Harris PC - Search Results

1

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW. Boczek NJ, et al. Among authors: harris pc. Eur J Hum Genet. 2018 Dec;26(12):1797-1809. doi: 10.1038/s41431-018-0222-3. Epub 2018 Aug 10. Eur J Hum Genet. 2018. PMID: 30097616 Free PMC article.

2

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC. Consugar MB, et al. Among authors: harris pc. Hum Genet. 2007 Jun;121(5):591-9. doi: 10.1007/s00439-007-0341-3. Epub 2007 Mar 22. Hum Genet. 2007. PMID: 17377820

3

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, Chauveau D, Rees L, Barratt TM, van't Hoff WG, Niaudet P, Torres VE, Harris PC. Rossetti S, et al. Among authors: harris pc. Kidney Int. 2009 Apr;75(8):848-55. doi: 10.1038/ki.2008.686. Epub 2009 Jan 21. Kidney Int. 2009. PMID: 19165178 Free PMC article.

4

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH 2nd, Harris PC. Tammachote R, et al. Among authors: harris pc. Hum Mol Genet. 2009 Sep 1;18(17):3311-23. doi: 10.1093/hmg/ddp272. Epub 2009 Jun 10. Hum Mol Genet. 2009. PMID: 19515853 Free PMC article.

5

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Vujic M, Heyer CM, Ars E, Hopp K, Markoff A, Orndal C, Rudenhed B, Nasr SH, Torres VE, Torra R, Bogdanova N, Harris PC. Vujic M, et al. Among authors: harris pc. J Am Soc Nephrol. 2010 Jul;21(7):1097-102. doi: 10.1681/ASN.2009101070. Epub 2010 Jun 17. J Am Soc Nephrol. 2010. PMID: 20558538 Free PMC article.

6

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC. Hopp K, et al. Among authors: harris pc. Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14. Hum Mol Genet. 2011. PMID: 21493627 Free PMC article.

7

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Rossetti S, Hopp K, Sikkink RA, Sundsbak JL, Lee YK, Kubly V, Eckloff BW, Ward CJ, Winearls CG, Torres VE, Harris PC. Rossetti S, et al. Among authors: harris pc. J Am Soc Nephrol. 2012 May;23(5):915-33. doi: 10.1681/ASN.2011101032. Epub 2012 Mar 1. J Am Soc Nephrol. 2012. PMID: 22383692 Free PMC article.

8

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Hopp K, Ward CJ, Hommerding CJ, Nasr SH, Tuan HF, Gainullin VG, Rossetti S, Torres VE, Harris PC. Hopp K, et al. Among authors: harris pc. J Clin Invest. 2012 Nov;122(11):4257-73. doi: 10.1172/JCI64313. Epub 2012 Oct 15. J Clin Invest. 2012. PMID: 23064367 Free PMC article.

9

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC. Leightner AC, et al. Among authors: harris pc. Hum Mol Genet. 2013 May 15;22(10):2024-40. doi: 10.1093/hmg/ddt054. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393159 Free PMC article.

10

The mutation, a key determinant of phenotype in ADPKD.

Harris PC, Hopp K. Harris PC, et al. J Am Soc Nephrol. 2013 May;24(6):868-70. doi: 10.1681/ASN.2013040417. Epub 2013 May 16. J Am Soc Nephrol. 2013. PMID: 23687354 No abstract available.

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