Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Proteinuria and NPHS2[original query] |
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| NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatric nephrology (Berlin, Germany) 2003 May 18 (5): 412-6. Maruyama Kyoko, Iijima Kazumoto, Ikeda Masahiro, Kitamura Akiko, Tsukaguchi Hiroyasu, Yoshiya Kunihiko, Hoshii Sakurako, Wada Naohiro, Uemura Osamu, Satomura Kenichi, Honda Masataka, Yoshikawa Norishi |
| Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney international 2005 Jul 68 (1): 256-62. Dusel Judith A Engeler, Burdon Kathryn P, Hicks Pamela J, Hawkins Gregory A, Bowden Donald W, Freedman Barry |
| Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron. Clinical practice 2005 1 99 (2): c31-6. Aucella Filippo, De Bonis Patrizia, Gatta Giuseppe, Muscarella Lucia Anna, Vigilante Mimmo, di Giorgio Giuseppe, D'Errico Michele, Zelante Leopoldo, Stallone Carmine, Bisceglia Lui |
| Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome. Gene expression 2006 13 (1): 59-66. Oleggini Roberta, Bertelli Roberta, Di Donato Armando, Di Duca Marco, Caridi Gianluca, Sanna-Cherchi Simone, Scolari Francesco, Murer Luisa, Allegri Landino, Coppo Rosanna, Emma Francesco, Camussi Giovanni, Perfumo Francesco, Ghiggeri Gian Mar |
| NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genetics in medicine : official journal of the American College of Medical Genetics 2006 Feb 8 (2): 63-75. Franceschini Nora, North Kari E, Kopp Jeffrey B, McKenzie Louise, Winkler Cher |
| Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatric research 2006 Feb 59 (2): 325-31. Mucha Bettina, Ozaltin Fatih, Hinkes Bernward G, Hasselbacher Katrin, Ruf Rainer G, Schultheiss Michael, Hangan Daniela, Hoskins Bethan E, Everding Anne Schulze, Bogdanovic Radovan, Seeman Thomas, Hoppe Bernd, Hildebrandt Friedhelm, |
| Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. Diabetologia 2008 Jan 51 (1): 86-90. Ihalmo P, Wessman M, Kaunisto M A, Kilpikari R, Parkkonen M, Forsblom C, Holthöfer H, Groop P-H, |
| 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 |
| The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2008 Dec 23 (12): 2201-7. Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Ju |
| NPHS2 variation in focal and segmental glomerulosclerosis. BMC nephrology 2008 9 (1): 13. Tonna Stephen J, Needham Alexander, Polu Krishna, Uscinski Andrea, Appel Gerald B, Falk Ronald J, Katz Avi, Al-Waheeb Salah, Kaplan Bernard S, Jerums George, Savige Judy, Harmon Jennifer, Zhang Kang, Curhan Gary C, Pollak Martin |
| NPHS2 mutations in children with steroid-resistant nephrotic syndrome. Iranian journal of kidney diseases 2009 Apr 3 (2): 99-102. Otukesh Hasan, Ghazanfari Behzad, Fereshtehnejad Seyed-Mohammad, Bakhshayesh Masoomeh, Hashemi Mehrdad, Hoseini Rozita, Chalian Majid, Salami Arezoo, Mehdipor Leila, Rahiminia Ays |
| Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy. Nephrology (Carlton, Vic.) 2009 Dec 14 (8): 728-34. Zhu Li, Yu Lei, Wang Chen-Dan, Lv Ji-Cheng, Li Gui-Sen, Zhang Hong, Wang Hai-Y |
| [The correlation between NPHS2 polymorphism and IgA nephropathy in northern Chinese patients]. Zhonghua nei ke za zhi [Chinese journal of internal medicine] 2011 Oct 50 (10): 10. Yu L, Lü JC, Li GS, Zhang H |
| NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 2013 May 28 (5): 751-7. Kerti Andrea, Csohány Rózsa, Szabó Attila, Arkossy Ottó, Sallay Péter, Moriniére Vincent, Vega-Warner Virginia, Nyír? Gábor, Lakatos Orsolya, Szabó Tamás, Lipska Beata S, Schaefer Franz, Antignac Corinne, Reusz George, Tulassay Tivadar, Tory Kálm |
| Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatric nephrology (Berlin, Germany) 2012 Apr 27 (4): 675-9. Voskarides Konstantinos, Arsali Maria, Athanasiou Yiannis, Elia Avraam, Pierides Alkis, Deltas Constantin |
| NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. Iranian journal of kidney diseases 2013 Sep 7 (5): 357-62. Basiratnia Mitra, Yavarian Majid, Torabinezhad Simin, Erjaee As |
| The podocin mutation R229Q and early recurrence (within the first year) of glomerular disease after renal transplantation. Annals of transplantation : quarterly of the Polish Transplantation Society 2013 18 436-42. Mohey Hesham, Thibaudin Lise, Laurent Blandine, Berthoux Franco |
| 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 |
| 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, |
| 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 |
| Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. BMC nephrology 2018 12 19 (1): 382. Li Guo-Min, Cao Qi, Shen Qian, Sun Li, Zhai Yi-Hui, Liu Hai-Mei, An Yu, Xu Ho |
| Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait. Case reports in genetics 2018 12 2018 6898546. Sambuughin Nyamkhishig, Ren Mingqiang, Capacchione John F, Mungunsukh Ognoon, Chuang Kevin, Horkayne-Szakaly Iren, O'Connor Francis G, Deuster Patricia |
| NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis. Bratislavske lekarske listy 2019 2 120 (2): 102-105. Baylarov R, Baylarova R, Berdeli A, Bayramov R, Haziyev |
| Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis. Clinical nephrology 2020 Jul . de Almeida Rafael, da Silva William Cardoso, Garbin Henrique Iahnke, Itaquy Thiago Pereira, Dos Santos Pereira Fernanda, Garcia Clotilde Druck, Keitel Elizete, Sales Luiz Vianna Fernanda, Veronese Francisco Veríssi |
| Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. Journal of clinical medicine 2020 7 9 (6): . Park Eujin, Lee Chung, Kim Nayoung K D, Ahn Yo Han, Park Young Seo, Lee Joo Hoon, Kim Seong Heon, Cho Min Hyun, Cho Heeyeon, Yoo Kee Hwan, Shin Jae Il, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
| NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2020 3 31 (1): 144-149. Baylarov Rauf, Senol Ozgur, Atan Merve, Berdeli Af |
| Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
| The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood. Frontiers in medicine 2024 1 10 1320054. Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudí?ková, Karel Krej?í, Jana Reiterová, Eva Jan?ová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horá?ková, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Mac |
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