Literature DB >> 31628433

Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies.

Lingbo Wang1,2,3,4, Ying Zhang1,3, Xiaoyi Fu1, Shuangshuang Dong1,3, Shuyan Tang1,3,4, Ning Zhang1,3, Chengcheng Song1,3, Nan Yang1,3, Lin Zhang2, Hongyan Wang1,3,4, Huijuan Shi1, Li Jin1, Feng Zhang5,6,7, Jinsong Li8, Keqin Hua9,10.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2019        PMID： 31628433      PMCID： PMC6951337          DOI： 10.1038/s41422-019-0243-7

Source DB:  PubMed          Journal:  Cell Res        ISSN： 1001-0602            Impact factor:   25.617


× No keyword cloud information.
  1 in total

1.  Predicting disease-causing variant combinations.

Authors:  Sofia Papadimitriou; Andrea Gazzo; Nassim Versbraegen; Charlotte Nachtegael; Jan Aerts; Yves Moreau; Sonia Van Dooren; Ann Nowé; Guillaume Smits; Tom Lenaerts
Journal:  Proc Natl Acad Sci U S A       Date:  2019-05-24       Impact factor: 11.205
  1 in total
  4 in total

1.  5'-UTR SNP of FGF13 causes translational defect and intellectual disability.

Authors:  Xingyu Pan; Jingrong Zhao; Zhiying Zhou; Jijun Chen; Zhenxing Yang; Yuxuan Wu; Meizhu Bai; Yang Jiao; Yun Yang; Xuye Hu; Tianling Cheng; Qianyun Lu; Bin Wang; Chang-Lin Li; Ying-Jin Lu; Lei Diao; Yan-Qing Zhong; Jing Pan; Jianmin Zhu; Hua-Sheng Xiao; Zi-Long Qiu; Jinsong Li; Zefeng Wang; Jingyi Hui; Lan Bao; Xu Zhang
Journal:  Elife       Date:  2021-06-29       Impact factor: 8.140

Review 2.  Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

Authors:  Karina Kapczuk; Witold Kędzia
Journal:  Int J Mol Sci       Date:  2021-10-25       Impact factor: 5.923

3.  Towards key scientific questions in the diagnosis and treatment of rare diseases: Summary from the 297th Meeting of the Shuangqing Forum.

Authors:  Cai-Yun Zhu; Wei Hong; Lei Wang; Li-Jun Ding; Xue Zhang
Journal:  Zool Res       Date:  2022-03-18

4.  Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Chunfang Chu; Lin Li; Shenghui Li; Qi Zhou; Ping Zheng; Yu-Di Zhang; Ai-Hong Duan; Dan Lu; Yu-Mei Wu
Journal:  Hum Genomics       Date:  2022-03-31       Impact factor: 4.639
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.