Somlo S - Search Results

1

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S. Furu L, et al. Among authors: somlo s. J Am Soc Nephrol. 2003 Aug;14(8):2004-14. doi: 10.1097/01.asn.0000078805.87038.05. J Am Soc Nephrol. 2003. PMID: 12874454

2

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.

Somlo S, Wirth B, Germino GG, Weinstat-Saslow D, Gillespie GA, Himmelbauer H, Steevens L, Coucke P, Willems P, Bachner L, et al. Somlo S, et al. Genomics. 1992 May;13(1):152-8. doi: 10.1016/0888-7543(92)90215-e. Genomics. 1992. PMID: 1349570

3

Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).

Himmelbauer H, Pohlschmidt M, Snarey A, Germino GG, Weinstat-Saslow D, Somlo S, Reeders ST, Frischauf AM. Himmelbauer H, et al. Among authors: somlo s. Genomics. 1992 May;13(1):35-8. doi: 10.1016/0888-7543(92)90198-2. Genomics. 1992. PMID: 1349580

4

A positional cloning approach to inherited renal disease.

Germino GG, Somlo S. Germino GG, et al. Among authors: somlo s. Semin Nephrol. 1992 Nov;12(6):541-53. Semin Nephrol. 1992. PMID: 1475549 Review. No abstract available.

5

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.

Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GA, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM, Reeders ST. Germino GG, et al. Among authors: somlo s. Genomics. 1992 May;13(1):144-51. doi: 10.1016/0888-7543(92)90214-d. Genomics. 1992. PMID: 1577479

6

The molecular genetics of autosomal-dominant polycystic kidney disease of the PKD1 type.

Somlo S, Germino GG, Wirth B, Weinstat-Saslow D, Barton N, Gillespie GA, Frischauf AM, Reeders ST. Somlo S, et al. Contrib Nephrol. 1992;97:101-9. doi: 10.1159/000421648. Contrib Nephrol. 1992. PMID: 1633710 Review. No abstract available.

7

CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.

Gillespie GA, Somlo S, Germino GG, Weinstat-Saslow D, Reeders ST. Gillespie GA, et al. Among authors: somlo s. Proc Natl Acad Sci U S A. 1991 May 15;88(10):4289-93. doi: 10.1073/pnas.88.10.4289. Proc Natl Acad Sci U S A. 1991. PMID: 1709739 Free PMC article.

8

Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands.

Gillespie GA, Germino GG, Somlo S, Weinstat-Saslow D, Breuning MH, Reeders ST. Gillespie GA, et al. Among authors: somlo s. Nucleic Acids Res. 1990 Dec 11;18(23):7071-5. doi: 10.1093/nar/18.23.7071. Nucleic Acids Res. 1990. PMID: 1979857 Free PMC article.

9

Inherited diseases of the kidney.

Germino GG, Somlo S. Germino GG, et al. Among authors: somlo s. Curr Opin Nephrol Hypertens. 1993 May;2(3):430-40. doi: 10.1097/00041552-199305000-00011. Curr Opin Nephrol Hypertens. 1993. PMID: 7922203 Review.

10

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: somlo s. Am J Hum Genet. 1994 Aug;55(2):365-71. Am J Hum Genet. 1994. PMID: 8037213 Free PMC article.

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