Publications:

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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 3868C>G; Leu1290Val

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 3868C>G; L1290V

PubMed Link: 27835667

Variant Present in the following documents:

• pone.0166288.s005.xls, sheet 1

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System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 3868C>G; L1290V

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PKD1: 3868C>G; L1290V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports

Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2015-12-03

Variant appearance in text: PKD1: 3868C>G; L1290V

PubMed Link: 26632257

Variant Present in the following documents:

View BVdb publication page

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: PKD1: L1290V

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

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Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S

Publication Date: 2011-12-20

Variant appearance in text: PKD1: Leu1290Val

PubMed Link: 22185115

Variant Present in the following documents:

• Main text
• 1471-2350-12-164.pdf

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