Literature DB >> 27043953

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.

Gautham Arunachal1, Sumita Danda, Sabita Omprakash, Sathish Kumar.   

Abstract

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Year:  2016        PMID： 27043953     DOI： 10.1097/MCD.0000000000000126

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

1.  Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Authors:  Gloria Negri; Pamela Magini; Donatella Milani; Milena Crippa; Elisa Biamino; Maria Piccione; Stefano Sotgiu; Chiara Perrìa; Giuseppina Vitiello; Marina Frontali; Antonella Boni; Elisabetta Di Fede; Maria Chiara Gandini; Elisa Adele Colombo; Michael J Bamshad; Deborah A Nickerson; Joshua D Smith; Italia Loddo; Palma Finelli; Marco Seri; Tommaso Pippucci; Lidia Larizza; Cristina Gervasini
Journal:  Hum Genet       Date:  2019-02-26       Impact factor: 4.132

2.  Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Authors:  Alma Kuechler; Johanna Christina Czeschik; Elisabeth Graf; Ute Grasshoff; Ulrike Hüffmeier; Tiffany Busa; Stefanie Beck-Woedl; Laurence Faivre; Jean-Baptiste Rivière; Ingrid Bader; Johannes Koch; André Reis; Ute Hehr; Olaf Rittinger; Wolfgang Sperl; Tobias B Haack; Thomas Wieland; Hartmut Engels; Holger Prokisch; Tim M Strom; Hermann-Josef Lüdecke; Dagmar Wieczorek
Journal:  Eur J Hum Genet       Date:  2016-11-30       Impact factor: 4.246

3.  A de novo truncating mutation in ASXL1 associated with segmental overgrowth.

Authors:  Stephanie Efthymiou; Vincenzo Salpietro; Erica Pironti; Maria Bonsignore; Valentina Ferrazzoli; Gabriella Di Rosa; Henry Houlden
Journal:  J Genet       Date:  2019-12       Impact factor: 1.166

4.  The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Authors:  Roser Urreizti; Semra Gürsoy; Laura Castilla-Vallmanya; Guillem Cunill; Raquel Rabionet; Derya Erçal; Daniel Grinberg; Susana Balcells
Journal:  Clin Case Rep       Date:  2018-06-10
  4 in total

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