المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7rq0h7ddTest

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

المؤلفون: Kim, Hyung-Goo, Kim, Hyun-Taek, Leach, Natalia T, Lan, Fei, Ullmann, Reinhard, Silahtaroglu, Asli, Kurth, Ingo, Nowka, Anja, Seong, Ihn Sik, Shen, Yiping, Talkowski, Michael E, Ruderfer, Douglas, Lee, Ji-Hyun, Glotzbach, Caron, Ha, Kyungsoo, Kjaergaard, Susanne, Levin, Alex V, Romeike, Bernd F, Kleefstra, Tjitske, Bartsch, Oliver, Elsea, Sarah H, Jabs, Ethylin Wang, MacDonald, Marcy E, Harris, David J, Quade, Bradley J, Ropers, Hans-Hilger, Shaffer, Lisa G, Kutsche, Kerstin, Layman, Lawrence C, Tommerup, Niels, Kalscheuer, Vera M, Shi, Yang, Morton, Cynthia C, Kim, Cheol-Hee, Gusella, James F

المصدر: Kim , H-G , Kim , H-T , Leach , N T , Lan , F , Ullmann , R , Silahtaroglu , A , Kurth , I , Nowka , A , Seong , I S , Shen , Y , Talkowski , M E , Ruderfer , D , Lee , J-H , Glotzbach , C , Ha , K , Kjaergaard , S , Levin , A V , Romeike , B F , Kleefstra , T , Bartsch , O , Elsea , S H , Jabs , E W , MacDonald , M E ....

مصطلحات موضوعية: Adolescent, Adult, Animals, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 11, Craniofacial Abnormalities, Female, Genotype, Haploinsufficiency, Histone Deacetylases, Humans, Infant, Newborn, Intellectual Disability, Male, Sodium Channels, Translocation, Genetic, Zebrafish

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.05.005Test
https://curis.ku.dk/portal/da/publications/translocations-disrupting-phf21a-in-the-potockishaffersyndrome-region-are-associated-with-intellectual-disability-and-craniofacial-anomaliesTest(0b84887a-c431-44e9-ad40-a65bd266c750).html