Literature DB >> 12181069

Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring.

Kathleen F Benson, Marshall Horwitz.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12181069     DOI： 10.1046/j.1365-2141.2002.03631_3.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


× No keyword cloud information.
  6 in total

Review 1.  Severe congenital neutropenias.

Authors:  Julia Skokowa; David C Dale; Ivo P Touw; Cornelia Zeidler; Karl Welte
Journal:  Nat Rev Dis Primers       Date:  2017-06-08       Impact factor: 52.329

Review 2.  Congenital neutropenia: diagnosis, molecular bases and patient management.

Authors:  Jean Donadieu; Odile Fenneteau; Blandine Beaupain; Nizar Mahlaoui; Christine Bellanné Chantelot
Journal:  Orphanet J Rare Dis       Date:  2011-05-19       Impact factor: 4.123

3.  Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.

Authors:  Osamu Hirata; Satoshi Okada; Miyuki Tsumura; Shuhei Karakawa; Itaru Matsumura; Yujiro Kimura; Toshiro Maihara; Shin'ichiro Yasunaga; Yoshihiro Takihara; Osamu Ohara; Masao Kobayashi
Journal:  J Clin Immunol       Date:  2015-04-26       Impact factor: 8.317

Review 4.  ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Authors:  Marshall S Horwitz; Seth J Corey; H Leighton Grimes; Timothy Tidwell
Journal:  Hematol Oncol Clin North Am       Date:  2012-11-07       Impact factor: 3.722

Review 5.  Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.

Authors:  Barbara Bosch; Yuval Itan; Isabelle Meyts
Journal:  F1000Res       Date:  2017-11-28

6.  CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.

Authors:  Masoud Nasri; Malte Ritter; Perihan Mir; Benjamin Dannenmann; Narges Aghaallaei; Diana Amend; Vahagn Makaryan; Yun Xu; Breanna Fletcher; Regine Bernhard; Ingeborg Steiert; Karin Hahnel; Jürgen Berger; Iris Koch; Brigitte Sailer; Katharina Hipp; Cornelia Zeidler; Maksim Klimiankou; Baubak Bajoghli; David C Dale; Karl Welte; Julia Skokowa
Journal:  Haematologica       Date:  2019-06-27       Impact factor: 9.941
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.