Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and COL4A5[original query] |
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| The use of frailty models in genetic studies: application to the relationship between end-stage renal failure and mutation type in Alport syndrome. European Community Alport Syndrome Concerted Action Group (ECASCA). Journal of epidemiology and biostatistics 2000 5 (3): 169-75. Albert I, Jais J |
| 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 |
| 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 |
| Improving mutation screening in familial hematuric nephropathies through next generation sequencing. Journal of the American Society of Nephrology : JASN 2014 Dec 25 (12): 2740-51. Morinière Vincent, Dahan Karin, Hilbert Pascale, Lison Marieline, Lebbah Said, Topa Alexandra, Bole-Feysot Christine, Pruvost Solenn, Nitschke Patrick, Plaisier Emmanuelle, Knebelmann Bertrand, Macher Marie-Alice, Noel Laure-Hélène, Gubler Marie-Claire, Antignac Corinne, Heidet Lauren |
| Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015 Sep . Gast Christine, Pengelly Reuben J, Lyon Matthew, Bunyan David J, Seaby Eleanor G, Graham Nikki, Venkat-Raman Gopalakrishnan, Ennis Sar |
| 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 |
| Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia: Case report and literature review. Medicine 2018 7 97 (30): e11538. Wang Xiaojuan, Li Wei, Wei Ke, Xiao Rui, Wang Juntao, Ma Haichang, Qin Lingzhi, Shao Wenjun, Li Chunya |
| Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome. Molecular genetics & genomic medicine 2019 8 7 (9): e883. Yamamura Tomohiko, Nozu Kandai, Minamikawa Shogo, Horinouchi Tomoko, Sakakibara Nana, Nagano China, Aoto Yuya, Ishiko Shinya, Nakanishi Koichi, Shima Yuko, Nagase Hiroaki, Rossanti Rini, Ye Ming J, Nozu Yoshimi, Ishimori Shingo, Morisada Naoya, Kaito Hiroshi, Iijima Kazumo |
| Exome-Based Rare-Variant Analyses in CKD. Journal of the American Society of Nephrology : JASN 2019 May . Cameron-Christie Sophia, Wolock Charles J, Groopman Emily, Petrovski Slavé, Kamalakaran Sitharthan, Povysil Gundula, Vitsios Dimitrios, Zhang Mengqi, Fleckner Jan, March Ruth E, Gelfman Sahar, Marasa Maddalena, Li Yifu, Sanna-Cherchi Simone, Kiryluk Krzysztof, Allen Andrew S, Fellström Bengt C, Haefliger Carolina, Platt Adam, Goldstein David B, Gharavi Ali |
| An Exome Sequencing Study of 10 Families with IgA Nephropathy. Nephron 2019 Dec 1-12. Stapleton Caragh P, Kennedy Claire, Fennelly Neil K, Murray Susan L, Connaughton Dervla M, Dorman Anthony M, Doyle Brendan, Cavalleri Gianpiero L, Conlon Peter |
| Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study. Molecular genetics & genomic medicine 2020 12 9 (2): e1576. Uliana Vera, Sebastio Paola, Riva Matteo, Carli Diana, Ruberto Claudio, Bianchi Laura, Graziano Claudio, Capelli Irene, Faletra Flavio, Pillon Roberto, Mattina Teresa, Sensi Alberto, Bonatti Francesco, Percesepe Anton |
| Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial. Clinical genetics 2020 10 99 (1): 143-156. Boeckhaus Jan, Hoefele Julia, Riedhammer Korbinian M, Tönshoff Burkhard, Ehren Rasmus, Pape Lars, Latta Kay, Fehrenbach Henry, Lange-Sperandio Baerbel, Kettwig Matthias, Hoyer Peter, Staude Hagen, Konrad Martin, John Ulrike, Gellermann Jutta, Hoppe Bernd, Galiano Matthias, Gessner Michaela, Pohl Michael, Bergmann Carsten, Friede Tim, Gross Oliver, |
| Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients. American journal of ophthalmology 2021 Nov . Chen Tian-Hui, Chen Ze-Xu, Zhang Min, Chen Jia-Hui, Deng Michael, Zheng Jia-Lei, Lan Li-Na, Jiang Yong-Xia |
| 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 Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. Journal of the American Society of Nephrology : JASN 2022 9 34 (1): 132-144. Yuan Xiaohan, Su Qing, Wang Hui, Shi Sufang, Liu Lijun, Lv Jicheng, Wang Suxia, Zhu Li, Zhang Ho |
| 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 |
| 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 |
| Dissecting the genotype-phenotype correlation of COL4A5 gene mutation and its response to renin-angiotensin-aldosterone system blockers in Chinese male patients with Alport syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022 1 37 (12): 2487-2495. Di Hongling, Zhang Jiahui, Gao Erzhi, Zheng Chunxia, Huang Xianghua, Wang Qing, Yu Xiaomin, Liu Zhiho |
| Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing. Kidney international reports 2022 1 7 (1): 108-116. Aoto Yuya, Horinouchi Tomoko, Yamamura Tomohiko, Kondo Atsushi, Nagai Sadayuki, Ishiko Shinya, Okada Eri, Rossanti Rini, Sakakibara Nana, Nagano China, Awano Hiroyuki, Nagase Hiroaki, Shima Yuko, Nakanishi Koichi, Matsuo Masafumi, Iijima Kazumoto, Nozu Kand |
| A wave of deep intronic mutations in X-linked Alport Syndrome. Kidney international 2023 5 . Marie Boisson, Christelle Arrondel, Nicolas Cagnard, Vincent Morinière, Zaïna Aït Arkoub, Hassan Saei, Laurence Heidet, Jessica Kachmar, Aurélie Hummel, Bertrand Knebelmann, Marie-Noëlle Bonnet-Dupeyron, Bertrand Isidor, Hassane Izzedine, Eric Legrand, Philippe Couarch, Olivier Gribouval, Christine Bole-Feysot, Mélanie Parisot, Patrick Nitschké, Corinne Antignac, Guillaume Dorv |
| Polygenic risk affects the penetrance of monogenic kidney disease. medRxiv : the preprint server for health sciences 2023 5 . Atlas Khan, Ning Shang, Jordan G Nestor, Chunhua Weng, George Hripcsak, Peter C Harris, Ali G Gharavi, Krzysztof Kiryl |
| Clinical, histological and molecular characteristics of Alport syndrome in Chinese children. Journal of nephrology 2023 4 . Lanqi Zhou, Bijun Xi, Yongli Xu, Yanxinli Han, Yuan Yang, Jing Yang, Yi Wang, Liru Qiu, Yu Zhang, Jianhua Zh |
| Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population. Kidney international 2023 12 . Precil D Neves, Andreia Watanabe, Elieser H Watanabe, Amanda M Narcizo, Kelly Nunes, Antonio M Lerario, Frederico Moraes Ferreira, Lívia B Cavalcante, Janewit Wongboonsin, Denise M Malheiros, Lectícia B Jorge, Matthew G Sampsom, Irene L Noronha, Luiz F Onuch |
| 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 |
| Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants. Journal of the American Society of Nephrology : JASN 2024 12 . McKenzie Zellers, Kaushal Solanki, Melissa A Kelly, Karyn M Murphy, Kyle Retterer, H Les Kirchner, Ion Dan Bucaloiu, Bryn Moore, Tooraj Mirshahi, Alexander R Cha |
| Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2024 12 . Marie-Sophie Pagniez, Yannis Lombardi, Victor Fages, Romain Larrue, Timothée Laboux, Clémence Gatinois, Emmanuel Letavernier, Claire Rigothier, François Glowacki, Laurent Mesnard, Thomas Robe |
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