Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: PRKCSH[original query] |
---|
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 |
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. Digestive diseases and sciences 2009 Mar . Yang AM, Shih SC, Chu CH, Wang TE, Yang WS |
DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes. Diabetologia 2010 Sep 53 (9): 1903-7. Hoverfelt A, Sallinen R, Söderlund J M, Forsblom C, Pettersson-Fernholm K, Parkkonen M, Groop P-H, Wessman M, |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: