Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Nephrotic Syndrome and PLCE1[original query] |
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| Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS. Pediatric nephrology (Berlin, Germany) 2009 Feb 24 (2): 281-5. Gbadegesin Rasheed, Bartkowiak Bartlomiej, Lavin Peter J, Mukerji Nirvan, Wu Guanghong, Bowling Brandy, Eckel Jason, Damodaran Tirupapuliyur, Winn Michelle |
| 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 |
| Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clinical journal of the American Society of Nephrology : CJASN 2011 May 6 (5): 1139-48. Santín Sheila, Bullich Gemma, Tazón-Vega Bárbara, García-Maset Rafael, Giménez Isabel, Silva Irene, Ruíz Patricia, Ballarín José, Torra Roser, Ars Elisab |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatric nephrology (Berlin, Germany) 2023 9 . Dalia Pantel, Nils D Mertens, Ronen Schneider, Selina Hölzel, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Tze Y Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebran |
| Association of PLCE1 (rs7922612) and COL4A3 (rs375290088) Genetic Variants with the Risk of Nephrotic Syndrome in Egyptian Pediatric Patients. Biochemical genetics 2024 7 . Wafaa A Mokhtar, Afaf M Elsaid, Ahmed M Elrefaey, Marwan Mahmood Saleh, Magdy M Youss |
| 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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