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Items: 1 to 20 of 105

1.

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Mallawaarachchi AC, Furlong TJ, Shine J, Harris PC, Cowley MJ.

Genet Med. 2019 Jun;21(6):1425-1434. doi: 10.1038/s41436-018-0324-x. Epub 2018 Oct 29.

2.

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.

Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850.

3.

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.

4.

Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.

Sha YK, Sha YW, Mei LB, Huang XJ, Wang X, Lin SB, Li L, Li P.

Gene. 2017 Nov 15;634:1-4. doi: 10.1016/j.gene.2017.08.040. Epub 2017 Sep 1.

PMID:
28870863
5.

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.

6.

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. doi: 10.1053/j.ajkd.2017.01.046. Epub 2017 Mar 27.

7.

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.

Lanktree MB, Haghighi A, Guiard E, Iliuta IA, Song X, Harris PC, Paterson AD, Pei Y.

J Am Soc Nephrol. 2018 Oct;29(10):2593-2600. doi: 10.1681/ASN.2018050493. Epub 2018 Aug 22.

8.

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

Ali H, Hussain N, Naim M, Zayed M, Al-Mulla F, Kehinde EO, Seaburg LM, Sundsbak JL, Harris PC.

BMC Nephrol. 2015 Mar 1;16:26. doi: 10.1186/s12882-015-0015-7.

9.

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

Mallawaarachchi AC, Hort Y, Cowley MJ, McCabe MJ, Minoche A, Dinger ME, Shine J, Furlong TJ.

Eur J Hum Genet. 2016 Nov;24(11):1584-1590. doi: 10.1038/ejhg.2016.48. Epub 2016 May 11.

10.

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
11.

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.

12.

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. doi: 10.1093/ndt/gfq720. Epub 2010 Nov 29.

PMID:
21115670
13.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC.

J Hum Genet. 2019 May;64(5):409-419. doi: 10.1038/s10038-019-0582-8. Epub 2019 Feb 28.

PMID:
30816285
14.

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.

15.

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Tan AY, Zhang T, Michaeel A, Blumenfeld J, Liu G, Zhang W, Zhang Z, Zhu Y, Rennert L, Martin C, Xiang J, Salvatore SP, Robinson BD, Kapur S, Donahue S, Bobb WO, Rennert H.

J Am Soc Nephrol. 2018 Aug;29(8):2139-2156. doi: 10.1681/ASN.2017080878. Epub 2018 Jul 24.

16.

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 10;671:28-35. doi: 10.1016/j.gene.2018.05.112. Epub 2018 Jun 1.

PMID:
29860066
17.

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Choi R, Park HC, Lee K, Lee MG, Kim JW, Ki CS, Hwang YH, Ahn C.

BMC Med Genet. 2014 Dec 10;15:129. doi: 10.1186/s12881-014-0129-y.

18.

Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

Hafizi A, Khatami SR, Galehdari H, Shariati G, Saberi AH, Hamid M.

Iran Biomed J. 2014 Jul;18(3):143-50.

19.

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 1;63(7):1261-1267. doi: 10.7754/Clin.Lab.2017.170209.

PMID:
28792715
20.

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.

J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23.

PMID:
22114106

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