Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants...
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Autor*in:	Breckpot, Jeroen [verfasserIn] Vercruyssen, Marieke Weyts, Eddy Vandevoort, Sean D'Haenens, Greet Van Buggenhout, Griet Leempoels, Lore Brischoux-Boucher, Elise Van Maldergem, Lionel Renieri, Alessandra Mencarelli, Maria Antonietta D'Angelo, Carla Mericq, Veronica Hoffer, Mariette J. Tauber, Maithé Molinas, Catherine Castiglioni, Claudia Brison, Nathalie Vermeesch, Joris R. Danckaerts, Marina Sienaert, Pascal Devriendt, Koenraad Vogels, Annick

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Schlagwörter:	SUPT16H SHANK3 Catatonia 14q11.2 duplication Psychiatric disorder

Umfang:	8

Übergeordnetes Werk:	Enthalten in: Edge minimization in de Bruijn graphs - Baier, Uwe ELSEVIER, 2021, New York, NY [u.a.]
Übergeordnetes Werk:	volume:59 ; year:2016 ; number:9 ; pages:436-443 ; extent:8

Links:	Volltext

DOI / URN:	10.1016/j.ejmg.2016.08.003

Katalog-ID:	ELV024389099

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language	English
source	Enthalten in Edge minimization in de Bruijn graphs New York, NY [u.a.] volume:59 year:2016 number:9 pages:436-443 extent:8
sourceStr	Enthalten in Edge minimization in de Bruijn graphs New York, NY [u.a.] volume:59 year:2016 number:9 pages:436-443 extent:8
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topic_facet	SUPT16H SHANK3 Catatonia 14q11.2 duplication Psychiatric disorder
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container_title	Edge minimization in de Bruijn graphs
authorswithroles_txt_mv	Breckpot, Jeroen @@aut@@ Vercruyssen, Marieke @@oth@@ Weyts, Eddy @@oth@@ Vandevoort, Sean @@oth@@ D'Haenens, Greet @@oth@@ Van Buggenhout, Griet @@oth@@ Leempoels, Lore @@oth@@ Brischoux-Boucher, Elise @@oth@@ Van Maldergem, Lionel @@oth@@ Renieri, Alessandra @@oth@@ Mencarelli, Maria Antonietta @@oth@@ D'Angelo, Carla @@oth@@ Mericq, Veronica @@oth@@ Hoffer, Mariette J. @@oth@@ Tauber, Maithé @@oth@@ Molinas, Catherine @@oth@@ Castiglioni, Claudia @@oth@@ Brison, Nathalie @@oth@@ Vermeesch, Joris R. @@oth@@ Danckaerts, Marina @@oth@@ Sienaert, Pascal @@oth@@ Devriendt, Koenraad @@oth@@ Vogels, Annick @@oth@@
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author	Breckpot, Jeroen
spellingShingle	Breckpot, Jeroen ddc 570 ddc 330 fid LING bkl 54.00 bkl 31.80 Elsevier SUPT16H Elsevier SHANK3 Elsevier Catatonia Elsevier 14q11.2 duplication Elsevier Psychiatric disorder Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
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topic_title	570 570 DE-600 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor SUPT16H Elsevier SHANK3 Elsevier Catatonia Elsevier 14q11.2 duplication Elsevier Psychiatric disorder Elsevier
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title	Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
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title_full	Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
author_sort	Breckpot, Jeroen
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title_sort	copy number variation analysis in adults with catatonia confirms haploinsufficiency of shank3 as a predisposing factor
title_auth	Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
abstract	Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), known to predispose to neurodevelopmental disorders, may play a role in the etiology of catatonia.
abstractGer	Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), known to predispose to neurodevelopmental disorders, may play a role in the etiology of catatonia.
abstract_unstemmed	Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), known to predispose to neurodevelopmental disorders, may play a role in the etiology of catatonia.
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title_short	Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
url	https://doi.org/10.1016/j.ejmg.2016.08.003
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author2	Vercruyssen, Marieke Weyts, Eddy Vandevoort, Sean D'Haenens, Greet Van Buggenhout, Griet Leempoels, Lore Brischoux-Boucher, Elise Van Maldergem, Lionel Renieri, Alessandra Mencarelli, Maria Antonietta D'Angelo, Carla Mericq, Veronica Hoffer, Mariette J. Tauber, Maithé Molinas, Catherine Castiglioni, Claudia Brison, Nathalie Vermeesch, Joris R. Danckaerts, Marina Sienaert, Pascal Devriendt, Koenraad Vogels, Annick
author2Str	Vercruyssen, Marieke Weyts, Eddy Vandevoort, Sean D'Haenens, Greet Van Buggenhout, Griet Leempoels, Lore Brischoux-Boucher, Elise Van Maldergem, Lionel Renieri, Alessandra Mencarelli, Maria Antonietta D'Angelo, Carla Mericq, Veronica Hoffer, Mariette J. Tauber, Maithé Molinas, Catherine Castiglioni, Claudia Brison, Nathalie Vermeesch, Joris R. Danckaerts, Marina Sienaert, Pascal Devriendt, Koenraad Vogels, Annick
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doi_str	10.1016/j.ejmg.2016.08.003
up_date	2024-07-06T21:18:23.837Z
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