Literature DB >> 27987548

Genetics of Kidney Diseases.

Friedhelm Hildebrandt1.   

Abstract

Entities:  

Keywords:  ADCK4; ARHGDIA; COQ6; KANK; MYO1E; Recessive mutations

Mesh：

Substances：

Year:  2016        PMID： 27987548     DOI： 10.1016/j.semnephrol.2016.09.011

Source DB:  PubMed          Journal:  Semin Nephrol        ISSN： 0270-9295            Impact factor:   5.299


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  3 in total

1.  An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Authors:  Zhigang Wang; Hongen Xu; Tianchao Xiang; Danhua Liu; Fei Xu; Lixiang Zhao; Yonghua Feng; Linan Xu; Jialu Liu; Ye Fang; Huanfei Liu; Ruijun Li; Xinxin Hu; Jingyuan Guan; Longshan Liu; Guiwen Feng; Qian Shen; Hong Xu; Dmitrij Frishman; Wenxue Tang; Jiancheng Guo; Jia Rao; Wenjun Shang
Journal:  NPJ Genom Med       Date:  2021-07-02       Impact factor: 8.617

2.  Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.

Authors:  Shu-Bo Zhai; Li Zhang; Bai-Chao Sun; Yan Zhang; Qing-Shan Ma
Journal:  BMC Nephrol       Date:  2020-09-21       Impact factor: 2.388

3.  Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Authors:  Jiyoung Oh; Jae Il Shin; Keumwha Lee; CheolHo Lee; Younhee Ko; Jin-Sung Lee
Journal:  Clin Genet       Date:  2020-12-07       Impact factor: 4.438
  3 in total

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