Somlo S - Search Results

1

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center; Torres VE, Somlo S, Mirshahi T. Besse W, et al. Among authors: somlo s. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8. J Am Soc Nephrol. 2019. PMID: 31395617 Free PMC article.

2

A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.

Somlo S, Rutecki G, Giuffra LA, Reeders ST, Cugino A, Whittier FC. Somlo S, et al. J Am Soc Nephrol. 1993 Dec;4(6):1371-8. doi: 10.1681/ASN.V461371. J Am Soc Nephrol. 1993. PMID: 8130364

3

A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.

Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, Liang Y, Roscoe J, Brissenden J, Hefferton D, Parfrey P, Somlo S, St George-Hyslop P. Pei Y, et al. Among authors: somlo s. J Am Soc Nephrol. 1998 Oct;9(10):1853-60. doi: 10.1681/ASN.V9101853. J Am Soc Nephrol. 1998. PMID: 9773786 Clinical Trial.

4

Identification and characterization of polycystin-2, the PKD2 gene product.

Cai Y, Maeda Y, Cedzich A, Torres VE, Wu G, Hayashi T, Mochizuki T, Park JH, Witzgall R, Somlo S. Cai Y, et al. Among authors: somlo s. J Biol Chem. 1999 Oct 1;274(40):28557-65. doi: 10.1074/jbc.274.40.28557. J Biol Chem. 1999. PMID: 10497221 Free article.

5

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S. Reynolds DM, et al. Among authors: somlo s. J Am Soc Nephrol. 1999 Nov;10(11):2342-51. doi: 10.1681/ASN.V10112342. J Am Soc Nephrol. 1999. PMID: 10541293

6

The pathogenesis of autosomal dominant polycystic kidney disease: an update.

Somlo S, Markowitz GS. Somlo S, et al. Curr Opin Nephrol Hypertens. 2000 Jul;9(4):385-94. doi: 10.1097/00041552-200007000-00010. Curr Opin Nephrol Hypertens. 2000. PMID: 10926175 Review.

7

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.

Reynolds DM, Falk CT, Li A, King BF, Kamath PS, Huston J 3rd, Shub C, Iglesias DM, Martin RS, Pirson Y, Torres VE, Somlo S. Reynolds DM, et al. Among authors: somlo s. Am J Hum Genet. 2000 Dec;67(6):1598-604. doi: 10.1086/316904. Epub 2000 Oct 23. Am J Hum Genet. 2000. PMID: 11047756 Free PMC article.

8

Vascular expression of polycystin-2.

Torres VE, Cai Y, Chen XI, Wu GQ, Geng L, Cleghorn KA, Johnson CM, Somlo S. Torres VE, et al. Among authors: somlo s. J Am Soc Nephrol. 2001 Jan;12(1):1-9. doi: 10.1681/ASN.V1211. J Am Soc Nephrol. 2001. PMID: 11134244

9

Genetics and pathogenesis of polycystic kidney disease.

Igarashi P, Somlo S. Igarashi P, et al. Among authors: somlo s. J Am Soc Nephrol. 2002 Sep;13(9):2384-98. doi: 10.1097/01.asn.0000028643.17901.42. J Am Soc Nephrol. 2002. PMID: 12191984 Review. No abstract available.

10

Clinical profile of autosomal dominant polycystic liver disease.

Qian Q, Li A, King BF, Kamath PS, Lager DJ, Huston J 3rd, Shub C, Davila S, Somlo S, Torres VE. Qian Q, et al. Among authors: somlo s. Hepatology. 2003 Jan;37(1):164-71. doi: 10.1053/jhep.2003.50006. Hepatology. 2003. PMID: 12500201

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