Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 121 Records) |
| Query Trace: Disease and PKD1[original query] |
|---|
| 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 |
| Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation. Frontiers in molecular neuroscience 2022 5 15 861159. Wang Jing-Yang, Wang Jie, Lu Xin-Guo, Song Wang, Luo Sheng, Zou Dong-Fang, Hua Li-Dong, Peng Qian, Tian Yang, Gao Liang-Di, Liao Wei-Ping, He |
| Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes. Genes 2022 3 13 (3): . Peces Ramón, Peces Carlos, Mena Rocío, Cuesta Emilio, García-Santiago Fe Amalia, Ossorio Marta, Afonso Sara, Lapunzina Pablo, Nevado Juli |
| 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 |
| Molecular detection of polycystic kidney disease in Persian and Persian-related breeds in Iran. JFMS open reports 2022 2 8 (1): 20551169211070991. Moazezi Ghavihelm Ali, Jamshidi Shahram, Ashrafi Tamai Iraj, Zangisheh Mah |
| 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, |
| Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nature genetics 2022 Feb . Jurgens Sean J, Choi Seung Hoan, Morrill Valerie N, Chaffin Mark, Pirruccello James P, Halford Jennifer L, Weng Lu-Chen, Nauffal Victor, Roselli Carolina, Hall Amelia W, Oetjens Matthew T, Lagerman Braxton, vanMaanen David P, , Aragam Krishna G, Lunetta Kathryn L, Haggerty Christopher M, Lubitz Steven A, Ellinor Patrick |
| 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 |
| 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 |
| 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 |
| 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 |
| Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States. Kidney international reports 2024 9 9 (9): 2667-2676. Ronaldo da Silva Francisco, Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla, Glenn M Chertow, Dianne Keen-Kim, Vivek Cha |
| Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History. Kidney international reports 2024 9 9 (9): 2685-2694. Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Yutaro Mori, Yu Hara, Tamami Fujiki, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Ryoichi Hanazawa, Akihiro Hirakawa, Toshio Mochizuki, Tatsuya Suwabe, Yoshifumi Ubara, Shinichi Uchida, Eisei Soha |
| 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 |
| Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease. Clinical genetics 2024 12 . Pelin Ercoskun, Aydeniz Aydin Gumus, Ezgi Gokpinar Ili, Lale Yilmaz Celik, Mustafa Dogan, Sevgi Yavuz, Gursel Yildiz, Alper Gezdiri |
| Integrated use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools and Risk Prognostication. Clinical journal of the American Society of Nephrology : CJASN 2024 12 . Constantin A Wolff, Valeria Aiello, Elhussein A E Elhassan, Carlotta Cristalli, Sarah Lerario, Alexandro Paccapelo, Francesca Ciurli, Francesca Montanari, Amalia Conti, Katherine Benson, Marco Seri, Carolin B Brigl, Julia S Münster, Nicola Sciascia, Sebastian Kursch, Jonathan de Fallois, Gaetano La Manna, Kai-Uwe Eckardt, Nina Rank, Bernt Popp, Ria Schönauer, Peter J Conlon, Irene Capelli, Jan Halbritt |
| Intestinal Barrier Function Declines During Polycystic Kidney Disease Progression. American journal of physiology. Renal physiology 2024 12 . Randee Sedaka, Caleb Lovelady, Emily Hallit, Branden Duyvestyn, Sejal Shinde, Aida Moran-Reyna, Goo Lee, Shinobu Yamaguchi, Craig L Maynard, Takamitsu Saigu |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: