HuGE Literature Finder
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Records 1-33
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Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Pediatric nephrology (Berlin, Germany) 2018 Jun . Bezdí?ka Martin, Štolbová Šárka, Seeman Tomáš, Cinek Ond?ej, Malina Michal, Šimánková Nad?žda, Pr?hová Št?pánka, Zieg Jak |
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Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Pediatric nephrology (Berlin, Germany) 2017 Sep . Tan Weizhen, Lovric Svjetlana, Ashraf Shazia, Rao Jia, Schapiro David, Airik Merlin, Shril Shirlee, Gee Heon Yung, Baum Michelle, Daouk Ghaleb, Ferguson Michael A, Rodig Nancy, Somers Michael J G, Stein Deborah R, Vivante Asaf, Warejko Jillian K, Widmeier Eugen, Hildebrandt Friedhe |
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Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2017 Feb . Wang Fang, Zhang Yanqin, Mao Jianhua, Yu Zihua, Yi Zhuwen, Yu Li, Sun Jun, Wei Xiuxiu, Ding Fangrui, Zhang Hongwen, Xiao Huijie, Yao Yong, Tan Weizhen, Lovric Svjetlana, Ding Jie, Hildebrandt Friedhe |
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A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.
PloS one 2017 12 (3): e0174274. Voskarides Konstantinos, Stefanou Charalambos, Pieri Myrtani, Demosthenous Panayiota, Felekkis Kyriakos, Arsali Maria, Athanasiou Yiannis, Xydakis Dimitris, Stylianou Kostas, Daphnis Eugenios, Goulielmos Giorgos, Loizou Petros, Savige Judith, Höhne Martin, Völker Linus A, Benzing Thomas, Maxwell Patrick H, Gale Daniel P, Gorski Mathias, Böger Carsten, Kollerits Barbara, Kronenberg Florian, Paulweber Bernhard, Zavros Michalis, Pierides Alkis, Deltas Constantin |
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Relationship of angiotensin I-converting enzyme (ACE) and bradykinin B2 receptor (BDKRB2) polymorphism with diabetic nephropathy.
Biochimica et biophysica acta. Molecular basis of disease 2017 06 1863 (6): 1264-1272. Zou Honghong, Wu Guoqing, Lv Jinlei, Xu Gao |
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Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry.
Pediatric nephrology (Berlin, Germany) 2016 Oct . Hölttä Tuula, Bonthuis Marjolein, Van Stralen Karlijn J, Bjerre Anna, Topaloglu Rezan, Ozaltin Fatih, Holmberg Christer, Harambat Jerome, Jager Kitty J, Schaefer Franz, Groothoff Jaap |
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Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016 Jun . Romagnani Paola, Giglio Sabrina, Angelotti Maria Lucia, Provenzano Aldesia, Becherucci Francesca, Mazzinghi Benedetta, Müller Susanna, Amann Kerstin, Weidenbusch Marc, Romoli Simone, Lazzeri Elena, Anders Hans-Joach |
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Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2015 Dec . Büscher Anja K, Beck Bodo B, Melk Anette, Hoefele Julia, Kranz Birgitta, Bamborschke Daniel, Baig Sabrina, Lange-Sperandio Bärbel, Jungraithmayr Theresa, Weber Lutz T, Kemper Markus J, Tönshoff Burkhard, Hoyer Peter F, Konrad Martin, Weber Stefanie, |
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Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
European journal of human genetics : EJHG 2015 Sep 23 (9): 1192-9. Bullich Gemma, Trujillano Daniel, Santín Sheila, Ossowski Stephan, Mendizábal Santiago, Fraga Gloria, Madrid Álvaro, Ariceta Gema, Ballarín José, Torra Roser, Estivill Xavier, Ars Elisab |
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Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2015 Aug 30 (8): 1279-87. Cil Onur, Besbas Nesrin, Duzova Ali, Topaloglu Rezan, Peco-Anti? Amira, Korkmaz Emine, Ozaltin Fat |
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Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2015 Jul . Sun Z J, Ng K H, Liao P, Zhang Y, Ng J L, Liu I D, Tan P H, Chong S S C, Chan Y H, Liu J, Davila S, Heng C K, Jordan S C, Soong T W, Yap H |
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Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
Iranian journal of kidney diseases 2015 Jan 9 (1): 25-30. Hashemi Mohammad, Sadeghi-Bojd Simin, Rahmania Khaled, Eskandari-Nasab Ebrah |
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Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
Nephron 2015 130 (3): 200-12. Stefanou Charalambos, Pieri Myrtani, Savva Isavella, Georgiou Georgia, Pierides Alkis, Voskarides Konstantinos, Deltas Constantin |
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Coding variants in nephrin (NPHS1) and susceptibility to nephropathy in African Americans.
Clinical journal of the American Society of Nephrology : CJASN 2014 Aug 9 (8): 1434-40. Bonomo Jason A, Ng Maggie C Y, Palmer Nicholette D, Keaton Jacob M, Larsen Chris P, Hicks Pamela J, , Langefeld Carl D, Freedman Barry I, Bowden Donald |
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Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
Bosnian journal of basic medical sciences / Udruz?enje basic?nih mediciniskih znanosti = Association of Basic Medical Sciences 2014 May 14 (2): 89-93. Bi?czak-Kuleta Agnieszka, Rubik Jacek, Litwin Mieczys?aw, Ryder Ma?gorzata, Lewandowska Klaudyna, Taryma-Le?niak Olga, Clark Jeremy S, Grenda Ryszard, Ciechanowicz Andrz |
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Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2013 Jan . McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, Hegde S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA |
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[Correlation between Chinese medicine syndromes and the NPHS1 gene and NPHS2 gene polymorphism as well as corticosteroid sensitivity in patients with minimal change disease].
Zhongguo Zhong xi yi jie he za zhi Zhongguo Zhongxiyi jiehe zazhi = Chinese journal of integrated traditional and Western medicine / Zhongguo Zhong xi yi jie he xue hui, Zhongguo Zhong yi yan jiu yuan zhu ban 2012 Jul 32 (7): 914-7. Luo Yue-zhong, Wang Chao, Zeng |
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Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
Clinical nephrology 2012 Jul 78 (1): 47-53. Büscher Anja K, Konrad Martin, Nagel Mato, Witzke Oliver, Kribben Andreas, Hoyer Peter F, Weber Stefan |
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Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2011 May 6 (5): 1139-48. Santín Sheila, Bullich Gemma, Tazón-Vega Bárbara, García-Maset Rafael, Giménez Isabel, Silva Irene, Ruíz Patricia, Ballarín José, Torra Roser, Ars Elisab |
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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2010 Jul 21 (7): 1209-17. Machuca Eduardo, Benoit Geneviève, Nevo Fabien, Tête Marie-Josèphe, Gribouval Olivier, Pawtowski Audrey, Brandström Per, Loirat Chantal, Niaudet Patrick, Gubler Marie-Claire, Antignac Corin |
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Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population.
Clinica chimica acta; international journal of clinical chemistry 2010 May 411 (9-10): 714-8. Lo Wan-Yu, Chen Shih-Yin, Wang Huang-Joe, Shih Hung-Chang, Chen Cheng-Hsu, Tsai Chang-Hai, Tsai Fuu-J |
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Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients.
Clinica chimica acta; international journal of clinical chemistry 2009 Aug 406 (1-2): 108-12. Anbazhagan Kolandaswamy, Sampathkumar Krishnaswamy, Ramakrishnan Muthiah, Gomathi Paneerselvam, Gomathi Sivasamy, Selvam Govindan Sadasiv |
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Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
Clinical journal of the American Society of Nephrology : CJASN 2009 Jun 4 (6): 1065-72. Caridi Gianluca, Gigante Maddalena, Ravani Pietro, Trivelli Antonella, Barbano Giancarlo, Scolari Francesco, Dagnino Monica, Murer Luisa, Murtas Corrado, Edefonti Alberto, Allegri Landino, Amore Alessandro, Coppo Rosanna, Emma Francesco, De Palo Tommaso, Penza Rosa, Gesualdo Loreto, Ghiggeri Gian Mar |
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[Association of NPHS1 gene polymorphism with IgA nephropathy].
Zhonghua yi xue za zhi 2009 Apr 89 (13): 881-5. Yu Lei, Li Gui-sen, Lü Ji-cheng, Wang Cai-li, Zhang Ho |
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Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy.
Biological research 2009 42 (2): 189-98. González Rodrigo, Tirado Ares, Rojas Luis A, Ossandón Francisco J, Alvo Miriam, Wolff Carlos, Seelenfreund Daniela, Durruty Pilar, Lobos Serg |
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Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Pediatrics 2007 Apr 119 (4): e907-19. Hinkes Bernward G, Mucha Bettina, Vlangos Christopher N, Gbadegesin Rasheed, Liu Jinhong, Hasselbacher Katrin, Hangan Daniela, Ozaltin Fatih, Zenker Martin, Hildebrandt Friedhelm, |
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NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.
Pediatric research 2007 Jan 61 (1): 117-22. Mao Jianhua, Zhang Yang, Du Lizhong, Dai Yuwen, Gu Weizhong, Liu Ai'min, Shang Shiqiang, Liang |
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A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients.
Biological research 2007 40 (3): 357-64. González Rodrigo, Tirado Ares, Balanda Monserrat, Alvo Miriam, Barquín Inés, Durruty Pilar, Lobos Sergio, Seelenfreund Danie |
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Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).
Kidney international 2004 May 65 (5): 1856-63. Lahdenkari AT, Kestilä M, Holmberg C, Koskimies O, Jalanko H |
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Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy.
Laboratory investigation; a journal of technical methods and pathology 2003 Aug 83 (8): 1193-200. Narita Ichiei, Goto Shin, Saito Noriko, Song Jin, Kondo Daisuke, Omori Kentaro, Kawachi Hiroshi, Shimizu Fujio, Sakatsume Minoru, Ueno Mitsuhiro, Gejyo Fumita |
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Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.
Kidney international 2003 Apr 63 (4): 1205-10. Pettersson-Fernholm Kim, Forsblom Carol, Perola Markus, Groop Per-Henrik, |
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Antenatal genetic screening for congenital nephrosis.
Prenatal diagnosis 2001 Feb 21 (2): 81-4. Kallinen J, Heinonen S, Ryynänen M, Pulkkinen L, Mannermaa |
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Steroid-resistant nephrotic syndrome: impact of genetic testing.
Annals of Saudi medicine 0 33 (6): 533-8. Kari Jameela A, El-Desoky Sherif M, Gari Mamdooh, Malik Khalid, Vega-Warner Virginia, Lovric Svjetlana, Bockenhauer Detl |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
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