Reshef A - Search Results

1

Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.

Reshef A, Meiner V, Dann EJ, Granat M, Leitersdorf E. Reshef A, et al. Hum Genet. 1992 May;89(2):237-9. doi: 10.1007/BF00217130. Hum Genet. 1992. PMID: 1350266

2

Haplotype analysis at the low density lipoprotein receptor locus: application to the study of familial hypercholesterolemia in Israel.

Berkman N, Weir BS, Pressman-Schwartz S, Reshef A, Leitersdorf E. Berkman N, et al. Among authors: reshef a. Hum Genet. 1992 Feb;88(4):405-10. doi: 10.1007/BF00215674. Hum Genet. 1992. PMID: 1346772

3

A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E. Landsberger D, et al. Among authors: reshef a. Am J Hum Genet. 1992 Feb;50(2):427-33. Am J Hum Genet. 1992. PMID: 1734722 Free PMC article.

4

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E. Meiner V, et al. Among authors: reshef a. Am J Hum Genet. 1991 Aug;49(2):443-9. Am J Hum Genet. 1991. PMID: 1867200 Free PMC article.

5

Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.

Leitersdorf E, Safadi R, Meiner V, Reshef A, Björkhem I, Friedlander Y, Morkos S, Berginer VM. Leitersdorf E, et al. Among authors: reshef a. Am J Hum Genet. 1994 Nov;55(5):907-15. Am J Hum Genet. 1994. PMID: 7977352 Free PMC article.

6

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family.

Meiner V, Marais DA, Reshef A, Björkhem I, Leitersdorf E. Meiner V, et al. Among authors: reshef a. Hum Mol Genet. 1994 Jan;3(1):193-4. doi: 10.1093/hmg/3.1.193. Hum Mol Genet. 1994. PMID: 8162025 No abstract available.

7

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

Leitersdorf E, Reshef A, Meiner V, Dann EJ, Beigel Y, van Roggen FG, van der Westhuyzen DR, Coetzee GA. Leitersdorf E, et al. Among authors: reshef a. Hum Genet. 1993 Mar;91(2):141-7. doi: 10.1007/BF00222714. Hum Genet. 1993. PMID: 8462973

8

Molecular genetics of familial hypercholesterolemia in Israel.

Reshef A, Nissen H, Triger L, Hensen TS, Eliav O, Schurr D, Safadi R, Gare M, Leitersdorf E. Reshef A, et al. Hum Genet. 1996 Nov;98(5):581-6. doi: 10.1007/s004390050263. Hum Genet. 1996. PMID: 8882879

9

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family.

Segev H, Reshef A, Clavey V, Delbart C, Routier G, Leitersdorf E. Segev H, et al. Among authors: reshef a. Hum Genet. 1995 Feb;95(2):238-40. doi: 10.1007/BF00209413. Hum Genet. 1995. PMID: 7860076

10

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

Reshef A, Meiner V, Berginer VM, Leitersdorf E. Reshef A, et al. J Lipid Res. 1994 Mar;35(3):478-83. J Lipid Res. 1994. PMID: 8014582 Free article.

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