Literature DB >> 17539913

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.

P Failla, C Romano, A Alberti, A Vasta, S Buono, L Castiglia, D Luciano, D Di Benedetto, M Fichera, O Galesi.   

Abstract

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Year:  2007        PMID： 17539913     DOI： 10.1111/j.1399-0004.2007.00819.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  22 in total

1.  Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Authors:  Jordi Soler; Lourdes Fañanás; Mara Parellada; Marie-Odile Krebs; Guy A Rouleau; Mar Fatjó-Vilas
Journal:  J Psychiatry Neurosci       Date:  2018-05-28       Impact factor: 6.186

2.  De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Authors:  Julie Gauthier; Nathalie Champagne; Ronald G Lafrenière; Lan Xiong; Dan Spiegelman; Edna Brustein; Mathieu Lapointe; Huashan Peng; Mélanie Côté; Anne Noreau; Fadi F Hamdan; Anjené M Addington; Judith L Rapoport; Lynn E Delisi; Marie-Odile Krebs; Ridha Joober; Ferid Fathalli; Fayçal Mouaffak; Ali P Haghighi; Christian Néri; Marie-Pierre Dubé; Mark E Samuels; Claude Marineau; Eric A Stone; Philip Awadalla; Philip A Barker; Salvatore Carbonetto; Pierre Drapeau; Guy A Rouleau
Journal:  Proc Natl Acad Sci U S A       Date:  2010-04-12       Impact factor: 11.205

3.  Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Authors:  Jordi Soler; Lourdes Fañanás; Mara Parellada; Marie-Odile Krebs; Guy A Rouleau; Mar Fatjó-Vilas
Journal:  J Psychiatry Neurosci       Date:  2018-07       Impact factor: 6.186

4.  22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.

Authors:  Anikó Ujfalusi; Orsolya Nagy; Beáta Bessenyei; Györgyi Lente; Irén Kántor; Ádám J Borbély; Katalin Szakszon
Journal:  Mol Syndromol       Date:  2020-04-04

5.  USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels.

Authors:  Meghan Kerrisk Campbell; Morgan Sheng
Journal:  J Neurosci       Date:  2018-05-07       Impact factor: 6.167

Review 6.  Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.

Authors:  Hala Harony-Nicolas; Silvia De Rubeis; Alexander Kolevzon; Joseph D Buxbaum
Journal:  J Child Neurol       Date:  2015-09-08       Impact factor: 1.987

7.  A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis.

Authors:  Leonhard Lennertz; Michael Wagner; Wolfgang Wölwer; Anna Schuhmacher; Ingo Frommann; Julia Berning; Svenja Schulze-Rauschenbach; Martin W Landsberg; Anja Steinbrecher; Michael Alexander; Petra E Franke; Ralf Pukrop; Stephan Ruhrmann; Andreas Bechdolf; Wolfgang Gaebel; Joachim Klosterkötter; Heinz Häfner; Wolfgang Maier; Rainald Mössner
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  2011-09-07       Impact factor: 5.270

8.  Shank Modulates Postsynaptic Wnt Signaling to Regulate Synaptic Development.

Authors:  Kathryn P Harris; Yulia Akbergenova; Richard W Cho; Maximilien S Baas-Thomas; J Troy Littleton
Journal:  J Neurosci       Date:  2016-05-25       Impact factor: 6.167

Review 9.  Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.

Authors:  Cortnie Hartwig; William J Monis; Xun Chen; Dion K Dickman; Gregory J Pazour; Victor Faundez
Journal:  Dev Neurobiol       Date:  2017-10-13       Impact factor: 3.964

Review 10.  Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries.

Authors:  Lily Wan; Du Liu; Wen-Biao Xiao; Bo-Xin Zhang; Xiao-Xin Yan; Zhao-Hui Luo; Bo Xiao
Journal:  Cell Mol Neurobiol       Date:  2021-02-17       Impact factor: 5.046
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