Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 38 Records) |
| Query Trace: Syndrome and COL4A5[original query] |
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| 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 |
| Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome. Journal of the American Society of Nephrology : JASN 2018 7 29 (8): 2244-2254. Horinouchi Tomoko, Nozu Kandai, Yamamura Tomohiko, Minamikawa Shogo, Omori Takashi, Nakanishi Keita, Fujimura Junya, Ashida Akira, Kitamura Mineaki, Kawano Mitsuhiro, Shimabukuro Wataru, Kitabayashi Chizuko, Imafuku Aya, Tamagaki Keiichi, Kamei Koichi, Okamoto Kenjirou, Fujinaga Shuichiro, Oka Masafumi, Igarashi Toru, Miyazono Akinori, Sawanobori Emi, Fujimaru Rika, Nakanishi Koichi, Shima Yuko, Matsuo Masafumi, Ye Ming Juan, Nozu Yoshimi, Morisada Naoya, Kaito Hiroshi, Iijima Kazumo |
| 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 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 |
| 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 |
| Novel mutations in patients with X-linked Alport syndrome: Two case reports. Medicine 2019 5 98 (20): e15660. Oh Songhee, Kim Jieun, Kim Hyoungnae, Jeon Jin Seok, Noh Hyunjin, Han Dong Cheol, Jin So-Young, Kwon Soon H |
| 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 |
| 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 |
| 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, |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| 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 |
| Genetic features and kidney morphological changes in women with X-linked Alport syndrome. Journal of medical genetics 2023 5 . Hongling Di, Qing Wang, Dandan Liang, Jiahui Zhang, Erzhi Gao, Chunxia Zheng, Xiaomin Yu, Zhihong L |
| 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 |
| 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 |
| Clinical and Genetic characteristics of patients with Peripheral Retinal Fleck in Koreans. Korean journal of ophthalmology : KJO 2024 10 . Hun Young Lim, Kwangsic J |
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