Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Alport Syndrome[original query] |
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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, |
[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 |
Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports 2019 8 9 (1): 11976. Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic |
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 |
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney international 2020 Jul . Yamamura Tomohiko, Horinouchi Tomoko, Nagano China, Omori Takashi, Sakakibara Nana, Aoto Yuya, Ishiko Shinya, Nakanishi Koichi, Shima Yuko, Nagase Hiroaki, Takeda Hiroki, Rossanti Rini, Ye Ming Juan, Nozu Yoshimi, Ishimori Shingo, Ninchoji Takeshi, Kaito Hiroshi, Morisada Naoya, Iijima Kazumoto, Nozu Kand |
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 |
Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome. Investigative ophthalmology & visual science 2020 Feb 61 (2): 5. Hess Kristina, Pfau Maximilian, Wintergerst Maximilian W M, Loeffler Karin U, Holz Frank G, Herrmann Phili |
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 |
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 |
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. Pediatric nephrology (Berlin, Germany) 2021 11 37 (7): 1567-1574. Xiao Hongbo, Hildebrandt Friedhe |
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 |
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease. Kidney360 2022 4 1 (8): 772-780. Wilson Parker C, Love-Gregory Latisha, Corliss Meagan, McNulty Samantha, Heusel Jonathan W, Gaut Joseph |
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 |
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 |
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 |
Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study. Global pediatric health 2024 1 11 2333794X231221935. Ding Juan-Juan, Wang Jia, Liu Li-Li, Wang Si, Wang Xiao-Wen, Luan Jiang-Wei, Ke Li-Qin, Sun Jie, Zhao Pei-W |
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- Page last updated:Apr 29, 2024
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