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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 15 (of 15 Records)

Query Trace: Polycystic Liver Disease[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
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
LRP5 variants may contribute to ADPKD.
European journal of human genetics : EJHG 2015 Apr .
Cnossen Wybrich R, Te Morsche René Hm, Hoischen Alexander, Gilissen Christian, Venselaar Hanka, Mehdi Soufi, Bergmann Carsten, Losekoot Monique, Breuning Martijn H, Peters Dorien Jm, Veltman Joris A, Drenth Joost
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
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
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Journal of the American Society of Nephrology : JASN 2019 8 30 (11): 2091-2102.
Besse Whitney, Chang Alex R, Luo Jonathan Z, Triffo William J, Moore Bryn S, Gulati Ashima, Hartzel Dustin N, Mane Shrikant, , Torres Vicente E, Somlo Stefan, Mirshahi Toor
Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county.
JHEP reports : innovation in hepatology 2020 11 2 (6): 100166.
Suwabe Tatsuya, Chamberlain Alanna M, Killian Jill M, King Bernard F, Gregory Adriana V, Madsen Charles D, Wang Xiaofang, Kline Timothy L, Chebib Fouad T, Hogan Marie C, Kamath Patrick S, Harris Peter C, Torres Vicente
Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease.
Hepatology international 2021 4 15 (3): 791-803.
Kataoka Hiroshi, Watanabe Saki, Sato Masayo, Manabe Shun, Makabe Shiho, Akihisa Taro, Ushio Yusuke, Iwasa Naomi, Yoshida Rie, Tsuchiya Ken, Nitta Kosaku, Mochizuki Tosh
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
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
Novel ?-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.
Genes 2023 8 14 (8): .
Melissa M Boerrigter, René H M Te Morsche, Hanka Venselaar, Nikki Pastoors, Anja M Geerts, Anne Hoorens, Joost P H Dren
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
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,
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
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