Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Hematuria and COL4A3[original query] |
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| Mutations in the COL4A4 gene in thin basement membrane disease. Kidney international 2003 Feb 63 (2): 447-53. Buzza Mark, Dagher Hayat, Wang Yan Yan, Wilson Diane, Babon Jeffrey J, Cotton Richard G, Savige Ju |
| COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney international 2004 Mar 65 (3): 786-90. Wang Yan Yan, Rana Kesha, Tonna Stephen, Lin Tina, Sin Lydia, Savige Ju |
| The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2008 Dec 23 (12): 2201-7. Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Ju |
| 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 |
| 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 |
| Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. Nephron 2015 130 (3): 200-12. Stefanou Charalambos, Pieri Myrtani, Savva Isavella, Georgiou Georgia, Pierides Alkis, Voskarides Konstantinos, 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 |
Sequence variants associating with urinary biomarkers.
Human molecular genetics 2019 04 28 (7): 1199-1211. Benonisdottir Stefania, Kristjansson Ragnar P, Oddsson Asmundur, Steinthorsdottir Valgerdur, Mikaelsdottir Evgenia, Kehr Birte, Jensson Brynjar O, Arnadottir Gudny A, Sulem Gerald, Sveinbjornsson Gardar, Kristmundsdottir Snaedis, Ivarsdottir Erna V, Tragante Vinicius, Gunnarsson Bjarni, Runolfsdottir Hrafnhildur Linnet, Arthur Joseph G, Deaton Aimee M, Eyjolfsson Gudmundur I, Davidsson Olafur B, Asselbergs Folkert W, Hreidarsson Astradur B, Rafnar Thorunn, Thorleifsson Gudmar, Edvardsson Vidar, Sigurdsson Gunnar, Helgadottir Anna, Halldorsson Bjarni V, Masson Gisli, Holm Hilma, Onundarson Pall T, Indridason Olafur S, Benediktsson Rafn, Palsson Runolfur, Gudbjartsson Daniel F, Olafsson Isleifur, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Ka |
| 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 |
| 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 |
| Variants in genes coding for collagen type IV ?-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatric nephrology (Berlin, Germany) 2022 6 38 (3): 687-695. Alge Joseph L, Bekheirnia Nasim, Willcockson Alexandra R, Qin Xiang, Scherer Steven E, Braun Michael C, Bekheirnia Mir Re |
| 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 |
| [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 |
| 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 |
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