HuGE Literature Finder
Records 1-30
Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.
Hereditas 2020 Jan 157 (1): 2. Dong Zheng, Zhou Jingru, Jiang Shuai, Li Yuan, Zhao Dongbao, Yang Chengde, Ma Yanyun, He Hongjun, Ji Hengdong, Jin Li, Zou Hejian, Wang Jiuc |
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Scientific reports 2019 Nov 9 (1): 16952. Kim Hyunsuk, Park Hayne Cho, Ryu Hyunjin, Kim Hyunho, Lee Hyun-Seob, Heo Jongho, Lee Chung, Kim Nayoung K D, Park Woong-Yang, Hwang Young-Hwan, Lee Kyu Beck, Oh Kook-Hwan, Oh Yun Kyu, Ahn Cur |
Age- and height-adjusted total kidney volume growth rate in autosomal dominant polycystic kidney diseases.
Clinical and experimental nephrology 2018 Jul . Higashihara Eiji, Yamamoto Kouji, Kaname Shinya, Okegawa Takatsugu, Tanbo Mitsuhiro, Yamaguchi Tsuyoshi, Shigemori Kaori, Miyazaki Isao, Yokoyama Kenichi, Nutahara Kik |
Genome-wide association analysis identifies multiple loci associated with kidney disease-related traits in Korean populations.
![]() PloS one 2018 13 (3): e0194044. Lee Jeonghwan, Lee Young, Park Boram, Won Sungho, Han Jin Suk, Heo Nam |
Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.
Journal of genetics 2017 Dec 96 (6): 885-893. Raj Sonam, Singh Rana Gopal, Das Parim |
Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries.
Journal of human genetics 2017 Jan . Eckert Scott, Feingold Eleanor, Cooper Margaret, Vanyukov Michael M, Maher Brion S, Slayton Rebecca L, Willing Marcia C, Reis Steven E, McNeil Daniel W, Crout Richard J, Weyant Robert J, Levy Steven M, Vieira Alexandre R, Marazita Mary L, Shaffer John |
Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2016 Dec 25 (12): 2900-2906. Hirota Kengo, Akagawa Hiroyuki, Onda Hideaki, Yoneyama Taku, Kawamata Takakazu, Kasuya Hidetos |
System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.
Scientific reports 2016 Oct 6 35945. Jin Meiling, Xie Yuansheng, Chen Zhiqiang, Liao Yujie, Li Zuoxiang, Hu Panpan, Qi Yan, Yin Zhiwei, Li Qinggang, Fu Ping, Chen Xiangm |
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 |
Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
Radiology 2016 Apr 151650. Kim Jin Ah, Blumenfeld Jon D, Chhabra Shalini, Dutruel Silvina P, Thimmappa Nanda Deepa, Bobb Warren O, Donahue Stephanie, Rennert Hanna E, Tan Adrian Y, Giambrone Ashley E, Prince Martin |
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN 2016 Jan . Heyer Christina M, Sundsbak Jamie L, Abebe Kaleab Z, Chapman Arlene B, Torres Vicente E, Grantham Jared J, Bae Kyongtae T, Schrier Robert W, Perrone Ronald D, Braun William E, Steinman Theodore I, Mrug Michal, Yu Alan S L, Brosnahan Godela, Hopp Katharina, Irazabal Maria V, Bennett William M, Flessner Michael F, Moore Charity G, Landsittel Douglas, Harris Peter C, |
Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease.
Cancer genetics 2015 Dec . Zhang Wanying, Tan Adrian Y, Blumenfeld Jon, Liu Genyan, Michaeel Alber, Zhang Tuo, Robinson Brian D, Salvatore Steven P, Kapur Sandip, Donahue Stephanie, Bobb Warren O, Rennert Han |
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN 2015 Oct . Hwang Young-Hwan, Conklin John, Chan Winnie, Roslin Nicole M, Liu Jannel, He Ning, Wang Kairong, Sundsbak Jamie L, Heyer Christina M, Haider Masoom, Paterson Andrew D, Harris Peter C, Pei Yo |
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 |
[Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Feb 32 (1): 60-3. Li Haijiang, Zhang Linming, Chen Tao, Yang Dan, Zhu Yangfan, Wang Liho |
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
Scientific reports 2015 5 17468. Liu Bei, Chen Song-Chang, Yang Yan-Mei, Yan Kai, Qian Ye-Qing, Zhang Jun-Yu, Hu Yu-Ting, Dong Min-Yue, Jin Fan, Huang He-Feng, Xu Chen-Mi |
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Molecular genetics & genomic medicine 2014 Sep 2 (5): 412-21. Trujillano Daniel, Bullich Gemma, Ossowski Stephan, Ballarín José, Torra Roser, Estivill Xavier, Ars Elisab |
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
The Journal of molecular diagnostics : JMD 2014 Mar 16 (2): 216-28. Tan Adrian Y, Michaeel Alber, Liu Genyan, Elemento Olivier, Blumenfeld Jon, Donahue Stephanie, Parker Tom, Levine Daniel, Rennert Han |
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Pediatric nephrology (Berlin, Germany) 2014 Feb 29 (2): 223-34. Krall Paola, Pineda Cristina, Ruiz Patricia, Ejarque Laia, Vendrell Teresa, Camacho Juan Antonio, Mendizábal Santiago, Oliver Artur, Ballarín José, Torra Roser, Ars Elisab |
Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
BMC medical genetics 2014 15 (1): 129. Choi Rihwa, Park Hayne Cho, Lee Kyunghoon, Lee Myoung-Gun, Kim Jong-Won, Ki Chang-Seok, Hwang Young-Hwan, Ahn Cur |
Modification of PCR conditions and design of exon-specific primers for the efficient molecular diagnosis of PKD1 mutations.
Kidney & blood pressure research 2014 39 (6): 536-45. Liu WeiQiang, Chen Min, Wei Jun, He WenYin, Li ZhiHua, Sun XiaoFang, Shi YuLi |
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.
BMC medical genetics 2014 15 (1): 41. Obeidova Lena, Elisakova Veronika, Stekrova Jitka, Reiterova Jana, Merta Miroslav, Tesar Vladimir, Losan Frantisek, Kohoutova Mila |
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
Journal of human genetics 2013 Nov 58 (11): 720-7. Chang Ming-Yang, Chen Hsiao-Mang, Jenq Chang-Chyi, Lee Shen-Yang, Chen Yu-Ming, Tian Ya-Chung, Chen Yung-Chang, Hung Cheng-Chieh, Fang Ji-Tseng, Yang Chih-Wei, Wu-Chou Yah-Hu |
Type of PKD1 mutation influences renal outcome in ADPKD.
Journal of the American Society of Nephrology : JASN 2013 May 24 (6): 1006-13. Cornec-Le Gall Emilie, Audrézet Marie-Pierre, Chen Jian-Min, Hourmant Maryvonne, Morin Marie-Pascale, Perrichot Régine, Charasse Christophe, Whebe Bassem, Renaudineau Eric, Jousset Philippe, Guillodo Marie-Paule, Grall-Jezequel Anne, Saliou Philippe, Férec Claude, Le Meur Yanni |
GWAS of Dental Caries Patterns in the Permanent Dentition.
![]() Journal of dental research 2012 Oct . Shaffer JR, Feingold E, Wang X, Lee M, Tcuenco K, Weeks DE, Weyant RJ, Crout R, McNeil DW, Marazita ML |
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
BMC nephrology 2012 Aug 13 (1): 1. Robinson C, Hiemstra TF, Spencer D, Waller S, Daboo L, Karet Frankl FE, Sandford RN |
Pathway analysis of genome-wide association studies on uric acid concentrations.
Human immunology 2012 Aug 73 (8): 805-10. Lee Young Ho, Song Gwan G |
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.
Pediatric nephrology (Berlin, Germany) 2009 May 24 (5): 983-9. Fencl Filip, Janda Jan, Bláhová Kveta, Hríbal Zdenek, Stekrová Jitka, Puchmajerová Alena, Seeman Tom |
[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].
Nefrología : publicación oficial de la Sociedad Española Nefrologia 2009 29 (6): 562-8. Gómez P Fraile, Moro E Corral, García-Cosmes P, Sarmiento R González, Romo J M Taberne |
[Plasma NGAL and ADPKD progression].
Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia 0 32 (3): . Virzì Grazia Maria, Gastaldon Fiorella, Corradi Valentina, de Cal Massimo, Cruz Dinna N, Clementi Maurizio, Ronco Claud |
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- Page last updated:Apr 15, 2021
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