush, Pasini, Barbara, Tung, Nadine, Ainsworth, Peter J, Cummings, Shelly, Sun, Ping, Narod, Steven A

Volltext

Abstract P3-02-10: Implementation and uptake of a provincial, population-based, organized breast screening program for high risk women in Ontario: The Ontario breast screening prog... von Eisen, A, Carroll, J, Chiarelli, AM, Horgan, M, Meschino, W, Rabeneck, L, Shumak, R, Warner, E

Volltext