Breuning MH - Search Results

1

Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.

Peters DJ, Ariyurek Y, van Dijk M, Breuning MH. Peters DJ, et al. Among authors: breuning mh. Eur J Hum Genet. 2001 Dec;9(12):957-60. doi: 10.1038/sj.ejhg.5200756. Eur J Hum Genet. 2001. PMID: 11840199

2

Large deletions in the polycystic kidney disease 1 (PKD1) gene.

Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ. Ariyurek Y, et al. Among authors: breuning mh. Hum Mutat. 2004 Jan;23(1):99. doi: 10.1002/humu.9208. Hum Mutat. 2004. PMID: 14695542

3

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, Deruiter MC, Breuning MH, de Heer E, Peters DJ. Lantinga-van Leeuwen IS, et al. Among authors: breuning mh. Hum Mol Genet. 2004 Dec 15;13(24):3069-77. doi: 10.1093/hmg/ddh336. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496422

4

Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.

Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH, Peters DJ. Lantinga-van Leeuwen IS, et al. Among authors: breuning mh. Eur J Hum Genet. 2005 May;13(5):649-59. doi: 10.1038/sj.ejhg.5201392. Eur J Hum Genet. 2005. PMID: 15770226

5

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ. Losekoot M, et al. Among authors: breuning mh. Hum Genet. 2005 Nov;118(2):185-206. doi: 10.1007/s00439-005-0027-7. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133180

6

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.

Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E, Peters DJ. Lantinga-van Leeuwen IS, et al. Among authors: breuning mh. Hum Mol Genet. 2007 Dec 15;16(24):3188-96. doi: 10.1093/hmg/ddm299. Epub 2007 Oct 11. Hum Mol Genet. 2007. PMID: 17932118

7

LRP5 variants may contribute to ADPKD.

Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP. Cnossen WR, et al. Among authors: breuning mh. Eur J Hum Genet. 2016 Feb;24(2):237-42. doi: 10.1038/ejhg.2015.86. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920554 Free PMC article.

8

Intracranial aneurysms in polycystic kidney disease linked to chromosome 4.

van Dijk MA, Chang PC, Peters DJ, Breuning MH. van Dijk MA, et al. Among authors: breuning mh. J Am Soc Nephrol. 1995 Dec;6(6):1670-3. doi: 10.1681/ASN.V661670. J Am Soc Nephrol. 1995. PMID: 8749697

9

Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product.

Peters DJ, Spruit L, Klingel R, Prins F, Baelde HJ, Giordano PC, Bernini LF, de Heer E, Breuning MH, Bruijn JA. Peters DJ, et al. Among authors: breuning mh. Lab Invest. 1996 Aug;75(2):221-30. Lab Invest. 1996. PMID: 8765322

10

Detection of translation terminating mutations in the PKD1 gene.

Roelfsema JH, Peters DJ, Breuning MH. Roelfsema JH, et al. Among authors: breuning mh. Nephrol Dial Transplant. 1996;11 Suppl 6:5-9. doi: 10.1093/ndt/11.supp6.5. Nephrol Dial Transplant. 1996. PMID: 9044319

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