Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and NPHS1[original query] |
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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, |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
| NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. Nephrology (Carlton, Vic.) 2015 Nov . Guaragna Mara S, Cleto Thaís Lira, Souza Marcela Lopes, Lutaif Anna Cristina G B, de Castro Luiz Cláudio Gonçalves, Penido Maria Goretti Moreira Guimarães, Maciel-Guerra Andréa T, Belangero Vera M S, Guerra-Junior Gil, De Mello Maricilda |
| 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 |
| 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 |
| Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney international 2017 1 91 (4): 937-947. Bierzynska Agnieszka, McCarthy Hugh J, Soderquest Katrina, Sen Ethan S, Colby Elizabeth, Ding Wen Y, Nabhan Marwa M, Kerecuk Larissa, Hegde Shivram, Hughes David, Marks Stephen, Feather Sally, Jones Caroline, Webb Nicholas J A, Ognjanovic Milos, Christian Martin, Gilbert Rodney D, Sinha Manish D, Lord Graham M, Simpson Michael, Koziell Ania B, Welsh Gavin I, Saleem Moin |
| Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome. Journal of cellular biochemistry 2018 Sep . Mohanapriya Chinambedu Dhandapani, Vettriselvi Venkatesan, Nammalwar Bollam Rengaswamy, Gowrishankar Kalpana, Ekambaram Sudha, Sengutavan Prabha, Venkatachalam Perum |
| Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. Frontiers in genetics 2018 9 214. Abid Aiysha, Shahid Saba, Shakoor Madiha, Lanewala Ali A, Hashmi Seema, Khaliq Shaguf |
| Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome. Molecular genetics & genomic medicine 2019 8 7 (9): e883. Yamamura Tomohiko, Nozu Kandai, Minamikawa Shogo, Horinouchi Tomoko, Sakakibara Nana, Nagano China, Aoto Yuya, Ishiko Shinya, Nakanishi Koichi, Shima Yuko, Nagase Hiroaki, Rossanti Rini, Ye Ming J, Nozu Yoshimi, Ishimori Shingo, Morisada Naoya, Kaito Hiroshi, Iijima Kazumo |
| A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. Annals of clinical and laboratory science 2019 7 49 (3): 330-337. Li Yongzhen, He Qingnan, Wang Ying, Dang Xiqiang, Wu Xiaochuan, Li Xiaoyan, Shuai Lanjun, Yi Zhuw |
| Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation. Iranian journal of kidney diseases 2019 6 13 (3): 165-172. Shojaei Azadeh, Serajpour Niloofar, Karimi Behnaz, Hooman Nakysa, Hosseini Rozita, Khosravi Pedr |
| 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 |
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Kidney international 2020 11 98 (5): 1308-1322. Jia Xiaoyuan, Yamamura Tomohiko, Gbadegesin Rasheed, McNulty Michelle T, Song Kyuyong, Nagano China, Hitomi Yuki, Lee Dongwon, Aiba Yoshihiro, Khor Seik-Soon, Ueno Kazuko, Kawai Yosuke, Nagasaki Masao, Noiri Eisei, Horinouchi Tomoko, Kaito Hiroshi, Hamada Riku, Okamoto Takayuki, Kamei Koichi, Kaku Yoshitsugu, Fujimaru Rika, Tanaka Ryojiro, Shima Yuko, , Baek Jiwon, Kang Hee Gyung, Ha Il-Soo, Han Kyoung Hee, Yang Eun Mi, , Abeyagunawardena Asiri, Lane Brandon, Chryst-Stangl Megan, Esezobor Christopher, Solarin Adaobi, , Dossier Claire, Deschênes Georges, , Vivarelli Marina, Debiec Hanna, Ishikura Kenji, Matsuo Masafumi, Nozu Kandai, Ronco Pierre, Cheong Hae Il, Sampson Matthew G, Tokunaga Katsushi, Iijima Kazumo |
| Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India. Indian pediatrics 2021 5 58 (5): 445-451. Joshi Aditi, Sinha Aditi, Sharma Aakanksha, Shamim Uzma, Uppilli Bharathram, Sharma Pooja, Zahra Sana, Parveen Shaista, Mathur Aradhana, Chandan Monica, Tewari Prachi, Khandelwal Priyanka, Hari Pankaj, Mukerji Mitali, Faruq Mohammed, Bagga Arvind, |
| Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study. Journal of pediatric genetics 2022 8 11 (3): 185-191. Singh Akanksha, Singh Ankur, Mishra Om Prakash, Prasad Rajniti, Narayan Gopeshwar, Batra Vineeta V, Tabatabaeifar Mansoureh, Schaefer Fra |
| The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study. Frontiers in medicine 2022 9 885178. Zhu Xiujuan, Zhang Yanqin, Yu Zihua, Yu Li, Huang Wenyan, Sun Shuzhen, Li Yingjie, Wang Mo, Li Yongzhen, Sun Liangzhong, Yang Qing, Deng Fang, Shao Xiaoshan, Liu Ling, Liu Cuihua, Qin Yuanhan, Feng Shipin, Zhu Hongtao, Yang Fang, Zheng Weimin, Zheng Wanqi, Zhong Rirong, Hou Ling, Mao Jianhua, Wang Fang, Ding J |
| Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic. Delaware journal of public health 2022 5 7 (5): 24-27. Kirwin Susan M, Robbins Katherine M, Vinette Kathleen M B, Hirata Lee, Gripp Karen W, Funanage Vicky |
| Case Report: A Pathogenic Missense Variant of WT1 Cosegregates With Proteinuria in a Six-Generation Chinese Family With IgA Nephropathy. Frontiers in medicine 2022 2 8 810940. Li Qianqian, Zhu Li, Shi Sufang, Xu Damin, Lv Jicheng, Zhang Ho |
| Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population. Kidney international reports 2024 12 9 (12): 3501-3516. Andreia Watanabe, Precil Diego Miranda de Menezes Neves, Kelly Nunes, Antonio Marcondes Lerario, Elieser Hitoshi Watanabe, Frederico Moraes Ferreira, Denise Maria Avancini Costa Malheiros, Amanda de Moraes Narcizo, Mara Sanches Guaragna, Stanley de Almeida Araujo, Thais Medeiros Cruz, Jussara Soares Fontes, Vera Maria Santoro Belangero, Maria Helena Vaisbich, Friedhelm Hildebrandt, Matthew Gordon Sampson, Luiz Fernando Onuch |
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