Literature DB >> 30805980

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation.

Nobuhiko Okamoto1, Hiroshi Arai2, Toshikazu Onishi3, Takeshi Mizuguchi4, Naomichi Matsumoto4.   

Abstract

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Year:  2019        PMID: 30805980     DOI: 10.1111/cga.12330

Source DB:  PubMed          Journal:  Congenit Anom (Kyoto)        ISSN: 0914-3505            Impact factor:   1.409


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  3 in total

Review 1.  X-Linked Dystonia-Parkinsonism: recent advances.

Authors:  D Cristopher Bragg; Nutan Sharma; Laurie J Ozelius
Journal:  Curr Opin Neurol       Date:  2019-08       Impact factor: 5.710

Review 2.  Transcription Pause and Escape in Neurodevelopmental Disorders.

Authors:  Kristel N Eigenhuis; Hedda B Somsen; Debbie L C van den Berg
Journal:  Front Neurosci       Date:  2022-05-09       Impact factor: 5.152

3.  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Authors:  Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amalia Mallawaarachchi; Julie Vogt; Sonja A de Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L Waugh; Laurence Faivre; Jean-Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F Buckley; Paul R Mark; Lesley C Adès; Sarah A Sandaradura; James R Lupski; Tony Roscioli; Pankaj B Agrawal; Antonie D Kline; Kai Wang; H T Marc Timmers; Gholson J Lyon
Journal:  Hum Mutat       Date:  2019-10-23       Impact factor: 4.878

  3 in total

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