Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and SEC63[original query] |
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| Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Human mutation 2006 Aug 27 (8): 830. Waanders Esmé, te Morsche René H M, de Man Rob A, Jansen Jan B M J, Drenth Joost P |
| Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver international : official journal of the International Association for the Study of the Liver 2011 Jan 31 (1): 92-8. Van Keimpema Loes, De Koning Daan B, Van Hoek Bart, Van Den Berg Aad P, Van Oijen Martijn G H, De Man Robert A, Nevens Frederik, Drenth Joost P |
| Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. European journal of human genetics : EJHG 2016 Aug . Wills Edgar S, Cnossen Wybrich R, Veltman Joris A, Woestenenk Rob, Steehouwer Marloes, Salomon Jody, Te Morsche René H M, Huch Meritxell, Hehir-Kwa Jayne Y, Banning Martijn J, Pfundt Rolph, Roepman Ronald, Hoischen Alexander, Drenth Joost P |
| Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. Journal of the American Society of Nephrology : JASN 2017 10 29 (1): 13-23. Cornec-Le Gall Emilie, Torres Vicente E, Harris Peter |
| Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. Journal of the American Society of Nephrology : JASN 2018 8 29 (10): 2593-2600. Lanktree Matthew B, Haghighi Amirreza, Guiard Elsa, Iliuta Ioan-Andrei, Song Xuewen, Harris Peter C, Paterson Andrew D, Pei Yo |
Genome-wide association study for time to failure of kidney transplants from African American deceased donors.
Clinical transplantation 2020 Feb e13827. Divers Jasmin, Ma Lijun, Brown William Mark, Palmer Nicholette D, Choi Young, Israni Ajay K, Pastan Stephen O, Julian Bruce A, Gaston Robert S, Hicks Pamela J, Reeves-Daniel Amber M, Freedman Barry |
| 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 |
| 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 |
| 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 |
| Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease. Gastroenterology 2023 12 . Ria Schönauer, Dana Sierks, Melissa Boerrigter, Tabinda Jawaid, Lea Caroff, Marie-Pierre Audrezet, Anja Friedrich, Melissa Shaw, Jan Degenhardt, Mirjam Forberger, Jonathan de Fallois, Henrik Bläker, Carsten Bergmann, Juliana Gödiker, Philipp Schindler, Bernhard Schlevogt, Roman U Müller, Thomas Berg, Ilse Patterson, William J Griffiths, John A Sayer, , Bernt Popp, Vicente E Torres, Marie C Hogan, Stefan Somlo, Terry J Watnick, Frederik Nevens, Whitney Besse, Emilie Cornec-Le Gall, Peter C Harris, Joost P H Drenth, Jan Halbritt |
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