Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 194 Records) |
Query Trace: Polycystic kidney disease[original query] |
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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 |
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 |
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 |
The Role of Angiotensin II Type 1 Receptor A1166C Polymorphism in Autosomal Dominant Polycystic Kidney Disease. Cureus 2023 7 15 (6): e41136. Anand Sasidharan, Bhargavi Mv, Rajkumar Mani, Sathyamurthy |
Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants. Journal of feline medicine and surgery 2023 7 25 (7): 1098612X231185393. Fumitaka Shitamori, Ayaka Nonogaki, Tomoki Motegi, Yuki Matsumoto, Mika Sakamoto, Yasuhiro Tanizawa, Yasukazu Nakamura, Tomohiro Yonezawa, Yasuyuki Momoi, Shingo Mae |
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 |
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 |
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 |
Whole-Exome Sequencing Revealed the Mutational Profiles of Primary Central Nervous System Lymphoma. Clinical lymphoma, myeloma & leukemia 2023 2 . Zhang Rui, Wei Boyuan, Hu Yiyang, Lv Wenying, Adilai Abudurexiti, Yang Fan, Zhang Jianning, Cheng Ga |
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 |
Polygenic risk alters the penetrance of monogenic kidney disease. Nature communications 2023 12 14 (1): 8318. Atlas Khan, Ning Shang, Jordan G Nestor, Chunhua Weng, George Hripcsak, Peter C Harris, Ali G Gharavi, Krzysztof Kiryl |
Serum bile acids associate with liver volume in polycystic liver disease and decrease upon treatment with lanreotide. European journal of clinical investigation 2023 12 e14147. Shosha E I Dekker, Jörgen Bierau, Martin Giera, Niek Blomberg, Joost P H Drenth, Oleg A Mayboroda, Johan W de Fijter, Darius Soonawala, |
Prevalence of pericardial effusion in autosomal dominant polycystic kidney disease. Clinical kidney journal 2023 11 16 (11): 2041-2047. Johanna Sophia Jost, Till Frederik Kaireit, Bernd Auber, Johannes Beller, Kai Martin Schmidt-Ott, Roland Schmitt, Vera Christine Wulfmey |
The genetic spectrum of polycystic kidney disease in children. Revista da Associacao Medica Brasileira (1992) 2023 11 69 (11): e20230334. Ayca Kocaaga, Yesim Özdemir Atikel, Mehtap Sak, Taner Karaka |
Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease. Kidney research and clinical practice 2023 10 42 (5): 617-627. Jeong Min Cho, Hayne Cho Park, Jin Woo Lee, Hyunjin Ryu, Yong Chul Kim, Curie Ahn, Kyu-Beck Lee, Yeong Hoon Kim, Seungyeup Han, Yaerim Kim, Eun Hui Bae, Hee Gyung Kang, Eujin Park, Kyungjo Jeong, Seoon Kang, Jungmin Choi, Kook-Hwan Oh, Yun Kyu |
Pleural Effusions on MRI in Autosomal Dominant Polycystic Kidney Disease. Journal of clinical medicine 2023 1 12 (1): . Liu Jin, Yin Xiaorui, Dev Hreedi, Luo Xianfu, Blumenfeld Jon D, Rennert Hanna, Prince Martin |
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 |
Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of clinical investigation 2024 8 . Omid Sadeghi-Alavijeh, Melanie My Chan, Gabriel T Doctor, Catalin D Voinescu, Alexander Stuckey, Athanasios Kousathanas, Alexander T Ho, Horia C Stanescu, Detlef Bockenhauer, Richard N Sandford, Adam P Levine, Daniel P Ga |
Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1. Frontiers in genetics 2024 7 15 1429336. Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Jingfang Zh |
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 |
Exploring Adiponectin in Autosomal Dominant Kidney Disease: Insight and Implications. Genes 2024 4 15 (4): . Ersilia Nigro, Marta Mallardo, Maria Amicone, Daniela D'Arco, Eleonora Riccio, Maurizio Marra, Fabrizio Pasanisi, Antonio Pisani, Aurora Danie |
Prevalence and outcomes of polycystic kidney disease in African populations: A systematic review. World journal of nephrology 2024 4 13 (1): 90402. Modou Ndongo, Lot Motoula Nehemie, Baratou Coundoul, Abou Abdallah Malick Diouara, Sidy Mohamed Se |
PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients. American journal of nephrology 2024 1 . Hamad Ali, Barrak Alahmad, Sarah R Senum, Samia Warsame, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Malak Alqaddoumi, Fahd Al-Mulla, Peter C Harr |
Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study. Reproductive biology and endocrinology : RB&E 2024 1 22 (1): 8. Ilana Weizel, Tal Shavit, Yulia Shuli, Chana Adler Lazarovich, Rivka Halevi, Tal Ben Ari, Shira Yaacobi-Artzi, Yaakov Bentov, Baruch Feldman, Anat Hershko Kleme |
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 |
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