Literature DB >> 27128385

Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

Kunihiko Moriya1, Hidetaka Niizuma1, Takeshi Rikiishi1, Hiroki Yamaguchi2, Yoji Sasahara1, Shigeo Kure1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27128385     DOI： 10.1002/pbc.26030

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


× No keyword cloud information.
  5 in total

Review 1.  Genetics of human telomere biology disorders.

Authors:  Patrick Revy; Caroline Kannengiesser; Alison A Bertuch
Journal:  Nat Rev Genet       Date:  2022-09-23       Impact factor: 59.581

Review 2.  Telomerase Regulation from Beginning to the End.

Authors:  Deanna Elise MacNeil; Hélène Jeanne Bensoussan; Chantal Autexier
Journal:  Genes (Basel)       Date:  2016-09-14       Impact factor: 4.096

3.  Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

Authors:  R Michael Sivley; Jonathan H Sheehan; Jonathan A Kropski; Joy Cogan; Timothy S Blackwell; John A Phillips; William S Bush; Jens Meiler; John A Capra
Journal:  BMC Bioinformatics       Date:  2018-01-23       Impact factor: 3.169

4.  Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Authors:  Carsten Speckmann; Sushree Sangita Sahoo; Marta Rizzi; Shinsuke Hirabayashi; Axel Karow; Nina Kathrin Serwas; Marc Hoemberg; Natalja Damatova; Detlev Schindler; Jean-Baptiste Vannier; Simon J Boulton; Ulrich Pannicke; Gudrun Göhring; Kathrin Thomay; J J Verdu-Amoros; Holger Hauch; Wilhelm Woessmann; Gabriele Escherich; Eckart Laack; Liliana Rindle; Maximilian Seidl; Anne Rensing-Ehl; Ekkehart Lausch; Christine Jandrasits; Brigitte Strahm; Klaus Schwarz; Stephan R Ehl; Charlotte Niemeyer; Kaan Boztug; Marcin W Wlodarski
Journal:  Front Immunol       Date:  2017-05-01       Impact factor: 7.561

5.  The effects of the elastin polymorphisms on carotid intima-media thickness in women aged 30 - 70.

Authors:  Seung-Taek Lim; Jin-Kee Park; Sang-Hyuk Park; Eun-Jae Lee; Woo-Nam Kim; Seok-Ki Min
Journal:  J Exerc Nutrition Biochem       Date:  2018-06-30
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.