Harris PC - Search Results

1

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: harris pc. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.

2

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

Peral B, Gamble V, San Millán JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC. Peral B, et al. Among authors: harris pc. Hum Mol Genet. 1995 Apr;4(4):569-74. doi: 10.1093/hmg/4.4.569. Hum Mol Genet. 1995. PMID: 7633405

3

Haplotype analysis in autosomal dominant polycystic kidney disease.

Pound SE, Thomas S, Snarey A, Macnicol AM, Watson ML, Pignatelli PM, Frischauf AM, Harris PC, Wright AF. Pound SE, et al. Among authors: harris pc. J Med Genet. 1995 Mar;32(3):208-12. doi: 10.1136/jmg.32.3.208. J Med Genet. 1995. PMID: 7783171 Free PMC article.

4

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

Peral B, Ward CJ, San Millán JL, Thomas S, Stallings RL, Moreno F, Harris PC. Peral B, et al. Among authors: harris pc. Am J Hum Genet. 1994 May;54(5):899-908. Am J Hum Genet. 1994. PMID: 7909986 Free PMC article.

5

Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus.

Viribay M, Ferreira R, Peral B, Bello D, Ward CJ, Dávalos J, Valle C, Harris PC, Méndez del Castillo D, Moreno F, et al. Viribay M, et al. Among authors: harris pc. Hum Genet. 1994 Oct;94(4):432-6. doi: 10.1007/BF00201607. Hum Genet. 1994. PMID: 7927343

6

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

Snarey A, Thomas S, Schneider MC, Pound SE, Barton N, Wright AF, Somlo S, Germino GG, Harris PC, Reeders ST, et al. Snarey A, et al. Among authors: harris pc. Am J Hum Genet. 1994 Aug;55(2):365-71. Am J Hum Genet. 1994. PMID: 8037213 Free PMC article.

7

Autosomal dominant polycystic kidney disease: molecular analysis.

Harris PC, Ward CJ, Peral B, Hughes J. Harris PC, et al. Hum Mol Genet. 1995;4 Spec No:1745-9. doi: 10.1093/hmg/4.suppl_1.1745. Hum Mol Genet. 1995. PMID: 8541874 Review.

8

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Peral B, San Millán JL, Ong AC, Gamble V, Ward CJ, Strong C, Harris PC. Peral B, et al. Among authors: harris pc. Am J Hum Genet. 1996 Jan;58(1):86-96. Am J Hum Genet. 1996. PMID: 8554072 Free PMC article.

9

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

Peral B, Ong AC, San Millán JL, Gamble V, Rees L, Harris PC. Peral B, et al. Among authors: harris pc. Hum Mol Genet. 1996 Apr;5(4):539-42. doi: 10.1093/hmg/5.4.539. Hum Mol Genet. 1996. PMID: 8845849

10

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC. Peral B, et al. Among authors: harris pc. Am J Hum Genet. 1997 Jun;60(6):1399-410. doi: 10.1086/515467. Am J Hum Genet. 1997. PMID: 9199561 Free PMC article.

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