Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: NPHP3[original query] |
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Journal of medical genetics 2012 Dec 49 (12): 756-67. Halbritter Jan, Diaz Katrina, Chaki Moumita, Porath Jonathan D, Tarrier Brendan, Fu Clementine, Innis Jamie L, Allen Susan J, Lyons Robert H, Stefanidis Constantinos J, Omran Heymut, Soliman Neveen A, Otto Edgar |
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. Nephrology (Carlton, Vic.) 2015 Jul . Sun Liangzhong, Tong Huajuan, Wang Haiyan, Yue Zhihui, Liu Ting, Lin Hongrong, Li Jun, Wang Chang |
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans. Human genetics 2016 Jul . Guan Meijian, Ma Jun, Keaton Jacob M, Dimitrov Latchezar, Mudgal Poorva, Stromberg Mary, Bonomo Jason A, Hicks Pamela J, Freedman Barry I, Bowden Donald W, Ng Maggie C |
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy. Journal of medical genetics 2020 12 59 (2): 147-154. Tang Xiaoshan, Liu Cuihua, Liu Xiaorong, Chen Jing, Fan Xiaoyan, Liu Jialu, Ma Duan, Cao Guanghai, Chen Zhi, Xu Daliang, Zhu Ying, Jiang Xiaoyun, Cheng Lizhi, Wu Yubing, Hou Ling, Li Yuhong, Shao Xiaoshan, Zheng Shasha, Zhang Aihua, Zheng Bixia, Jian Shan, Rong Zanhua, Su Qingxiao, Gao Xia, Rao Jia, Shen Qian, Xu Hong, , |
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea. Journal of pediatric endocrinology & metabolism : JPEM 2020 10 33 (12): 1539-1550. Cheon Chong Kun, Lee Yeoun Joo, Yoo Sukdong, Lee Jung Hee, Lee Jeong Eun, Kim Hyun Ji, Choi Im Jeong, Choi Yeonsong, Lee Semin, Yoon Ju You |
Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis. Kidney international reports 2021 May 6 (5): 1346-1354. Fujimaru Takuya, Kawanishi Kunio, Mori Takayasu, Mishima Eikan, Sekine Akinari, Chiga Motoko, Mizui Masayuki, Sato Noriaki, Yanagita Motoko, Ooki Yuki, Nagahama Kiyotaka, Ohnuki Yuko, Hamano Naoto, Watanabe Saki, Mochizuki Toshio, Nagatsuji Katsushi, Tanaka Kenichi, Tsukamoto Tatsuo, Tsushima Hideo, Shimamoto Mamiko, Tsuji Takahiro, Kuyama Tamaki, Kawamoto Shinya, Maki Kenji, Katsuma Ai, Oishi Mariko, Yamamoto Kouhei, Mandai Shintaro, Kikuchi Hiroaki, Ando Fumiaki, Mori Yutaro, Susa Koichiro, Iimori Soichiro, Naito Shotaro, Rai Tatemitsu, Hoshino Junichi, Ubara Yoshifumi, Miyazaki Mariko, Nagata Michio, Uchida Shinichi, Sohara Eis |
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney international reports 2022 9 7 (9): 2016-2028. König Jens Christian, Karsay Rebeka, Gerß Joachim, Schlingmann Karl-Peter, Dahmer-Heath Mareike, Telgmann Anna-Katharina, Kollmann Sabine, Ariceta Gema, Gillion Valentine, Bockenhauer Detlef, Bertholet-Thomas Aurélia, Mastrangelo Antonio, Boyer Olivia, Lilien Marc, Decramer Stéphane, Schanstra Joost P, Pohl Martin, Schild Raphael, Weber Stefanie, Hoefele Julia, Drube Jens, Cetiner Metin, Hansen Matthias, Thumfart Julia, Tönshoff Burkhard, Habbig Sandra, Liebau Max Christoph, Bald Martin, Bergmann Carsten, Pennekamp Petra, Konrad Martin, |
Renal cell carcinoma in an adult-onset ESRD patient with nephronophthisis harboring NPHP3 deletion: A case report. Heliyon 2024 4 10 (7): e28985. Zuo-Lin Li, Feng-Mei Wang, Yi Wen, Hai-Feng Ni, Xiao-Liang Zhang, Bin Wa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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