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344 results for 22q11+Deletion+Syndrome

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ArticlesPeer ReviewedFull Text
22q11 deletion syndrome: current perspective
Author / Creator:Hacıhamdioğlu, Bülent ; Hacıhamdioğlu, Duygu ; Delil, Kenan
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2015-01, Vol.8 (default), p.123-132
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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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G27(P) 22Q11 deletion syndrome – improving initial investigations at a tertiary cardiac centre
Author / Creator:Sohal, I ; Pearce, AJ ; Harris, M
Publisher:London: BMJ Publishing Group LTD
Journal title:Archives of disease in childhood, 2020-10, Vol.105 (Suppl 1), p.A7-A7
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Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
Author / Creator:Framme, Jenny Lingman ; Lundqvist, Christina ; Lundell, Anna-Carin ; van Schouwenburg, Pauline A. ; Lemarquis, Andri L. ; Thörn, Karolina ; Lindgren, Susanne ; Gudmundsdottir, Judith ; Lundberg, Vanja ; Degerman, Sofie ; Zetterström, Rolf H. ; Borte, Stephan ; Hammarström, Lennart ; Telemo, Esbjörn ; Hultdin, Magnus ; van der Burg, Mirjam ; Fasth, Anders ; Oskarsdóttir, Sólveig ; Ekwall, Olov
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-04, Vol.42 (3), p.618-633
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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome
Author / Creator:Paylor, Richard ; Glaser, Beate ; Mupo, Annalisa ; Ataliotis, Paris ; Spencer, Corinne ; Sobotka, Angela ; Sparks, Chelsey ; Choi, Chul-Hee ; Oghalai, John ; Curran, Sarah ; Murphy, Kieran C ; Monks, Stephen ; Williams, Nigel ; O'Donovan, Michael C ; Owen, Michael J ; Scambler, Peter J ; Lindsay, Elizabeth
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2006-05, Vol.103 (20), p.7729-7734
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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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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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Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome
Author / Creator:Boot, Erik ; Booij, Jan ; Zinkstok, Janneke ; Abeling, Nico ; de Haan, Lieuwe ; Baas, Frank ; Linszen, Don ; van Amelsvoort, Thérèse
Publisher:Cham: Springer International Publishing
Journal title:Neuropsychopharmacology (New York, N.Y.), 2008-05, Vol.33 (6), p.1252-1258
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Proton magnetic resonance spectroscopy in 22q11 deletion syndrome
Author / Creator:da Silva Alves, Fabiana ; Boot, Erik ; Schmitz, Nicole ; Nederveen, Aart ; Vorstman, Jacob ; Lavini, Christina ; Pouwels, Petra J ; Pouwels, Petra ; de Haan, Lieuwe ; Linszen, Don ; van Amelsvoort, Therese
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-06, Vol.6 (6), p.e21685-e21685
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GP107 Integrated care for 22q11 deletion syndrome in ireland – meeting children’s needs through enhanced care co-ordination
Author / Creator:McCormack, Siobhan ; Orr, David ; McNicholas, Fiona ; Leahy, Ronan ; Kelleher, Suzanne
Publisher:London: BMJ Publishing Group LTD
Journal title:Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A73
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GP212 22q11 Deletion syndrome in ireland – review of mental health needs in children from a newly established clinic
Author / Creator:McCormack, Siobhan ; Gadancheva, Vaselina ; Kerin, Lorna ; Kelleher, Suzanne ; McNicholas, Fiona
Publisher:London: BMJ Publishing Group LTD
Journal title:Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A116
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Sleep patterns and problems among children with 22q11 deletion syndrome
Author / Creator:Arganbright, Jill M. ; Tracy, Meghan ; Hughes, Susan Starling ; Ingram, David G.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-06, Vol.8 (6), p.e1153-n/a
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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Author / Creator:Jeanne, Médéric ; Vuillaume, Marie-Laure ; Ung, Dévina C. ; Vancollie, Valerie E. ; Wagner, Christel ; Collins, Stephan C. ; Vonwill, Sandrine ; Haye, Damien ; Chelloug, Nora ; Pfundt, Rolph ; Kummeling, Joost ; Moizard, Marie-Pierre ; Marouillat, Sylviane ; Kleefstra, Tjitske ; Yalcin, Binnaz ; Laumonnier, Frédéric ; Toutain, Annick
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-06, Vol.140 (6), p.885-896
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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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Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
Author / Creator:Óskarsdóttir, S ; Vujic, M ; Fasth, A
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2004-02, Vol.89 (2), p.148-151
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22q11 Deletion Syndrome with Vascular Anomalies
Author / Creator:Maldjian, Pierre ; Sanders, Alison
Publisher:United States: Wolters Kluwer India Pvt. Ltd
Journal title:Journal of clinical imaging science, 2018-01, Vol.8 (1), p.1-1, Article 1
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22q11 Deletion Syndrome: Neonatal Workup and Childhood Follow-up
Author / Creator:Garami, Anna
Publisher:Paterna: Ubiquity Press
Journal title:International journal of integrated care, 2021-09, Vol.21 (S1), p.159
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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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Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome
Author / Creator:Evers, Laurens J. M. ; van Amelsvoort, Therese A. M. J. ; Bakker, Jaap A. ; de Koning, Mariken ; Drukker, Marjan ; Curfs, Leopold M. G.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Psychopharmacology, 2015-09, Vol.232 (18), p.3319-3325
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Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome
Author / Creator:Karpinski, Beverly A ; Maynard, Thomas M ; Fralish, Matthew S ; Nuwayhid, Samer ; Zohn, Irene E ; Moody, Sally A ; LaMantia, Anthony-S
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2014-02, Vol.7 (2), p.245-257
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Showing 1 to 20 of 344 results

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22q11 deletion syndrome: current perspective

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

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G27(P) 22Q11 deletion syndrome – improving initial investigations at a tertiary cardiac centre

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Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs

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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 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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Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome

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Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome

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Proton magnetic resonance spectroscopy in 22q11 deletion syndrome

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GP107 Integrated care for 22q11 deletion syndrome in ireland – meeting children’s needs through enhanced care co-ordination

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GP212 22q11 Deletion syndrome in ireland – review of mental health needs in children from a newly established clinic

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Sleep patterns and problems among children with 22q11 deletion syndrome

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

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

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Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

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22q11 Deletion Syndrome with Vascular Anomalies

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22q11 Deletion Syndrome: Neonatal Workup and Childhood Follow-up

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Increased l1 retrotransposition in the neuronal genome in schizophrenia

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Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome

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Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome

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