Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Hematuria and COL4A5[original query] |
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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 |
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 variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
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 |
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife. Kidney international 2020 12 99 (6): 1451-1458. ?urowska Aleksandra M, Bielska Olga, Daca-Roszak Patrycja, Jankowski Maciej, Szczepa?ska Maria, Roszkowska-Bjanid Dagmara, Ku?ma-Mroczkowska El?bieta, Pa?czyk-Tomaszewska Ma?gorzata, Moczulska Anna, Dro?d? Dorota, Hadjipanagi Despina, Deltas Constantinos, Ostalska-Nowicka Danuta, Rabiega Alina, Taraszkiewicz Janina, Taranta-Janusz Katarzyna, Wieczorkiewicz-Plaza Anna, Jobs Katarzyna, Mews Judyta, Musia? Kinga, Jakubowska Anna, Nosek Hanna, Jander Anna E, Koutsofti Constantina, Stanis?awska-Sachadyn Anna, Kuleszo Dominka, Zi?tkiewicz Ewa, Lipska-Zi?tkiewicz Beata |
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 |
[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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