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29 results for 22q11+Deletion+Syndrome+-+genetics

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Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia
Author / Creator:Greene, C ; Kealy, J ; Humphries, M M ; Gong, Y ; Hou, J ; Hudson, N ; Cassidy, L M ; Martiniano, R ; Shashi, V ; Hooper, S R ; Grant, G A ; Kenna, P F ; Norris, K ; Callaghan, C K ; Islam, M dN ; O’Mara, S M ; Najda, Z ; Campbell, S G ; Pachter, J S ; Thomas, J ; Williams, N M ; Humphries, P ; Murphy, K C ; Campbell, M
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2018-11, Vol.23 (11), p.2156-2166
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Increased l1 retrotransposition in the neuronal genome in schizophrenia
Author / Creator:Bundo, Miki ; Toyoshima, Manabu ; Okada, Yohei ; Akamatsu, Wado ; Ueda, Junko ; Nemoto-Miyauchi, Taeko ; Sunaga, Fumiko ; Toritsuka, Michihiro ; Ikawa, Daisuke ; Kakita, Akiyoshi ; Kato, Motoichiro ; Kasai, Kiyoto ; Kishimoto, Toshifumi ; Nawa, Hiroyuki ; Okano, Hideyuki ; Yoshikawa, Takeo ; Kato, Tadafumi ; Iwamoto, Kazuya
Publisher:United States: Elsevier Limited
Journal title:Neuron (Cambridge, Mass.), 2014-01, Vol.81 (2), p.306-313
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Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS
Author / Creator:Ayoub, Sophie ; De Clercq, Eva ; Cytrynbaum, Cheryl ; Steiner, Luzius A ; Elger, Bernice S
Publisher:United States: Public Library of Science
Journal title:PloS one, 2025-01, Vol.20 (1), p.e0313845
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Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models
Author / Creator:Chun, Sungkun ; Westmoreland, Joby J. ; Bayazitov, Ildar T. ; Eddins, Donnie ; Pani, Amar K. ; Smeyne, Richard J. ; Yu, Jing ; Blundon, Jay A. ; Zakharenko, Stanislav S.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2014-06, Vol.344 (6188), p.1178-1182
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Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?
Author / Creator:de Oliveira Figueiredo, Eva Cristina ; Bondiolotti, Bianca Maria ; Laugeray, Anthony ; Bezzi, Paola
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-04, Vol.23 (8), p.4412
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Analysis of induced pluripotent stem cells carrying 22q11.2 deletion
Author / Creator:Toyoshima, M ; Akamatsu, W ; Okada, Y ; Ohnishi, T ; Balan, S ; Hisano, Y ; Iwayama, Y ; Toyota, T ; Matsumoto, T ; Itasaka, N ; Sugiyama, S ; Tanaka, M ; Yano, M ; Dean, B ; Okano, H ; Yoshikawa, T
Publisher:London: Nature Publishing Group UK
Journal title:Translational psychiatry, 2016-11, Vol.6 (11), p.e934-e934
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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Author / Creator:Dingemans, Alexander J M ; Stremmelaar, Diante E ; van der Donk, Roos ; Vissers, Lisenka E L M ; Koolen, David A ; Rump, Patrick ; Hehir-Kwa, Jayne Y ; de Vries, Bert B A
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1418-1423
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Psychopathology and cognition in children with 22q11.2 deletion syndrome
Author / Creator:Niarchou, Maria ; Zammit, Stanley ; van Goozen, Stephanie H. M. ; Thapar, Anita ; Tierling, Hayley M. ; Owen, Michael J. ; Van Den Bree, Marianne B. M.
Publisher:Cambridge, UK: Cambridge University Press
Journal title:British journal of psychiatry, 2014-01, Vol.204 (1), p.46-54
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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
Author / Creator:Poirsier, Céline ; Besseau-Ayasse, Justine ; Schluth-Bolard, Caroline ; Toutain, Jérôme ; Missirian, Chantal ; Le Caignec, Cédric ; Bazin, Anne ; de Blois, Marie Christine ; Kuentz, Paul ; Catty, Marie ; Choiset, Agnès ; Plessis, Ghislaine ; Basinko, Audrey ; Letard, Pascaline ; Flori, Elisabeth ; Jimenez, Mélanie ; Valduga, Mylène ; Landais, Emilie ; Lallaoui, Hakima ; Cartault, François ; Lespinasse, James ; Martin-Coignard, Dominique ; Callier, Patrick ; Pebrel-Richard, Céline ; Portnoi, Marie-France ; Busa, Tiffany ; Receveur, Aline ; Amblard, Florence ; Yardin, Catherine ; Harbuz, Radu ; Prieur, Fabienne ; Le Meur, Nathalie ; Pipiras, Eva ; Kleinfinger, Pascale ; Vialard, François ; Doco-Fenzy, Martine
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.844-851
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Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
Author / Creator:Pelgrim, Teuntje A. D. ; Bossong, Matthijs G. ; Cuiza, Analía ; Alliende, Luz María ; Mena, Carlos ; Tepper, Angeles ; Ramirez-Mahaluf, Juan Pablo ; Iruretagoyena, Barbara ; Ornstein, Claudia ; Fritsch, Rosemarie ; Cruz, Juan Pablo ; Tejos, Cristian ; Repetto, Gabriela ; Crossley, Nicolas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-11, Vol.11 (1), p.21623-21623, Article 21623
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Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model
Author / Creator:Toritsuka, Michihiro ; Kimoto, Sohei ; Muraki, Kazue ; Landek-Salgado, Melissa A. ; Yoshida, Atsuhiro ; Yamamoto, Norio ; Horiuchi, Yasue ; Hiyama, Hideki ; Tajinda, Katsunori ; Ni Keni ; Illingworth, Elizabeth ; Iwamoto, Takashi ; Kishimoto, Toshifumi ; Sawa, Akira ; Tanigaki, Kenji
Publisher:Washington, DC: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-10, Vol.110 (43), p.17552-17557
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Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome
Author / Creator:Lasprilla-Tovar, Juan ; Zuluaga, Nora Alejandra ; Forero, Carolina ; Correa-Jiménez, Oscar ; Sierra, Javier Mauricio
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2023-03, Vol.15 (1), p.16-24
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Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature
Author / Creator:Hoyos-Bachiloglu, Rodrigo ; Gallo, Silvanna ; Vizcaya, Cecilia ; Zuñiga, Pamela ; Valbuena, José R. ; Casanova, Jean Laurent ; Bustamante, Jacinta ; Borzutzky, Arturo
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2019-10, Vol.39 (7), p.743-746
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No age effect in the prevalence and clinical significance of ultra-high risk symptoms and criteria for psychosis in 22q11 deletion syndrome: Confirmation of the genetically driven risk for psychosis?
Author / Creator:Armando, Marco ; Schneider, Maude ; Pontillo, Maria ; Vicari, Stefano ; Debbané, Martin ; Schultze-Lutter, Frauke ; Eliez, Stephan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-04, Vol.12 (4), p.e0174797-e0174797
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Restoring wild-type-like CA1 network dynamics and behavior during adulthood in a mouse model of schizophrenia
Author / Creator:Marissal, Thomas ; Salazar, Rodrigo F. ; Bertollini, Cristina ; Mutel, Sophie ; De Roo, Mathias ; Rodriguez, Ivan ; Müller, Dominique ; Carleton, Alan
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2018-10, Vol.21 (10), p.1412-1420
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Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders
Author / Creator:Saito, Ryo ; Miyoshi, Chika ; Koebis, Michinori ; Kushima, Itaru ; Nakao, Kazuki ; Mori, Daisuke ; Ozaki, Norio ; Funato, Hiromasa ; Yanagisawa, Masashi ; Aiba, Atsu
Publisher:England: BioMed Central Ltd
Journal title:Molecular brain, 2021-04, Vol.14 (1), p.68-15, Article 68
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Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome
Author / Creator:Lingman Framme, Jenny ; Borte, Stephan ; von Döbeln, Ulrika ; Hammarström, Lennart ; Óskarsdóttir, Sólveig
Publisher:Boston: Springer US
Journal title:Journal of clinical immunology, 2014-05, Vol.34 (4), p.514-519
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Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome
Author / Creator:Magnée, Maurice J C M ; Lamme, Victor A F ; de Sain-van der Velden, Monique G M ; Vorstman, Jacob A S ; Kemner, Chantal
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-10, Vol.6 (10), p.e25882-e25882
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Neuropathology of 22q11 Deletion Syndrome in an Infant
Author / Creator:Wu, Peter ; Teot, Lisa ; Murdoch, Geoffrey ; Monaghan-Nichols, A. Paula ; McFadden, Kathryn
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Pediatric and developmental pathology, 2014-09, Vol.17 (5), p.386-392
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Candidate modifier genes for immune function in 22q11.2 deletion syndrome
Author / Creator:Pinnaro, Catherina T. ; Henry, Travis ; Major, Heather J. ; Parida, Mrutyunjaya ; DesJardin, Lucy E. ; Manak, John R. ; Darbro, Benjamin W.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1057-n/a
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Showing 1 to 20 of 29 results

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Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia

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Increased l1 retrotransposition in the neuronal genome in schizophrenia

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Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS

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Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models

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Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?

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Analysis of induced pluripotent stem cells carrying 22q11.2 deletion

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

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Psychopathology and cognition in children with 22q11.2 deletion syndrome

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

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Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome

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Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model

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Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome

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Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature

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No age effect in the prevalence and clinical significance of ultra-high risk symptoms and criteria for psychosis in 22q11 deletion syndrome: Confirmation of the genetically driven risk for psychosis?

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Restoring wild-type-like CA1 network dynamics and behavior during adulthood in a mouse model of schizophrenia

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Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders

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Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome

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Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome

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Neuropathology of 22q11 Deletion Syndrome in an Infant

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Candidate modifier genes for immune function in 22q11.2 deletion syndrome

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