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Items: 1 to 20 of 101

1.

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.

Lanktree MB, Iliuta IA, Haghighi A, Song X, Pei Y.

Nephrol Dial Transplant. 2019 Sep 1;34(9):1453-1460. doi: 10.1093/ndt/gfy261. Review.

PMID:
30165646
2.

Molecular diagnosis of autosomal dominant polycystic kidney disease.

Song X, Haghighi A, Iliuta IA, Pei Y.

Expert Rev Mol Diagn. 2017 Oct;17(10):885-895. doi: 10.1080/14737159.2017.1358088. Epub 2017 Aug 13. Review.

PMID:
28724316
3.

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

Tan AY, Michaeel A, Liu G, Elemento O, Blumenfeld J, Donahue S, Parker T, Levine D, Rennert H.

J Mol Diagn. 2014 Mar;16(2):216-28. doi: 10.1016/j.jmoldx.2013.10.005. Epub 2013 Dec 27.

4.

Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.

Zhang M, Liu S, Xia X, Cui Y, Li X.

Nephrology (Carlton). 2019 May;24(5):504-510. doi: 10.1111/nep.13270.

PMID:
29633482
5.

[Genetics and genetic counseling].

Izzi C, Liut F, Dallera N, Mazza C, Magistroni R, Savoldi G, Scolari F.

G Ital Nefrol. 2016 Mar-Apr;33(2). pii: gin/33.2.4. Review. Italian.

PMID:
27067213
6.

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, Gondo N, Oka T, Kawahara K, Rigo K, Hague T, Katsuragi K, Sudo K, Takeshi M, Horie S, Nutahara K.

PLoS One. 2016 Nov 11;11(11):e0166288. doi: 10.1371/journal.pone.0166288. eCollection 2016.

7.

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Cornec-Le Gall E, Torres VE, Harris PC.

J Am Soc Nephrol. 2018 Jan;29(1):13-23. doi: 10.1681/ASN.2017050483. Epub 2017 Oct 16. Review.

8.

Molecular diagnostics for autosomal dominant polycystic kidney disease.

Harris PC, Rossetti S.

Nat Rev Nephrol. 2010 Apr;6(4):197-206. doi: 10.1038/nrneph.2010.18. Epub 2010 Feb 23. Review.

9.

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.

Xu D, Ma Y, Gu X, Bian R, Lu Y, Xing X, Mei C.

Kidney Blood Press Res. 2018;43(2):297-309. doi: 10.1159/000487899. Epub 2018 Mar 6.

10.

Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.

Fujimaru T, Mori T, Sekine A, Mandai S, Chiga M, Kikuchi H, Ando F, Mori Y, Nomura N, Iimori S, Naito S, Okado T, Rai T, Hoshino J, Ubara Y, Uchida S, Sohara E.

Clin Genet. 2018 Jul;94(1):125-131. doi: 10.1111/cge.13249. Epub 2018 Apr 11.

PMID:
29520754
11.

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Reiterová J, Štekrová J, Merta M, Kotlas J, Elišáková V, Lněnička P, Korabečná M, Kohoutová M, Tesař V.

BMC Nephrol. 2013 Mar 15;14:59. doi: 10.1186/1471-2369-14-59.

12.

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 4;19(1):163. doi: 10.1186/s12882-018-0978-2.

13.

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L, Elisakova V, Stekrova J, Reiterova J, Merta M, Tesar V, Losan F, Kohoutova M.

BMC Med Genet. 2014 Apr 3;15:41. doi: 10.1186/1471-2350-15-41.

14.

Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.

Tan YC, Blumenfeld J, Rennert H.

Biochim Biophys Acta. 2011 Oct;1812(10):1202-12. doi: 10.1016/j.bbadis.2011.03.002. Epub 2011 Mar 17. Review.

15.

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; HALT PKD and CRISP Investigators.

J Am Soc Nephrol. 2016 Sep;27(9):2872-84. doi: 10.1681/ASN.2015050583. Epub 2016 Jan 28.

16.

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

Qi XP, Du ZF, Ma JM, Chen XL, Zhang Q, Fei J, Wei XM, Chen D, Ke HP, Liu XZ, Li F, Chen ZG, Su Z, Jin HY, Liu WT, Zhao Y, Jiang HL, Lan ZZ, Li PF, Fang MY, Dong W, Zhang XN.

Gene. 2013 Mar 1;516(1):93-100. doi: 10.1016/j.gene.2012.12.060. Epub 2012 Dec 21.

PMID:
23266634
17.

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.

Yang T, Meng Y, Wei X, Shen J, Zhang M, Qi C, Wang C, Liu J, Ma M, Huang S.

Clin Chim Acta. 2014 Jun 10;433:12-9. doi: 10.1016/j.cca.2014.02.011. Epub 2014 Feb 26.

PMID:
24582653
18.

Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.

Ranjzad F, Aghdami N, Tara A, Mohseni M, Moghadasali R, Basiri A.

Kidney Blood Press Res. 2018;43(2):471-478. doi: 10.1159/000488471. Epub 2018 Mar 22.

19.

Exome sequencing of Saudi Arabian patients with ADPKD.

Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.

Ren Fail. 2019 Nov;41(1):842-849. doi: 10.1080/0886022X.2019.1655453.

20.

Practical genetics for autosomal dominant polycystic kidney disease.

Pei Y.

Nephron Clin Pract. 2011;118(1):c19-30. doi: 10.1159/000320887. Epub 2010 Nov 11. Review.

PMID:
21071968

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