155 related articles for article (PubMed ID: 22863349)
1. Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
Robinson C; Hiemstra TF; Spencer D; Waller S; Daboo L; Karet Frankl FE; Sandford RN
BMC Nephrol; 2012 Aug; 13():79. PubMed ID: 22863349
[TBL] [Abstract][Full Text] [Related]
2. Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.
Vazifehmand R; Rossetti S; Saber S; Khorshid HR; Harris PC
BMC Nephrol; 2013 Sep; 14():190. PubMed ID: 24011172
[TBL] [Abstract][Full Text] [Related]
3. PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Stekrová J; Reiterová J; Merta M; Damborsky J; Zidovská J; Kebrdlová V; Kohoutová M
Nephrol Dial Transplant; 2004 May; 19(5):1116-22. PubMed ID: 14993477
[TBL] [Abstract][Full Text] [Related]
4. PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
Cornec-Le Gall E; Audrézet MP; Renaudineau E; Hourmant M; Charasse C; Michez E; Frouget T; Vigneau C; Dantal J; Siohan P; Longuet H; Gatault P; Ecotière L; Bridoux F; Mandart L; Hanrotel-Saliou C; Stanescu C; Depraetre P; Gie S; Massad M; Kersalé A; Séret G; Augusto JF; Saliou P; Maestri S; Chen JM; Harris PC; Férec C; Le Meur Y
Am J Kidney Dis; 2017 Oct; 70(4):476-485. PubMed ID: 28356211
[TBL] [Abstract][Full Text] [Related]
5. The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall E; Chebib FT; Madsen CD; Senum SR; Heyer CM; Lanpher BC; Patterson MC; Albright RC; Yu AS; Torres VE; ; Harris PC
Am J Kidney Dis; 2018 Aug; 72(2):302-308. PubMed ID: 29395486
[TBL] [Abstract][Full Text] [Related]
6. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
Neumann HP; Bacher J; Nabulsi Z; Ortiz Brüchle N; Hoffmann MM; Schaeffner E; Nürnberger J; Cybulla M; Wilpert J; Riegler P; Corradini R; Kraemer-Guth A; Azurmendi P; Nunez M; Gläsker S; Zerres K; Jilg C
Int Urol Nephrol; 2012 Dec; 44(6):1753-62. PubMed ID: 22367170
[TBL] [Abstract][Full Text] [Related]
7. Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History.
Sekine A; Fujimaru T; Hoshino J; Suwabe T; Oguro M; Mizuno H; Kawada M; Sumida K; Hiramatsu R; Hasegawa E; Yamanouchi M; Hayami N; Mandai S; Chiga M; Kikuchi H; Ando F; Mori T; Sohara E; Uchida S; Sawa N; Takaichi K; Ubara Y
Am J Nephrol; 2019; 49(3):233-240. PubMed ID: 30820006
[TBL] [Abstract][Full Text] [Related]
8. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R; He N; Wang K; Andrew R; Johnson A; Gabow P; Dicks E; Parfrey P; Torra R; San-Millan JL; Coto E; Van Dijk M; Breuning M; Peters D; Bogdanova N; Ligabue G; Albertazzi A; Hateboer N; Demetriou K; Pierides A; Deltas C; St George-Hyslop P; Ravine D; Pei Y
J Am Soc Nephrol; 2003 May; 14(5):1164-74. PubMed ID: 12707387
[TBL] [Abstract][Full Text] [Related]
9. Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
Heyer CM; Sundsbak JL; Abebe KZ; Chapman AB; Torres VE; Grantham JJ; Bae KT; Schrier RW; Perrone RD; Braun WE; Steinman TI; Mrug M; Yu AS; Brosnahan G; Hopp K; Irazabal MV; Bennett WM; Flessner MF; Moore CG; Landsittel D; Harris PC;
J Am Soc Nephrol; 2016 Sep; 27(9):2872-84. PubMed ID: 26823553
[TBL] [Abstract][Full Text] [Related]
10. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Hoefele J; Mayer K; Scholz M; Klein HG
Nephrol Dial Transplant; 2011 Jul; 26(7):2181-8. PubMed ID: 21115670
[TBL] [Abstract][Full Text] [Related]
11. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
Elisakova V; Merta M; Reiterova J; Baxova A; Kotlas J; Hirschfeldova K; Obeidova L; Tesar V; Stekrova J
BMC Nephrol; 2018 Jul; 19(1):163. PubMed ID: 29973168
[TBL] [Abstract][Full Text] [Related]
12. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC; Lundie B; Hort Y; Schonrock N; Senum SR; Gayevskiy V; Minoche AE; Hollway G; Ohnesorg T; Hinchcliffe M; Patel C; Tchan M; Mallett A; Dinger ME; Rangan G; Cowley MJ; Harris PC; Burnett L; Shine J; Furlong TJ
Eur J Hum Genet; 2021 May; 29(5):760-770. PubMed ID: 33437033
[TBL] [Abstract][Full Text] [Related]
13. Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.
Ranjzad F; Tara A; Basiri A; Aghdami N; Moghadasali R
Clin Lab; 2017 Jul; 63(7):1261-1267. PubMed ID: 28792715
[TBL] [Abstract][Full Text] [Related]
14. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
Abdelwahed M; Hilbert P; Ahmed A; Mahfoudh H; Bouomrani S; Dey M; Hachicha J; Kamoun H; Keskes-Ammar L; Belguith N
Gene; 2018 Sep; 671():28-35. PubMed ID: 29860066
[TBL] [Abstract][Full Text] [Related]
15. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
Raj S; Singh RG; Das P
Mutat Res; 2020; 821():111718. PubMed ID: 32823016
[TBL] [Abstract][Full Text] [Related]
16. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
Torra R; Badenas C; Pérez-Oller L; Luis J; Millán S; Nicolau C; Oppenheimer F; Milà M; Darnell A
Am J Kidney Dis; 2000 Oct; 36(4):728-34. PubMed ID: 11007674
[TBL] [Abstract][Full Text] [Related]
17. Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.
Berckmoes V; Verdyck P; De Becker P; De Vos A; Verheyen G; Van der Niepen P; Verpoest W; Liebaers I; Bonduelle M; Keymolen K; De Rycke M
Hum Reprod; 2019 May; 34(5):949-958. PubMed ID: 30927425
[TBL] [Abstract][Full Text] [Related]
18. Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.
Wang K; Zhao X; Chan S; Cil O; He N; Song X; Paterson AD; Pei Y
Clin J Am Soc Nephrol; 2009 Feb; 4(2):442-9. PubMed ID: 19158373
[TBL] [Abstract][Full Text] [Related]
19. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
Kim JA; Blumenfeld JD; Chhabra S; Dutruel SP; Thimmappa ND; Bobb WO; Donahue S; Rennert HE; Tan AY; Giambrone AE; Prince MR
Radiology; 2016 Sep; 280(3):762-70. PubMed ID: 27046073
[TBL] [Abstract][Full Text] [Related]
20. Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T; Li Q; Shang S; Geng G; Xie Y; Cai G; Chen X
Mol Genet Genomic Med; 2019 Jun; 7(6):e720. PubMed ID: 31056860
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]