Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Nephronophthisis[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 |
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Journal of the American Society of Nephrology : JASN 2007 May 18 (5): 1566-75. Tory Kálmán, Lacoste Tiphanie, Burglen Lydie, Morinière Vincent, Boddaert Nathalie, Macher Marie-Alice, Llanas Brigitte, Nivet Hubert, Bensman Albert, Niaudet Patrick, Antignac Corinne, Salomon Rémi, Saunier Soph |
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
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 |
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, |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature genetics 2011 1 43 (3): 189-96. Davis Erica E, Zhang Qi, Liu Qin, Diplas Bill H, Davey Lisa M, Hartley Jane, Stoetzel Corinne, Szymanska Katarzyna, Ramaswami Gokul, Logan Clare V, Muzny Donna M, Young Alice C, Wheeler David A, Cruz Pedro, Morgan Margaret, Lewis Lora R, Cherukuri Praveen, Maskeri Baishali, Hansen Nancy F, Mullikin James C, Blakesley Robert W, Bouffard Gerard G, , Gyapay Gabor, Rieger Susanne, Tönshoff Burkhard, Kern Ilse, Soliman Neveen A, Neuhaus Thomas J, Swoboda Kathryn J, Kayserili Hulya, Gallagher Tomas E, Lewis Richard A, Bergmann Carsten, Otto Edgar A, Saunier Sophie, Scambler Peter J, Beales Philip L, Gleeson Joseph G, Maher Eamonn R, Attié-Bitach Tania, Dollfus Hélène, Johnson Colin A, Green Eric D, Gibbs Richard A, Hildebrandt Friedhelm, Pierce Eric A, Katsanis Nichol |
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Archives of ophthalmology (Chicago, Ill. : 1960) 2011 Jan 129 (1): 81-7. Stone Edwin M, Cideciyan Artur V, Aleman Tomas S, Scheetz Todd E, Sumaroka Alexander, Ehlinger Mary A, Schwartz Sharon B, Fishman Gerald A, Traboulsi Elias I, Lam Byron L, Fulton Anne B, Mullins Robert F, Sheffield Val C, Jacobson Samuel |
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 |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Journal of medical genetics 2015 Dec . Schueler Markus, Halbritter Jan, Phelps Ian G, Braun Daniela A, Otto Edgar A, Porath Jonathan D, Gee Heon Yung, Shendure Jay, O'Roak Brian J, Lawson Jennifer A, Nabhan Marwa M, Soliman Neveen A, Nabhan Marwa M, Doherty Dan, Hildebrandt Friedhe |
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016 Mar . Bullich Gemma, Vargas Iván, Trujillano Daniel, Mendizábal Santiago, Piñero-Fernández Juan Alberto, Fraga Gloria, García-Solano José, Ballarín José, Estivill Xavier, Torra Roser, Ars Elisab |
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 |
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. Journal of the American Society of Nephrology : JASN 2018 Apr . Snoek Rozemarijn, van Setten Jessica, Keating Brendan J, Israni Ajay K, Jacobson Pamala A, Oetting William S, Matas Arthur J, Mannon Roslyn B, Zhang Zhongyang, Zhang Weijia, Hao Ke, Murphy Barbara, Reindl-Schwaighofer Roman, Heinzl Andreas, Oberbauer Rainer, Viklicky Ondrej, Conlon Peter J, Stapleton Caragh P, Bakker Stephan J L, Snieder Harold, Peters Edith D J, van der Zwaag Bert, Knoers Nine V A M, de Borst Martin H, van Eerde Albertien |
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 |
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Human genetics 2019 6 138 (10): 1105-1115. Kitzler Thomas M, Schneider Ronen, Kohl Stefan, Kolvenbach Caroline M, Connaughton Dervla M, Dai Rufeng, Mann Nina, Nakayama Makiko, Majmundar Amar J, Wu Chen-Han W, Kari Jameela A, El Desoky Sherif M, Senguttuvan Prabha, Bogdanovic Radovan, Stajic Natasa, Valivullah Zaheer, Lek Monkol, Mane Shrikant, Lifton Richard P, Tasic Velibor, Shril Shirlee, Hildebrandt Friedhe |
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle. Frontiers in genetics 2019 10 453. Cañadas-Garre Marisa, Anderson Kerry, Cappa Ruaidhri, Skelly Ryan, Smyth Laura Jane, McKnight Amy Jayne, Maxwell Alexander Pet |
Expression of vitamin D receptor in renal tissue of lupus nephritis and its association with renal injury activity. Lupus 2019 Jan 961203319826704. Sun J, Zhang S, Liu J S, Gui M, Zhang |
Living donor liver transplantation for congenital hepatic fibrosis in children. Pathology international 2020 3 70 (6): 348-354. Irie Rie, Nakazawa Atsuko, Sakamoto Seisuke, Takeda Masahiro, Yanagi Yusuke, Shimizu Seiichi, Uchida Hajime, Fukuda Akinari, Miyazaki Osamu, Nosaka Syunsuke, Kasahara Mur |
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 |
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 |
Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5. Frontiers in genetics 2021 12 697085. Wang Xiaoyuan, Xiao Huijie, Yao Yong, Xu Ke, Liu Xiaoyu, Su Baige, Zhang Hongwen, Guan Na, Zhong Xuhui, Zhang Yanqin, Ding Jie, Wang Fa |
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 |
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. Pediatric nephrology (Berlin, Germany) 2021 11 37 (7): 1567-1574. Xiao Hongbo, Hildebrandt Friedhe |
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 |
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 |
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report. Heliyon 2024 1 10 (1): e23257. Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi L |
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- Page last updated:Apr 29, 2024
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