Literature DB >> 30879264

The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy.

Debopam Samanta1, Raghu Ramakrishnaiah2, Bradley Schaefer3.   

Abstract

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Year:  2019        PMID： 30879264     DOI： 10.1007/s13760-019-01122-6

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.471


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  6 in total

1.  POGZ promotes homology-directed DNA repair in an HP1-dependent manner.

Authors:  John Heath; Estelle Simo Cheyou; Steven Findlay; Vincent M Luo; Edgar Pinedo Carpio; Jeesan Lee; Billel Djerir; Xiaoru Chen; Théo Morin; Benjamin Lebeau; Martin Karam; Halil Bagci; Damien Grapton; Josie Ursini-Siegel; Jean-Francois Côté; Michael Witcher; Stéphane Richard; Alexandre Maréchal; Alexandre Orthwein
Journal:  EMBO Rep       Date:  2021-11-10       Impact factor: 9.071

2.  Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation.

Authors:  Cary M Wright; Stephen J Guter; Edwin H Cook
Journal:  J Autism Dev Disord       Date:  2021-04-28

3.  A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ.

Authors:  Siqin Liu; Zhenxing Yan; Yaowei Huang; Wenxia Zheng; Yiting Deng; Yang Zou; Huifang Xie
Journal:  Psychiatr Genet       Date:  2021-08-01       Impact factor: 2.574

4.  Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Authors:  Gabriele Trimarchi; Stefano Giuseppe Caraffi; Francesca Clementina Radio; Sabina Barresi; Gianluca Contrò; Simone Pizzi; Ilenia Maini; Marzia Pollazzon; Carlo Fusco; Silvia Sassi; Davide Nicoli; Manuela Napoli; Rosario Pascarella; Giancarlo Gargano; Orsetta Zuffardi; Marco Tartaglia; Livia Garavelli
Journal:  Genes (Basel)       Date:  2021-06-22       Impact factor: 4.141

5.  Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Authors:  Dóra Nagy; Sarah Verheyen; Kristen M Wigby; Artem Borovikov; Artem Sharkov; Valerie Slegesky; Austin Larson; Christina Fagerberg; Charlotte Brasch-Andersen; Maria Kibæk; Ingrid Bader; Rebecca Hernan; Frances A High; Wendy K Chung; Jolanda H Schieving; Jana Behunova; Mateja Smogavec; Franco Laccone; Martina Witsch-Baumgartner; Joachim Zobel; Hans-Christoph Duba; Denisa Weis
Journal:  Genes (Basel)       Date:  2022-01-15       Impact factor: 4.141

6.  Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report.

Authors:  Bernadette Donnarumma; Maria Pia Riccio; Gaetano Terrone; Melania Palma; Pietro Strisciuglio; Iris Scala
Journal:  Ital J Pediatr       Date:  2021-07-02       Impact factor: 2.638
  6 in total

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