Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and NPHP4[original query] |
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| Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Human mutation 2005 Apr 25 (4): 411. Hoefele Julia, Sudbrak Ralf, Reinhardt Richard, Lehrack Silvia, Hennig Steffen, Imm Anita, Muerb Ulla, Utsch Boris, Attanasio Massimo, O'Toole John F, Otto Edgar, Hildebrandt Friedhe |
| The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: the Takahata study. Journal of human genetics 2010 Dec 55 (12): 791-5. Konta Tsuneo, Takasaki Satoshi, Ichikawa Kazunobu, Emi Mitsuru, Toriyama Sayumi, Satoh Hitoshi, Ikeda Ami, Suzuki Kazuko, Mashima Yusuke, Shibata Yoko, Watanabe Tetsu, Kato Takeo, Kawata Sumio, Kubota Is |
| 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 |
| Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
| Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study. Heart and vessels 2021 Sep . Otaki Yoichiro, Watanabe Tetsu, Sato Junya, Kobayashi Yuta, Aono Tomonori, Saito Yuji, Goto Jun, Takahashi Hiroki, Arimoto Takanori, Sato Hidenori, Konta Tsuneo, Ueno Yoshiyuki, Watanabe Masafu |
| 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, |
| Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. Journal of the American Heart Association 2023 2 12 (4): e028226. Chui Martin M C, Mak Christopher C Y, Yu Mullin H C, Wong Sandra Y Y, Lun Kin-Shing, Yung Tak-Cheung, Kwong Anna K Y, Chow Pak-Cheong, Chung Brian H |
| Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023 11 . Eun Suk Jung, David Ellinghaus, Frauke Degenhardt, Akira Meguro, Seik-Soon Khor, Sören Mucha, Mareike Wendorff, Simonas Juzenas, Nobuhisa Mizuki, Katsushi Tokunaga, Seung Won Kim, Min Goo Lee, Stefan Schreiber, Won Ho Kim, Andre Franke, Jae Hee Che |
| Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis. Pediatric nephrology (Berlin, Germany) 2024 8 . Carlotta Hellmann, Kai Wohlgemuth, Petra Pennekamp, Sebastian George, Mareike Dahmer-Heath, Martin Konrad, Heymut Omran, Jens König, |
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