Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 67 Records) |
| Query Trace: Disease and NPHS2[original query] |
|---|
| [Mutational analysis of MYO1E in children with sporadic steroid-resistant nephrotic syndrome in Chinese Han ethnic group]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2014 Jul 52 (7): 488-93. Zhao Feng, Yu Zihua, Yang Yonghui, Nie Xiaojing, Huang Jun, Wang Chengfeng, Xia Guizhi, Chen Guangmi |
| The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. International urology and nephrology 2014 Jul 46 (7): 1383-93. Lu Lu, Wan Heng, Yin Yi, Feng Wen-Jun, Wang Ming, Zou Yu-Cong, Huang Bo, Wang Dong-Tao, Shi Yin, Zhao Yan, Wei Lian- |
| 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 |
| A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. Journal of the American Society of Nephrology : JASN 2015 Jun 26 (6): 1279-89. Sadowski Carolin E, Lovric Svjetlana, Ashraf Shazia, Pabst Werner L, Gee Heon Yung, Kohl Stefan, Engelmann Susanne, Vega-Warner Virginia, Fang Humphrey, Halbritter Jan, Somers Michael J, Tan Weizhen, Shril Shirlee, Fessi Inès, Lifton Richard P, Bockenhauer Detlef, El-Desoky Sherif, Kari Jameela A, Zenker Martin, Kemper Markus J, Mueller Dominik, Fathy Hanan M, Soliman Neveen A, , Hildebrandt Friedhe |
| 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, |
| Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. Clinical and experimental nephrology 2016 Jan . Dhandapani Mohanapriya Chinambedu, Venkatesan Vettriselvi, Rengaswamy Nammalwar Bollam, Gowrishankar Kalpana, Ekambaram Sudha, Sengutavan Prabha, Perumal Venkatachal |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome. Journal of genetics 2020 6 99 . Chamgordani Leila Esmaeli, Ebrahimi Nasim, Amirmahani Farzane, Vallian Sad |
| 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 |
| NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. Bioscience reports 2020 12 41 (1): . Sun Liping, Zhang Xinzhou, Wang Zh |
| Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. Open access Macedonian journal of medical sciences 2019 Oct 7 (19): 3145-3148. Zaki Moushira, El-Shaer Shreen, Rady Sahar, El-Salam Manal Abd, Abd-El-Salam Ragaa, Alkashlan Ibrahim Abdelfattah, Saber Mohamed, Mohamed Sanaa, Hassaan Mohamed, Rabie Eman, Amr Khal |
| 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 |
| 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, |
| 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 |
| Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome. Frontiers in medicine 2022 8 9 937122. Zhou Qiongxiu, Weng Qinjie, Zhang Xiaoyan, Liu Yunzi, Tong Jun, Hao Xu, Shi Hao, Shen Pingyan, Ren Hong, Xie Jingyuan, Chen N |
| 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 |
| Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet journal of rare diseases 2024 5 19 (1): 216. Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas, Nelson Leung, Marie C Hogan, Megan M Hager, Kayla J Kolbert, Jennifer L Kemppainen, Elle C Loftus, Katie M Leitzen, Carolyn R Vitek, Tammy McAllister, Konstantinos N Lazaridis, Filippo Pinto E Vai |
| Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence. Kidney international reports 2024 5 9 (4): 973-981. Jessica Kachmar, Olivia Boyer, Beata Lipska-Zi?tkiewicz, Vincent Morinière, Olivier Gribouval, Laurence Heidet, Irena Balasz-Chmielewska, Elisa Benetti, Sylvie Cloarec, Dagmar Csaicsich, Stéphane Decramer, Jutta Gellermann, Vincent Guigonis, Julien Hogan, Aysun Karabay Bayazit, Anette Melk, Nazym Nigmatullina, Jun Oh, Fatih Ozaltin, Bruno Ranchin, Michel Tsimaratos, Agnes Trautmann, Corinne Antignac, Franz Schaefer, Guillaume Dorval, |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: