Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 47 Records) |
| Query Trace: Nephrotic Syndrome and WT1[original query] |
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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 |
| Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. Clinical journal of the American Society of Nephrology : CJASN 2015 May 10 (5): 825-31. Lehnhardt Anja, Karnatz Claartje, Ahlenstiel-Grunow Thurid, Benz Kerstin, Benz Marcus R, Budde Klemens, Büscher Anja K, Fehr Thomas, Feldkötter Markus, Graf Norbert, Höcker Britta, Jungraithmayr Therese, Klaus Günter, Koehler Birgit, Konrad Martin, Kranz Birgitta, Montoya Carmen R, Müller Dominik, Neuhaus Thomas J, Oh Jun, Pape Lars, Pohl Martin, Royer-Pokora Brigitte, Querfeld Uwe, Schneppenheim Reinhard, Staude Hagen, Spartà Giuseppina, Timmermann Kirsten, Wilkening Frauke, Wygoda Simone, Bergmann Carsten, Kemper Markus |
| 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 |
| 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, |
| Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome. Genetics and molecular research : GMR 2016 15 (1): . Yang Y, Zhao F, Tu X, Yu |
| 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 WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting. BMC medical genetics 2017 1 18 (1): 3. Siji Annes, Pardeshi Varsha Chhotusing, Ravindran Shilpa, Vasudevan Ambily, Vasudevan An |
| 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 |
| 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 |
| 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 |
| Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population. Frontiers in pediatrics 2018 11 6 307. Varner Jennifer D, Chryst-Stangl Megan, Esezobor Christopher Imokhuede, Solarin Adaobi, Wu Guanghong, Lane Brandon, Hall Gentzon, Abeyagunawardena Asiri, Matory Ayo, Hunley Tracy E, Lin Jen Jar, Howell David, Gbadegesin Rashe |
| 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 |
| Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. Clinical and experimental nephrology 2019 4 23 (8): 1058-1065. Nishi Kentaro, Inoguchi Tomohiro, Kamei Koichi, Hamada Riku, Hataya Hiroshi, Ogura Masao, Sato Mai, Yoshioka Takako, Ogata Kentaro, Ito Shuichi, Nakanishi Koichi, Nozu Kandai, Hamasaki Yuko, Ishikura Ken |
| Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. Pediatric research 2019 Feb . Li Jianguo, Wang Lijun, Wan Ling, Lin Tiantian, Zhao Wentao, Cui Hang, Li Huarong, Cao Li, Wu Jianxin, Zhang Ti |
| Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort. European journal of medical genetics 2020 9 63 (11): 104047. Sun Shuzhen, Xu Linan, Bi Yunli, Wang Jing, Zhang Zhiqing, Tang Xiaoshan, Cao Qi, Zhai Yihui, Chen Jing, Fang Xiaoyan, Liu Jialu, Fang Ye, Xiang Tianchao, Qian Yanyan, Wu Bingbing, Wang Huijun, Zhou Wenhao, Shen Jian, Dong Kuiran, Liu Xiaorong, Zheng Bixia, Zhang Aihua, Wang Xiaowen, Wu Yubing, Ma Duan, Shen Qian, Rao Jia, Xu Ho |
| 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 |
| Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review. Pediatric nephrology (Berlin, Germany) 2020 7 36 (6): 1353-1364. Malakasioti Georgia, Iancu Daniela, Tullus Kje |
| Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome. Molecular biology reports 2021 Sep . Thakor Jinal M, Parmar Glory, Mistry Kinnari N, Gang Sishir, Rank Dharamshibhai N, Joshi Chaitanya |
| Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants. Kidney international reports 2021 8 6 (8): 2114-2121. Nagano China, Takaoka Yutaka, Kamei Koichi, Hamada Riku, Ichikawa Daisuke, Tanaka Kazuki, Aoto Yuya, Ishiko Shinya, Rossanti Rini, Sakakibara Nana, Okada Eri, Horinouchi Tomoko, Yamamura Tomohiko, Tsuji Yurika, Noguchi Yuko, Ishimori Shingo, Nagase Hiroaki, Ninchoji Takeshi, Iijima Kazumoto, Nozu Kand |
| A novel WT1 gene mutation in a chinese girl with denys-drash syndrome. Journal of clinical laboratory analysis 2021 5 35 (5): e23769. Wang Faliang, Cai Jiabin, Wang Jinhu, He Min, Mao Junqing, Zhu Kun, Zhao Manli, Guan Zhonghai, Li Linjie, Jin Hongchuan, Shu Qia |
| Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa. European journal of pediatrics 2022 Oct 181 (10): 3595-3606. Nandlal Louansha, Winkler Cheryl A, Bhimma Rajendra, Cho Sungkweon, Nelson George W, Haripershad Sudesh, Naicker Thajasvar |
| 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 |
| The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2022 2 32 (3): 798-805. Almokali Khamisa, Alyami Ali, Ajeebi Abdulaziz, Almutairi Turki, Aldriwesh Mar |
| Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children. Frontiers in pediatrics 2023 8 11 1192021. Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Li |
| 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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