Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Vissers, Lisenka ELM"'
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Autor: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Undiagnosed Diseases Network, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, GEM HUGO, Deciphering Developmental Disorders Study, Petrovski, Slavé, Retterer, Kyle
Publikováno v: American journal of human genetics, vol 101, iss 5
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a mul
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::ecf333e5ccd1635987b9bd62a15cacad
https://escholarship.org/uc/item/9gc6k2mk
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4
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Autor: Kim, Jung-Hyun, Shinde, Deepali N, Reijnders, Margot RF, Hauser, Natalie S, Belmonte, Rebecca L, Wilson, Gregory R, Bosch, Daniëlle GM, Bubulya, Paula A, Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K, Park, Eun Young, Veltman, Joris A, Sinnema, Margje, Stumpel, Connie TRM, Draaisma, Jos M, Nicolai, Joost, University of Washington Center for Mendelian Genomics, Yntema, Helger G, Lindstrom, Kristin, de Vries, Bert BA, Jewett, Tamison, Santoro, Stephanie L, Vogt, Julie, Deciphering Developmental Disorders Study, Bachman, Kristine K, Seeley, Andrea H, Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M, Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A, Behunova, Jana, Rehder, Helga, Gordon, Christopher T, Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T, McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander PA, Stevens, Servi JC, Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G, Brunner, Han G, Mancini, Grazia M, Myers, Richard M, Owen, Laurie B, Lim, Ssang-Taek, Stachura, David L, Vissers, Lisenka ELM, Ahn, Eun-Young Erin
Publikováno v: American journal of human genetics, vol 99, iss 3
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detaile
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ddbeb120ccc73f1bda52af5a65cca88f
https://escholarship.org/uc/item/27g3h88z
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10
Akademický článek
Point mutations as a source of de novo genetic disease.
Autor: de Ligt, Joep1, Veltman, Joris A1, Vissers, Lisenka ELM1 L.Vissers@gen.umcn.nl
Publikováno v: Current Opinion in Genetics & Development. Jun2013, Vol. 23 Issue 3, p257-263. 7p.
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