Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

Autor: Marra Marco, Lemyre Emmanuelle, Langlois Sylvie, Lam Wan L, Eydoux Patrice, Delaney Allen, Coe Bradley P, Chénier Sébastien, Chan Susanna, Chai David, Montpetit Alexandre, Tucker Tracy, Qian Hong, Rouleau Guy A, Vincent David, Michaud Jacques L, Friedman Jan M

Publikováno v: BMC Medical Genomics, Vol 4, Iss 1, p 25 (2011)

Abstract Background Clinical laboratories are adopting array genomic hybridization as a standard clinical test. A number of whole genome array genomic hybridization platforms are available, but little is known about their comparative performance in a

Externí odkaz: https://doaj.org/article/70ce637817d340d7b384a4f269306f8d

Familial deletion 18p syndrome: case report

Autor: Lemyre Emmanuelle, Lemieux Nicole, Maranda Bruno

Publikováno v: BMC Medical Genetics, Vol 7, Iss 1, p 60 (2006)

Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical de

Externí odkaz: https://doaj.org/article/1e7f180c465240548487fccd2722db4c

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Human Chromosome 7: DNA Sequence and Biology

Autor: Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee

Publikováno v: Science, 2003 May 01. 300(5620), 767-772.

Externí odkaz: https://www.jstor.org/stable/3834252

P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis

Autor: Tremblay-Laganière, Camille, Ehresmann, Sophie, Levtova, Alina, Gauthier, Julie, Fu, He, McEvilly, Robert, Rosenfeld, Michael, Simard-Tremblay, Elisabeth, DeBie, Isabelle, Soucy, Jean-Francois, Michaud, Jacques, Lemyre, Emmanuelle, Campeau, Philippe

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement