Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 35 Records) |
| Query Trace: Syndrome and COL4A3[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 |
| 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 |
| Steroid Pathway Genes and Neonatal Respiratory Distress After Betamethasone Use in Anticipated Preterm Birth. Reproductive sciences (Thousand Oaks, Calif.) 2015 Oct . Haas David M, Lai Dongbing, Sharma Sunita, Then Jenny, Kho Alvin, Flockhart David A, Tantisira Kelan, Foroud Tatia |
| COL4A3 mutations cause focal segmental glomerulosclerosis. Journal of molecular cell biology 2014 Dec 6 (6): 498-505. Xie Jingyuan, Wu Xiaoxi, Ren Hong, Wang Weiming, Wang Zhaohui, Pan Xiaoxia, Hao Xu, Tong Jun, Ma Jun, Ye Zhibin, Meng Guoyu, Zhu Yufei, Kiryluk Krzysztof, Kong Xiangyin, Hu Landian, Chen N |
| 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 |
| 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 |
| Genotype and Outcome After Kidney Transplantation in Alport Syndrome. Kidney international reports 2018 6 3 (3): 652-660. Gillion Valentine, Dahan Karin, Cosyns Jean-Pierre, Hilbert Pascale, Jadoul Michel, Goffin Eric, Godefroid Nathalie, De Meyer Martine, Mourad Michel, Pirson Yves, Kanaan Na |
| Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population. Frontiers in pediatrics 2018 11 6 307. Varner Jennifer D, Chryst-Stangl Megan, Esezobor Christopher Imokhuede, Solarin Adaobi, Wu Guanghong, Lane Brandon, Hall Gentzon, Abeyagunawardena Asiri, Matory Ayo, Hunley Tracy E, Lin Jen Jar, Howell David, Gbadegesin Rashe |
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.
Journal of the American Society of Nephrology : JASN 2019 Sep . Salem Rany M, Todd Jennifer N, Sandholm Niina, Cole Joanne B, Chen Wei-Min, Andrews Darrell, Pezzolesi Marcus G, McKeigue Paul M, Hiraki Linda T, Qiu Chengxiang, Nair Viji, Di Liao Chen, Cao Jing Jing, Valo Erkka, Onengut-Gumuscu Suna, Smiles Adam M, McGurnaghan Stuart J, Haukka Jani K, Harjutsalo Valma, Brennan Eoin P, van Zuydam Natalie, Ahlqvist Emma, Doyle Ross, Ahluwalia Tarunveer S, Lajer Maria, Hughes Maria F, Park Jihwan, Skupien Jan, Spiliopoulou Athina, Liu Andrew, Menon Rajasree, Boustany-Kari Carine M, Kang Hyun M, Nelson Robert G, Klein Ronald, Klein Barbara E, Lee Kristine E, Gao Xiaoyu, Mauer Michael, Maestroni Silvia, Caramori Maria Luiza, de Boer Ian H, Miller Rachel G, Guo Jingchuan, Boright Andrew P, Tregouet David, Gyorgy Beata, Snell-Bergeon Janet K, Maahs David M, Bull Shelley B, Canty Angelo J, Palmer Colin N A, Stechemesser Lars, Paulweber Bernhard, Weitgasser Raimund, Sokolovska Jelizaveta, Rov?te Vita, P?r?gs Valdis, Prakapiene Edita, Radzeviciene Lina, Verkauskiene Rasa, Panduru Nicolae Mircea, Groop Leif C, McCarthy Mark I, Gu Harvest F, Möllsten Anna, Falhammar Henrik, Brismar Kerstin, Martin Finian, Rossing Peter, Costacou Tina, Zerbini Gianpaolo, Marre Michel, Hadjadj Samy, McKnight Amy J, Forsblom Carol, McKay Gareth, Godson Catherine, Maxwell A Peter, Kretzler Matthias, Susztak Katalin, Colhoun Helen M, Krolewski Andrzej, Paterson Andrew D, Groop Per-Henrik, Rich Stephen S, Hirschhorn Joel N, Florez Jose C, |
| 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 |
| 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 |
| 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 |
| 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 |
| mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing. Scientific reports 2021 9 11 (1): 18097. Wang Xiaoyuan, Zhang Yanqin, Ding Jie, Wang Fa |
| Quantitative Optical Coherence Tomography Angiography Biomarkers for Alport Syndrome. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2021 9 245 (1): 41-48. Cunha Ana Maria, Teixeira Daniela, Cabral Diogo, Estrela-Silva Sérgio, Falcão-Reis Fernando, Carneiro Ânge |
| Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome. Pediatric nephrology (Berlin, Germany) 2021 3 36 (9): 2719-2730. Zhang Yanqin, Böckhaus Jan, Wang Fang, Wang Suxia, Rubel Diana, Gross Oliver, Ding J |
| The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience. Frontiers in medicine 2022 9 9 957733. ?omi? Jasmina, Riedhammer Korbinian M, Günthner Roman, Schaaf Christian W, Richthammer Patrick, Simmendinger Hannes, Kieffer Donald, Berutti Riccardo, Tasic Velibor, Abazi-Emini Nora, Nushi-Stavileci Valbona, Putnik Jovana, Stajic Nataša, Lungu Adrian, Gross Oliver, Renders Lutz, Heemann Uwe, Braunisch Matthias C, Meitinger Thomas, Hoefele Jul |
| Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome. Kidney360 2022 4 1 (9): 936-942. Horinouchi Tomoko, Yamamura Tomohiko, Nagano China, Sakakibara Nana, Ishiko Shinya, Aoto Yuya, Rossanti Rini, Nakanishi Koichi, Shima Yuko, Morisada Naoya, Iijima Kazumoto, Nozu Kand |
| GWAS of Hematuria. Clinical journal of the American Society of Nephrology : CJASN 2022 4 17 (5): 672-683. Gagliano Taliun Sarah A, Sulem Patrick, Sveinbjornsson Gardar, Gudbjartsson Daniel F, Stefansson Kari, Paterson Andrew D, Barua Moumi |
| 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 |
| [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 |
| 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 |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
| 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 |
| 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-Phenotype Correlations in Alport Syndrome-A Single-Center Experience. Genes 2024 5 15 (5): . ?tefan Nicolaie Lujinschi, Bogdan Marian Sorohan, Bogdan Obri?c?, Alexandra Vrabie, Gabriela Lupu?oru, Camelia Achim, Andreea Gabriella Andronesi, Andreea Covic, Gener Isma |
| 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 |
| Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2025 1 . Marie-Sophie Pagniez, Victor Fages, Clémence Gatinois, Romain Larrue, Nicolas Pottier, Timothée Laboux, Rémi Lenain, Olivier Grunewald, Thomas Robert, Claire Rigothier, Laurent Mesnard, François Glowac |
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