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Molecular Psychiatry, ISSN 1359-4184, 09/2017, Volume 22, Issue 9, pp. 1313 - 1326
Hemizygous deletion of a 1.5- to 3-megabase region on chromosome 22 causes 22q11.2 deletion syndrome (22q11DS), which constitutes one of the strongest genetic... 
PERMEABILITY TRANSITION PORE | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SCHIZOPHRENIA | DISORDERS | NEUROSCIENCES | DELETION SYNDROME | PREFRONTAL CORTEX | HIPPOCAMPAL SYNAPSES | MOUSE MODEL | TBX1 HAPLOINSUFFICIENCY | BRAIN | CARDIO-FACIAL SYNDROME | Calcium - metabolism | Humans | Nuclear Proteins - metabolism | Memory, Short-Term - physiology | Mitochondria - metabolism | Haploinsufficiency | Hippocampus - metabolism | Neuronal Plasticity - genetics | Animals | Neuronal Plasticity - physiology | Schizophrenia - genetics | DiGeorge Syndrome - metabolism | Presynaptic Terminals - metabolism | Mice | Nuclear Proteins - genetics | DiGeorge Syndrome - genetics | Disease Models, Animal | Psychological aspects | Neuroplasticity | Gene mutations | Schizophrenia | Genetic aspects | Health aspects | Risk factors | Potentiation | Short term | Animal models | Deregulation | Short-term potentiation | Mental disorders | Calcium | Mitochondrial permeability transition pore | Memory | Spatial discrimination | Membrane permeability | Cognitive ability | Fluorescence | Mitochondrial DNA | Gene deletion | Cytosol | Memory tasks | Genetic code | Mitochondria | Clonal deletion | Rodents | Plasticity | Deletion | Immunological memory | Spatial analysis | Chromosome deletion | Permeability | Calcium permeability | Calcium (mitochondrial) | Plasticity (synaptic) | Chromosome 22 | Extrusion | Short term memory | Spatial memory | Original
Journal Article
by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2016, Volume 25, Issue 20, pp. 4369 - 4375
Pathological conditions caused by reduced dosage of a gene, such as gene haploinsufficiency, can potentially be reverted by enhancing the expression of the... 
MUTANT | DEFECTS | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MICE | 22Q11.2 DELETION SYNDROME | TBX1 HAPLOINSUFFICIENCY | PROTEINS | EXPRESSION | DOSAGE
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 1142 - 1151.e2
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2009, Volume 106, Issue 38, pp. 16434 - 16439
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 195 - 9
Journal Article