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Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy

Autor: Yuval Yogev, Jacob Bistritzer, Yair Sadaka, Analia Michaelovsky, Yuval Cavari, Yael Feinstein, Munir Abu-Madegem, Yakov Fellig, Ohad Wormser, Max Drabkin, Daniel Halperin, Ohad S. Birk

Publikováno v: Molecular Diagnosis & Therapy. 26:561-568

Congenital myopathies are a broad group of inborn muscle disorders caused by a multitude of genetic factors, often characterized by muscle atrophy and hypotonia.Clinical studies, imaging, histology, whole-exome sequencing (WES) and muscle tissue RNA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::210193735332646372759943eb0acd2b
https://doi.org/10.1007/s40291-022-00601-6

Differential methylation of imprinting genes and MHC locus in 22q11.2 deletion syndrome-related schizophrenia spectrum disorders.

Autor: Carmel, Miri^1,2 (AUTHOR), Michaelovsky, Elena^1,2 (AUTHOR), Weinberger, Ronnie³ (AUTHOR), Frisch, Amos^1,2 (AUTHOR), Mekori-Domachevsky, Ehud^1,3 (AUTHOR), Gothelf, Doron^1,3,4 (AUTHOR), Weizman, Abraham^1,2,4,5 (AUTHOR)

Publikováno v: World Journal of Biological Psychiatry. Jan2021, Vol. 22 Issue 1, p46-57. 12p.

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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Autor: Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S, Heung, Tracy, Holleman, Aaron M, Johnston, H Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M, Gur, Raquel E, Morrow, Bernice E, Swillen, Ann, Vorstman, Jacob AS, Bearden, Carrie E, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, Warren, Stephen T, Owen, Michael J, Chopra, Pankaj, Cutler, David J, Duncan, Richard, Kotlar, Alex V, Mulle, Jennifer G, Voss, Anna J, Zwick, Michael E, Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I, Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James TR, Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J, Costain, Gregory A, Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese AMJ, van Duin, Esther, Vingerhoets, Claudia, Breckpot, Jeroen, Devriendt, Koen, Vergaelen, Elfi, Vogels, Annick, Crowley, T Blaine, McGinn, Daniel E, Moss, Edward M, Sharkus, Robert J, Unolt, Marta, Zackai, Elaine H, Calkins, Monica E, Gallagher, Robert S, Gur, Ruben C, Tang, Sunny X, Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M, Breetvelt, Elemi, Duijff, Sasja N, Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C, Prasad, Sarah E, Daly, Eileen M, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Buzzanca, Antonio, Fabio, Fabio Di, Digilio, Maria C, Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F, Ousley, Opal Y, Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, Schneider, Maude

Publikováno v: Molecular psychiatry, vol 26, iss 8

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::32f66e4eba32686804f3949cd756407d
https://escholarship.org/uc/item/1wx189cs