Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 32 Records) |
| Query Trace: Disease and COL4A4[original query] |
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| Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatric nephrology (Berlin, Germany) 2012 Apr 27 (4): 675-9. Voskarides Konstantinos, Arsali Maria, Athanasiou Yiannis, Elia Avraam, Pierides Alkis, Deltas Constantin |
| 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 |
| 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 |
| 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 |
| Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis. Arthritis & rheumatology (Hoboken, N.J.) 2016 Apr . Mak Angel Cy, Tang Paul Lf, Cleveland Clare, Smith Melanie H, Connolly M Kari, Katsumoto Tamiko R, Wolters Paul J, Kwok Pui-Yan, Criswell Lindsey |
| 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 |
| Genetic associations for keratoconus: a systematic review and meta-analysis. Scientific reports 2017 Jul 7 (1): 4620. Rong Shi Song, Ma Sarah Tsz Ue, Yu Xin Ting, Ma Li, Chu Wai Kit, Chan Tommy Chung Yan, Wang Yu Meng, Young Alvin L, Pang Chi Pui, Jhanji Vishal, Chen Li J |
| 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 |
| Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus in an Iranian Population. Journal of ophthalmic & vision research 0 15 (3): 299-307. Yari Davood, Ehsanbakhsh Zohreh, Validad Mohammad-Hosein, Langroudi Farzaneh Hasani |
| 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 |
| Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
| 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 |
| 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 |
| Analysis of the association of ANO3/MUC15, COL4A4, RRBP1, and KLK1 polymorphisms with COPD susceptibility in the Kashi population. BMC pulmonary medicine 2022 May 22 (1): 178. Tang Lifeng, Zhong Xuemei, Gong Hui, Tuerxun Maimaitiaili, Ma Tao, Ren Jie, Xie Chengxin, Zheng Aifang, Abudureheman Zulipikaer, Abudukadeer Ayiguzali, Aini Paierda, Yilamujiang Subinuer, Li |
| 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 |
| 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 |
| Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort. Saudi journal of biological sciences 2022 11 30 (1): 103503. Khashim Alswailmi Farhan, Bokhari Khansa, Aladaileh Saleem H, A Alanezi Abdulkareem, Azam Maleeha, Ahmad Ashf |
| Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy. Genes 2021 12 13 (1): . Kiraly Peter, Zupan Andrej, Matjaši? Alenka, Mekjavi? Polona Ja |
Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia.
Human molecular genetics 2022 1 31 (11): 1909-1919. Guggenheim Jeremy A, Clark Rosie, Cui Jiangtian, Terry Louise, Patasova Karina, Haarman Annechien E G, Musolf Anthony M, Verhoeven Virginie J M, Klaver Caroline C W, Bailey-Wilson Joan E, Hysi Pirro G, Williams Cathy, , |
| 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 |
| Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. Genes 2023 10 14 (10): . Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Ma |
| Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants. European journal of human genetics : EJHG 2024 9 . Gaby Schobers, Maartje Pennings, Juliette de Vries, Michael Kwint, Jeroen van Reeuwijk, Jordi Corominas Galbany, Ronald van Beek, Eveline Kamping, Raoul Timmermans, Erik-Jan Kamsteeg, Lonneke Haer-Wigman, Frans P M Cremers, Susanne Roosing, Christian Gilissen, Hannie Kremer, Han G Brunner, Helger G Yntema, Lisenka E L M Visse |
| The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease. Kidney international reports 2024 9 9 (9): 2695-2704. Laura R Claus, Robert F Ernst, Martin G Elferink, Hanneke W M van Deutekom, Bert van der Zwaag, Albertien M van Eer |
| Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States. Kidney international reports 2024 9 9 (9): 2667-2676. Ronaldo da Silva Francisco, Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla, Glenn M Chertow, Dianne Keen-Kim, Vivek Cha |
| Association of Genetically Predicted Skipping of COL4A4 Exon 27 with Hematuria and Albuminuria. Journal of the American Society of Nephrology : JASN 2024 8 . Frida Lona-Durazo, Kohei Omachi, Damian Fermin, Felix Eichinger, Jonathan P Troost, Meei-Hua Lin, Ian R Dinsmore, Tooraj Mirshahi, Alexander R Chang, Jeffrey H Miner, Andrew D Paterson, Moumita Barua, Sarah A Gagliano Tali |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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