Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Proteinuria and COL4A5[original query] |
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| Phenotypic and genotypic features of Alport syndrome in Chinese children. Pediatric nephrology (Berlin, Germany) 2002 Dec 17 (12): 1013-20. Wang Fang, Ding Jie, Guo Shunhua, Yang Jiy |
| Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PloS one 2013 8 (3): e57925. Voskarides Konstantinos, Demosthenous Panayiota, Papazachariou Louiza, Arsali Maria, Athanasiou Yiannis, Zavros Michalis, Stylianou Kostas, Xydakis Dimitris, Daphnis Eugenios, Gale Daniel P, Maxwell Patrick H, Elia Avraam, Pattaro Cristian, Pierides Alkis, Deltas Constantin |
| Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2016 Jan . Weber Stefanie, Strasser Katja, Rath Sabine, Kittke Achim, Beicht Sonja, Alberer Martin, Lange-Sperandio Bärbel, Hoyer Peter F, Benz Marcus R, Ponsel Sabine, Weber Lutz T, Klein Hanns-Georg, Hoefele Jul |
| [Clinical and genetic features of X-linked Alport syndrome in men positive for the collagen ? a5 chain in epidermal basement membrane]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2016 Jan 54 (1): 61-4. Zhang Y Q, Ding J, Wang F, Zhang H W, Xiao H J, Yao Y, Zhong X H, Guan N, Liu X Y, Yu L X, Liu J C, Yang J |
| [Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
| Novel mutations in patients with X-linked Alport syndrome: Two case reports. Medicine 2019 5 98 (20): e15660. Oh Songhee, Kim Jieun, Kim Hyoungnae, Jeon Jin Seok, Noh Hyunjin, Han Dong Cheol, Jin So-Young, Kwon Soon H |
| X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases. Frontiers in medicine 2020 12 7 580376. Mastrangelo Antonio, Giani Marisa, Groppali Elena, Castorina Pierangela, Soldà Giulia, Robusto Michela, Fallerini Chiara, Bruttini Mirella, Renieri Alessandra, Montini Giovan |
| A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome. Kidney international reports 2022 12 7 (11): 2454-2461. Gibson Joel T, de Gooyer Mikayla, Huang Mary, Savige Ju |
| Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age. Frontiers in medicine 2022 11 9 953643. Günthner Roman, Knipping Lea, Jeruschke Stefanie, Satanoskij Robin, Lorenz-Depiereux Bettina, Hemmer Clara, Braunisch Matthias C, Riedhammer Korbinian M, ?omi? Jasmina, Tönshoff Burkhard, Tasic Velibor, Abazi-Emini Nora, Nushi-Stavileci Valbona, Buiting Karin, Gjorgjievski Nikola, Momirovska Ana, Patzer Ludwig, Kirschstein Martin, Gross Oliver, Lungu Adrian, Weber Stefanie, Renders Lutz, Heemann Uwe, Meitinger Thomas, Büscher Anja K, Hoefele Jul |
| [Genetic analysis of a patient with Alport syndrome due to compound heterozygous variants of COL4A4 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1150-1154. Bingbing Yang, Fengxun Liu, Lanlan Zou, Xiaoling Xue, Jinhong Mi |
| Genetic features and kidney morphological changes in women with X-linked Alport syndrome. Journal of medical genetics 2023 5 . Hongling Di, Qing Wang, Dandan Liang, Jiahui Zhang, Erzhi Gao, Chunxia Zheng, Xiaomin Yu, Zhihong L |
| Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants. medRxiv : the preprint server for health sciences 2024 6 . McKenzie Zellers, Kaushal Solanki, Kyle Retterer, Karyn M Murphy, Melissa A Kelly, H Les Kirchner, Ion Dan Bucaloiu, Tooraj Mirshahi, Bryn Moore, Alexander R Cha |
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