Results 11 to 20 of about 1,354,450 (122)

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

American Journal of Psychiatry, 2017
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to ...
International Chromosome 22q11.2 Consortium, Brain and Behavior Consortium   +1 more
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Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMAworking groups on CNVs [PDF]

, 2022
The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and ...
Ge, T., Boomsma, D., Grabe, H., Jalbrzikowski, M., McDonald-McGinn, D., Hashimoto, R., Holmes, A., Vassos, E., Stefánsson, K., Martínez, K., Mathias, S., Paus, T., Rodriguez‐Herreros, B., Draganski, B. ; https://orcid.org/, Van der Meer, D., Liu, J., Craig, M., Hottenga, J., Amunts, K., Ayesa‐Arriola, R., Hansen, L., Armstrong, N., Chow, E., Vila‐Rodriguez, F., Westlye, L., van Ent, D., Bassett, A., Espeseth, T., Glahn, D., Vila-Rodriguez, F., Reis Marques, T., Jacquemont, S., Monereo Sánchez, J., Arango, C., Prieto, C., Ching, C., Roalf, D., Draganski, B., Calhoun, V., Rucker, J., Moreau, C., Wittfeld, K., Mather, K., Gutman, B., Cichon, S., Ulfarsson, M., Tamnes, C., Thompson, P., Reymond, A., Crespo‐Facorro, B., Djurovic, S., Repetto, G., Walters, G., Vajdi, A., Sun, D., Haavik, J., Pol, H., Gur, R., Rodriguez-Herreros, B., Vázquez-Bourgon, J., Sánchez, J., Crespo-Facorro, B., Stefansson, H., Agartz, I., McDonald‐McGinn, D., Bearden, C., Donohoe, G., Sønderby, I., Hulshoff Pol, H., Ehrlich, S., Kushan, L., Thomopoulos, S., Cunningham, A., Silva, A., McRae, A., Modenato, C., Moberget, T., Butcher, N., Martin‐Brevet, S., Zackai, E., Lundervold, A., Marques, T., Van den Bree, M., Dale, A., Hibar, D., Martin-Brevet, S., Mühleisen, T., Schmitt, J., Villalon‐Reina, J., Vázquez‐Bourgon, J., Medland, S., Ciufolini, S., Knowles, E., Pausova, Z., Bakker, G., Villalon-Reina, J., Linden, D., Wen, W., Bülow, R., Doherty, J., Emanuel, B., Van 't Ent, D., Stein, D., Tordesillas-Gutiérrez, D., Fisher, S., Andreassen, O., Håberg, A., Ragothaman, A., Reinbold, C., Tordesillas‐Gutiérrez, D., Caspers, S., De Zubicaray, G., Ayesa-Arriola, R., Schofield, P., Sachdev, P., Durdle, C., Dazzan, P.   +116 more
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Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
E. Graham Davies, Davies, EG, E Graham Davies   +2 more
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Familial case of chromosome 22q11.2 deletion syndrome [PDF]

, 2017
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype.
Vlasova, E. V., Deryabina, S. S., Дерябина, С. С., Болков, М. А., Tuzankina, I. A., Власова, Е. В., Bolkov, M. A., Тузанкина, И. А.   +7 more
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Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice. [PDF]

, 2013
BACKGROUND: Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5-3 Mb microdeletion of chromosome 22q11.2, frequently referred to as 22q11.2 deletion syndrome (22q11DS).
Morrow BE, Nowotschin, Sonja, Pirity MK, Baldini, Antonio, Freyer L, Freyer, Laina, Nowotschin S, Pirity, Melinda K., Morrow, Bernice E.   +8 more
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Familial 22q11.2 deletion syndrome with autosomal dominant inheritance [PDF]

, 2016
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent ...
Gökdemir, Mahmut, Göktürk, Bahar, Yıldırım, Mahmut Selman, Mahmut Gokdemir, Bahar Gokturk, Yildirim, Mahmut Selman, ismail Reisli, Mahmut Selman Yildirim, Reisli, İsmail   +8 more
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Neurological manifestation of 22q11.2 deletion syndrome

, 2022
22q11.2 deletion syndrome is the most common microdeletion syndrome. This article reviews the different neurological manifestations of 22q11.2 deletion syndrome.
Bayat, Allan; id_orcid, Bayat, Michael
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Subjective Experience of Episodic Memory and Metacognition: A Neurodevelopmental Approach [PDF]

, 2013
Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively.
Katalin Pauly-Takacs, Francis eEustache, Bérengère Guillery-Girard, Katalin ePauly-Takacs, Souchay, C, Eustache, F, Francis Eustache, Wojcik, DZ, Pauly-Takacs, K, Celine eSouchay, Berengere eGuillery-Girard, Dominika Zofia Wojcik, Guillery-Girard, B, Céline Souchay   +13 more
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Heterotopia in Individuals with 22q11.2 Deletion Syndrome [PDF]

, 2021
BACKGROUND AND PURPOSE: MR imaging studies and neuropathologic findings in individuals with 22q11.2 deletion syndrome show anomalous early brain development. We aimed to retrospectively evaluate cerebral abnormalities, focusing on gray matter heterotopia,
Kushan, L., Bearden, CE, Rosenow, F., Hattingen, E, Hattingen, E., Breuer, S., Lin, A, Breuer, S, Jurcoane, A, Rüber, T., Herrmann, E, Rüber, T, Lin, A., Rosenow, F, Vajdi, A., Neuhaus, E, Ecker, C, Jurcoane, A., Neuhaus, E., Polomac, N., Steidl, E., Kushan, L, Steidl, E, Ecker, C., Bearden, C.E., Polomac, N, Herrmann, E., Vajdi, A   +27 more
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Neurobiological perspective of 22q11.2 deletion syndrome [PDF]

, 2019
22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum ...
van Amelsvoort, Therese A. M. J., Bassett, Anne S., van Amelsvoort, Therese A.M.J., Hiroi, Noboru, Vorstman, Jacob A.S., Zinkstok, Janneke R., Boot, Erik, Vingerhoets, Claudia, Vorstman, Jacob A. S., Butcher, Nancy J.   +9 more
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