Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Hearing and COL4A5[original query] |
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Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002 Jul 17 (7): 1218-27. Gross Oliver, Netzer Kai-Olaf, Lambrecht Romy, Seibold Stefan, Weber Manfr |
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 |
The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms. The British journal of ophthalmology 2009 Mar 93 (3): 379-82. Liu J, Colville D, Wang Y Y, Baird P N, Guymer R H, Savige |
Genotype-phenotype correlation in X-linked Alport syndrome. Journal of the American Society of Nephrology : JASN 2010 Apr . Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW |
[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 |
Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2020 4 31 (4): 264-269. Eroz Recep, Damar ?brahim H, K?l?çaslan Ond |
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 |
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Scientific reports 2021 11 11 (1): 22488. Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Danie |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
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 |
[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 |
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- Page last updated:Apr 22, 2024
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