Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease

Por Maciel, Patrícia, Gaspar, Claudia, DeStefano, Anita L., Silveira, Isabel, Coutinho, Paula, Radvany, João, Dawson, David M., Sudarsky, Lewis, Guimarães, João, Loureiro, Jose E. L., Nezarati, Marjan M., Corwin, Lee I., Lopes-Cendes, Iscia, Rooke, Karen, Rosenberg, Roger, MacLeod, Patrick, Farrer, Lindsay A., Sequeiros, Jorge, Rouleau, Guy A.
Publicado em 1995

Increased LIS1 expression affects human and mouse brain development

Por Bi, Weimin, Sapir, Tamar, Shchelochkov, Oleg A, Zhang, Feng, Withers, Marjorie A, Hunter, Jill V, Levy, Talia, Shinder, Vera, Peiffer, Daniel A, Gunderson, Kevin L, Nezarati, Marjan M, Shotts, Vern Ann, Amato, Stephen S, Savage, Sarah K, Harris, David J, Day-Salvatore, Debra-Lynn, Horner, Michele, Lu, Xin-Yan, Sahoo, Trilochan, Yanagawa, Yuchio, Beaudet, Arthur L, Cheung, Sau Wai, Martinez, Salvador, Lupski, James R, Reiner, Orly
Publicado no Nat Genet (2009)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Por de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Publicado no J Med Genet (2016)

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Por Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.
Publicado em 2012