Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 42 Records) |
| Query Trace: Nephrotic Syndrome and NPHS1[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 |
| 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 |
| 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, |
| 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 |
| 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 |
| 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 |
| 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 |
| Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical journal of the American Society of Nephrology : CJASN 2017 11 13 (1): 53-62. Warejko Jillian K, Tan Weizhen, Daga Ankana, Schapiro David, Lawson Jennifer A, Shril Shirlee, Lovric Svjetlana, Ashraf Shazia, Rao Jia, Hermle Tobias, Jobst-Schwan Tilman, Widmeier Eugen, Majmundar Amar J, Schneider Ronen, Gee Heon Yung, Schmidt J Magdalena, Vivante Asaf, van der Ven Amelie T, Ityel Hadas, Chen Jing, Sadowski Carolin E, Kohl Stefan, Pabst Werner L, Nakayama Makiko, Somers Michael J G, Rodig Nancy M, Daouk Ghaleb, Baum Michelle, Stein Deborah R, Ferguson Michael A, Traum Avram Z, Soliman Neveen A, Kari Jameela A, El Desoky Sherif, Fathy Hanan, Zenker Martin, Bakkaloglu Sevcan A, Müller Dominik, Noyan Aytul, Ozaltin Fatih, Cadnapaphornchai Melissa A, Hashmi Seema, Hopcian Jeffrey, Kopp Jeffrey B, Benador Nadine, Bockenhauer Detlef, Bogdanovic Radovan, Staji? Nataša, Chernin Gil, Ettenger Robert, Fehrenbach Henry, Kemper Markus, Munarriz Reyner Loza, Podracka Ludmila, Büscher Rainer, Serdaroglu Erkin, Tasic Velibor, Mane Shrikant, Lifton Richard P, Braun Daniela A, 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 |
| 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 |
| 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 |
| A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis. BMC medical genetics 2019 Jun 20 (1): 111. Zhuo Ling, Huang Lulin, Yang Zhenglin, Li Guisen, Wang |
| 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 |
| 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, |
| 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 |
| Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Molecular genetics and genomics : MGG 2022 3 297 (3): 689-698. Thomas Manal M, Ahmed Heba Mostafa, El-Dessouky Sara H, Ramadan Abeer, Botrous Osama Ezzat, Abdel-Hamid Mohamed |
| 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 |
| Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
| 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 |
- Page last reviewed:Feb 1, 2024
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