Literature DB >> 20605169

Are hypersegmented neutrophils a characteristic of Boucher-Neuhäuser syndrome?

Tadashi Umehara1, Hiroshi Yaguchi, Masahiko Suzuki, Eiji Isozaki, Soichiro Mochio.   

Abstract

We report a family with Boucher-Neuhäuser syndrome (BNS). All 3 patients with BNS had hypersegmented neutrophils on peripheral-blood films. Our findings indicate that hypersegmented neutrophils are a characteristic of BNS. Blood films should therefore be examined in patients with a suspected diagnosis of BNS. Copyright (c) 2010 Elsevier B.V. All rights reserved.

Entities:  

Mesh：

Year:  2010        PMID： 20605169     DOI： 10.1016/j.jns.2010.05.005

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  4 in total

1.  Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Authors:  Kishin Koh; Fumikazu Kobayashi; Michiaki Miwa; Kazumasa Shindo; Eiji Isozaki; Hiroyuki Ishiura; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

Review 2.  Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

Authors:  A A Tarnutzer; C Gerth-Kahlert; D Timmann; D I Chang; F Harmuth; P Bauer; D Straumann; M Synofzik
Journal:  J Neurol       Date:  2014-10-31       Impact factor: 4.849

Review 3.  Movement Disorders Associated with Hypogonadism.

Authors:  Paulina Gonzalez-Latapi; Mario Sousa; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2021-07-29

Review 4.  Nuclear morphologies: their diversity and functional relevance.

Authors:  Benjamin M Skinner; Emma E P Johnson
Journal:  Chromosoma       Date:  2016-09-08       Impact factor: 4.316
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.