Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 101 Records) |
Query Trace: PKD2[original query] |
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MR Brain Screening in ADPKD Patients : To Screen or not to Screen? Clinical neuroradiology 2021 9 32 (1): 69-78. Capelli I, Zoli M, Righini M, Faccioli L, Aiello V, Spinardi L, Gori D, Friso F, Rustici A, Bortolotti C, Graziano C, Mantovani V, Sciascia N, Mazzatenta D, Seri M, Pastore Trossello M, La Manna |
Quantile-Dependent Expressivity of Serum Uric Acid Concentrations. International journal of genomics 2021 9 2021 3889278. Williams Paul |
PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 6 30 (9): 105943. Shigemori Kaori, Higashihara Eiji, Itoh Masayuki, Yoshida Hiroki, Yamamoto Kouji, Nutahara Kikuo, Shiokawa Yoshiaki, Kaname Shinya, Tambo Mitsuhiro, Yamaguchi Tsuyoshi, Taguchi Satoru, Yoshioka Tatsuya, Yokoyama Kenichi, Fukuhara Hiros |
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. Journal of nephrology 2021 5 34 (6): 1855-1874. Zacchia Miriam, Blanco Francesca Del Vecchio, Trepiccione Francesco, Blasio Giancarlo, Torella Annalaura, Melluso Andrea, Capolongo Giovanna, Pollastro Rosa Maria, Piluso Giulio, Di Iorio Valentina, Simonelli Francesca, Viggiano Davide, Perna Alessandra, Nigro Vincenzo, Capasso Giovambattis |
Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease. Annals of translational medicine 2021 2 9 (2): 120. Wang Jiaru, Yang Huayu, Guo Ruohan, Sang Xinting, Mao Yil |
Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China. Andrologia 2021 Nov e14273. Li Weina, Liu Gang, Zhao Xingguo, Lu Yichang, Li Huanzhu, Zhang Huan, Lin |
A common intronic single nucleotide variant modifies PKD1 expression level. Clinical genetics 2022 Aug . Zhang Zhengmao, Blumenfeld Jon, Ramnauth Andrew, Barash Irina, Zhou Pengbo, Levine Daniel, Parker Thomas, Rennert Han |
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. NPJ genomic medicine 2022 Jul 7 (1): 40. Yu Chih-Chuan, Lee An-Fu, Kohl Stefen, Lin Ming-Yen, Cheng Siao Muk, Hung Chi-Chih, Chang Jer-Ming, Chiu Yi-Wen, Hwang Shang-Jyh, Otto Edgar A, Hildebrandt Friedhelm, , Hwang Daw-Ya |
Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease. Kidney diseases (Basel, Switzerland) 2022 6 8 (3): 246-252. Miyamoto Ryohei, Sekine Akinari, Fujimaru Takuya, Suwabe Tatsuya, Mizuno Hiroki, Hasegawa Eiko, Yamanouchi Masayuki, Chiga Motoko, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Sawa Naoki, Ubara Yoshifumi, Hoshino Junic |
Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease. American journal of nephrology 2022 3 53 (4): 316-324. Chedid Maroun, Hanna Christian, Zaatari Ghaith, Mkhaimer Yaman, Reddy Prajwal, Rangel Laureano, Zubidat Dalia, Kaidbay Daniel-Hasan Nabil, Irazabal Maria V, Connolly Heidi M, Senum Sarah R, Madsen Charles D, Hogan Marie C, Zoghby Ziad, Harris Peter C, Torres Vicente E, Johnson Jonathan N, Chebib Fouad |
Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022 2 37 (11): 2223-2233. Lefèvre Siriane, Audrézet Marie-Pierre, Halimi Jean-Michel, Longuet Hélène, Bridoux Frank, Ecotière Laure, Augusto Jean-François, Duveau Agnès, Renaudineau Eric, Vigneau Cécile, Frouget Thierry, Charasse Christophe, Gueguen Lorraine, Perrichot Régine, Couvrat Grégoire, Seret Guillaume, Le Meur Yannick, Cornec-Le Gall Emilie, |
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease. JAMA 2022 12 328 (24): 2412-2421. Chang Alexander R, Moore Bryn S, Luo Jonathan Z, Sartori Gino, Fang Brian, Jacobs Steven, Abdalla Yoosif, Taher Mohammed, Carey David J, Triffo William J, Singh Gurmukteshwar, Mirshahi Toor |
A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing. Frontiers in genetics 2022 10 13 934463. Yan Ziyan, Wang Yuchen, Deng Wenfeng, Zhou Yi, Hu Yangcheng, Qi Ka, Liu Ding, Xia Renfei, Liu Rumin, Zeng Wenli, Zhang Wei, Xu Jian, Xiong Fu, Miao Y |
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis. JHEP reports : innovation in hepatology 2022 10 4 (11): 100579. Sierks Dana, Schönauer Ria, Friedrich Anja, Hantmann Elena, de Fallois Jonathan, Linder Nikolas, Fischer Janett, Herber Adam, Bergmann Carsten, Berg Thomas, Halbritter J |
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools. Gene 2022 1 817 146174. Abdelwahed Mayssa, Hilbert Pascale, Ahmed Asma, Dey Mouna, Bouomrani Salem, Kamoun Hassen, Ammar-Keskes Leila, Belguith Nei |
Genetic contributions to female gout and hyperuricemia using genome-wide association study and polygenic risk score analyses.
Rheumatology (Oxford, England) 2022 6 . Lin Chien-Yu, Chang Ya-Sian, Liu Ting-Yuan, Huang Chung-Ming, Chung Chin-Chun, Chen Yu-Chia, Tsai Fuu-Jen, Chang Jan-Gowth, Chang Shun-J |
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease. American journal of kidney diseases : the official journal of the National Kidney Foundation 2023 9 . Omer Shlomovitz, Danit Atias-Varon, Dina Yagel, Ortal Barel, Hadas Shasha-Lavsky, Karl Skorecki, Aviva Eliyahu, Younes Bathish, Victor Frajewicki, Daniel Kushnir, Rinat Zaid, Tamar Paperna, Ayala Ofir, Marina Tchirkov, Kamal Hassan, Etty Kruzel, Khaled Khazim, Ronit Geron, Irit Weisman, Anaam Hanut, Farid Nakhoul, Yael Kenig-Kozlovsky, Gery Refael, Alon Antebi, Shimon Storch, Marcel Leiba, Maayan Kagan, Rachel Shukrun, Gidi Rechavi, Benjamin Dekel, Yishay Ben Moshe, Karin Weiss, Suheir Assady, Asaf Vivan |
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD. NPJ genomic medicine 2023 7 8 (1): 16. Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J Cowley, John Shine, Amali Mallawaarachc |
Predicting the Risk of Progression in Indian ADPKD Cohort using PROPKD Score - A Single-Center Retrospective Study. Indian journal of nephrology 2023 7 33 (3): 195-201. Shivendra Singh, H C Sreenidhi, Parimal Das, Chandra De |
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases. Genes 2023 6 14 (6): . Ersilia Nigro, Maria Amicone, Daniela D'Arco, Gina Sellitti, Oriana De Marco, Maria Guarino, Eleonora Riccio, Antonio Pisani, Aurora Danie |
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including A Novel Complex Rearrangement. Nephron 2023 5 . Silvia Orisio, Marina Noris, Miriam Rigoldi, Elena Bresin, Norberto Perico, Matias Trillini, Roberta Donadelli, Annalisa Perna, Ariela Benigni, Giuseppe Remuz |
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 |
Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans. Pharmacogenetics and genomics 2023 4 . Somila Mateza, Yuki Bradford, Gary Maartens, Simiso Sokhela, Nomathemba C Chandiwana, Willem D F Venter, Frank A Post, Marylyn D Ritchie, David W Haas, Phumla Sinxa |
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients. Genes 2023 2 14 (2): . Suzuki Yasuo, Katayama Kan, Saiki Ryosuke, Hirabayashi Yosuke, Murata Tomohiro, Ishikawa Eiji, Ito Masaaki, Dohi Kao |
Magnetic resonance imaging preprocessing and radiomic features for classification of autosomal dominant polycystic kidney disease genotype. Journal of medical imaging (Bellingham, Wash.) 2023 12 10 (6): 064503. Linnea E Kremer, Arlene B Chapman, Samuel G Arma |
The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study. Nephron 2023 1 1-14. Tutal Ozum, Gulhan Bora, Atayar Emine, Yuksel Selcuk, Ozcakar Z Birsin, Soylemezoglu Oguz, Saygili Seha, Caliskan Salim, Inozu Mihriban, Baskin Esra, Duzova Ali, Hayran Mutlu, Topaloglu Rezan, Ozaltin Fat |
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]. Zhonghua yi xue za zhi 2024 7 104 (28): 2642-2647. H K Duan, Y Bai, Y J Xia, L Wang, X D Ko |
Identification and properties of TRPV4 mutant channels present in polycystic kidney disease patients. Function (Oxford, England) 2024 7 . Ana M Hernández-Vega, Itzel Llorente, Raúl Sánchez-Hernández, Yayoi Segura, Teresa Tusié-Luna, Luis E Morales-Buenrostro, Refugio García-Villegas, León D Islas, Tamara Rosenba |
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort. Genes 2024 1 15 (1): . Valeria Aiello, Francesca Ciurli, Amalia Conti, Carlotta Pia Cristalli, Sarah Lerario, Francesca Montanari, Nicola Sciascia, Gisella Vischini, Benedetta Fabbrizio, Roberta Di Costanzo, Giulia Olivucci, Andrea Pietra, Antonia Lopez, Loretta Zambianchi, Gaetano La Manna, Irene Capel |
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2024 1 . Eugene W C Chen, Jiehan Chong, Manoj K Valluru, Miranda Durkie, Roslyn J Simms, Peter C Harris, Albert C M O |
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