المؤلفون: De Rocker, Nina, Vergult, Sarah, Koolen, David, Jacobs, Eva, Hoischen, Alexander, Zeesman, Susan, Bang, Birgitte, Béna, Frédérique, Bockaert, Nele, Bongers, Ernie M, de Ravel, Thomy, Devriendt, Koenraad, Giglio, Sabrina, Faivre, Laurence, Joss, Shelagh, Maas, Saskia, Marle, Nathalie, Novara, Francesca, Nowaczyk, Malgorzata J M, Peeters, Hilde, Polstra, Abeltje, Roelens, Filip, Rosenberg, Carla, Thevenon, Julien, Tümer, Zeynep, Vanhauwaert, Suzanne, Varvagiannis, Konstantinos, Willaert, Andy, Willemsen, Marjolein, Willems, Marjolaine, Zuffardi, Orsetta, Coucke, Paul, Speleman, Frank, Eichler, Evan E, Kleefstra, Tjitske, Menten, Björn

المصدر: De Rocker , N , Vergult , S , Koolen , D , Jacobs , E , Hoischen , A , Zeesman , S , Bang , B , Béna , F , Bockaert , N , Bongers , E M , de Ravel , T , Devriendt , K , Giglio , S , Faivre , L , Joss , S , Maas , S , Marle , N , Novara , F , Nowaczyk , M J M , Peeters , H , Polstra , A , Roelens , F , Rosenberg , C , Thevenon , ....

مصطلحات موضوعية: Adolescent, Adult, Animals, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 2, Cohort Studies, Facies, Female, Gene Duplication, Gene Expression, Genetic Association Studies, Humans, Intellectual Disability, Male, Middle Aged, Nerve Tissue Proteins, Obesity, Point Mutation, Transcription Factors, Young Adult, Zebrafish

الإتاحة: https://doi.org/10.1038/gim.2014.124Test
https://curis.ku.dk/portal/da/publications/refinement-of-the-critical-2p253-deletion-regionTest(d0d647c4-5b1c-4a9b-9508-0293ee471a09).html

المؤلفون: Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M, Kibæk, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J M, Rosenfeld, Jill A, Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S, Hirschhorn, Joel N, Hastings, Michelle L, Jacquemont, Sebastien, Katsanis, Nicholas

المصدر: Dauber , A , Golzio , C , Guenot , C , Jodelka , F M , Kibæk , M , Kjaergaard , S , Leheup , B , Martinet , D , Nowaczyk , M J M , Rosenfeld , J A , Zeesman , S , Zunich , J , Beckmann , J S , Hirschhorn , J N , Hastings , M L , Jacquemont , S & Katsanis , N 2013 , ' SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant ' , American Journal of Human Genetics ....

مصطلحات موضوعية: Adolescent, Alleles, Animals, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 8, DNA Copy Number Variations, Developmental Disabilities, Female, Gene Deletion, Gene Knockdown Techniques, HeLa Cells, Humans, Intellectual Disability, Male, Membrane Proteins, Microcephaly, Phenotype, RNA-Binding Proteins, Repressor Proteins, Tumor Suppressor Proteins, Zebrafish

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/bbd5a63c-cd74-4a27-a3ca-2a3a38098beeTest

الإتاحة: https://doi.org/10.1016Test/j.ajhg.2013.09.010
https://portal.findresearcher.sdu.dk/da/publications/bbd5a63c-cd74-4a27-a3ca-2a3a38098beeTest

المؤلفون: 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, Heng, Henry H Q, Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G, Pober, Barbara, Morton, Cynthia C, Gusella, James F, Bruns, Gail A P, 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, Winsor, Elizabeth J T, 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

المصدر: Scherer , S W , Cheung , J , MacDonald , J R , Osborne , L R , Nakabayashi , K , Herbrick , J-A , Carson , A R , Parker-Katiraee , L , Skaug , J , Khaja , R , Zhang , J , Hudek , A K , Li , M , Haddad , M , Duggan , G E , Fernandez , B A , Kanematsu , E , Gentles , S , Christopoulos , C C , Choufani , S , Kwasnicka , D , Zheng , X H , Lai , ....

مصطلحات موضوعية: Animals, Autistic Disorder, Chromosome Aberrations, Chromosome Fragile Sites, Chromosome Fragility, Chromosome Mapping, Chromosomes, Human, Pair 7, Computational Biology, Congenital Abnormalities, CpG Islands, DNA, Complementary, Databases, Genetic, Euchromatin, Expressed Sequence Tags, Gene Duplication, Genes, Overlapping, Genetic Diseases, Inborn, Genomic Imprinting, Humans, In Situ Hybridization, Fluorescence, Limb Deformities, Congenital, Mice

الإتاحة: https://doi.org/10.1126/science.1083423Test
https://research.manchester.ac.uk/en/publications/64c5f636-447c-4f5e-9e62-97dc078dbb22Test