Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and NPHP1[original query] |
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| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American journal of human genetics 2004 Jul 75 (1): 82-91. Parisi Melissa A, Bennett Craig L, Eckert Melissa L, Dobyns William B, Gleeson Joseph G, Shaw Dennis W W, McDonald Ruth, Eddy Allison, Chance Phillip F, Glass Ian |
| 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 |
| Genome-wide analysis of copy number variants in age-related macular degeneration. Human genetics 2011 Jan 129 (1): 91-100. Meyer Kacie J, Davis Lea K, Schindler Emily I, Beck John S, Rudd Danielle S, Grundstad A Jason, Scheetz Todd E, Braun Terry A, Fingert John H, Alward Wallace L, Kwon Young H, Folk James C, Russell Stephen R, Wassink Thomas H, Stone Edwin M, Sheffield Val |
| 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 |
| Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. Iranian journal of kidney diseases 2018 8 12 (4): 240-242. Hussain Sofia, Akhtar Naureen, Qamar Reem, Khan Naima, Naeem Muhamm |
| Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. International journal of molecular epidemiology and genetics 2019 9 10 (4): 53-58. Chen Huamu, Lin Hongrong, Yue Zhihui, Wang Haiyan, Yang Junhui, Sun Liangzho |
| Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
| 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, , |
| Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening. Molecular medicine reports 2020 1 21 (3): 1115-1124. Tang Chunrong, Zhou Daoyuan, Tan Rongshao, Zhong Xiaoshi, Xiao Xiao, Qin Danping, Liu Yun, Hu Jianguang, Liu Y |
| 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, |
| Two rare copy number variants involving loss of NPHP1, MALL, and MTLN genes contribute to nephronophthisis-induced nephropathy progression in a family: A case report. Nigerian journal of clinical practice 2023 5 26 (4): 524-527. C H Liu, L J Li, M Tian, G H Cao, S F Zhang, J T |
| [Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient]. Hipertension y riesgo vascular 2023 3 . Heras Benito M, Pérez García M L, Antúnez Plaza P, Montero Mateos |
| 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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