Literature DB >> 10861670

Bohring syndrome.

H G Brunner, J P van Tintelen, R J de Boer.   

Abstract

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Year:  2000        PMID： 10861670     DOI： 10.1002/1096-8628(20000619)92:5<366::aid-ajmg15>3.0.co;2-u

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 in total

1.  Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Authors:  Bianca Russell; Jennifer J Johnston; Leslie G Biesecker; Nancy Kramer; Angela Pickart; William Rhead; Wen-Hann Tan; Catherine A Brownstein; L Kate Clarkson; Amy Dobson; Avi Z Rosenberg; Samantha A Schrier Vergano; Benjamin M Helm; Rachel E Harrison; John M Graham
Journal:  Am J Med Genet A       Date:  2015-04-29       Impact factor: 2.802

2.  De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Authors:  Vandana Shashi; Loren D M Pena; Katherine Kim; Barbara Burton; Maja Hempel; Kelly Schoch; Magdalena Walkiewicz; Heather M McLaughlin; Megan Cho; Nicholas Stong; Scott E Hickey; Christine M Shuss; Michael S Freemark; Jane S Bellet; Martha Ann Keels; Melanie J Bonner; Maysantoine El-Dairi; Megan Butler; Peter G Kranz; Constance T R M Stumpel; Sylvia Klinkenberg; Karin Oberndorff; Malik Alawi; Rene Santer; Slavé Petrovski; Outi Kuismin; Satu Korpi-Heikkilä; Olli Pietilainen; Palotie Aarno; Mitja I Kurki; Alexander Hoischen; Anna C Need; David B Goldstein; Fanny Kortüm
Journal:  Am J Hum Genet       Date:  2016-09-29       Impact factor: 11.025

3.  Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720-2A>G variant.

Authors:  Zuzanna Kanduła; Renata Kroll-Balcerzak; Krzysztof Lewandowski
Journal:  J Clin Lab Anal       Date:  2022-04-18       Impact factor: 3.124

4.  Expanding our knowledge of conditions associated with the ASXL gene family.

Authors:  Bianca Russell; John M Graham
Journal:  Genome Med       Date:  2013-02-21       Impact factor: 11.117
  4 in total

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