Levran O - Search Results

1

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC. Pereira L, et al. Among authors: levran o. N Engl J Med. 1994 Jul 21;331(3):148-53. doi: 10.1056/NEJM199407213310302. N Engl J Med. 1994. PMID: 8008028 Free article.

2

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).

Schuchman EH, Levran O, Pereira LV, Desnick RJ. Schuchman EH, et al. Among authors: levran o. Genomics. 1992 Feb;12(2):197-205. doi: 10.1016/0888-7543(92)90366-z. Genomics. 1992. PMID: 1740330

3

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3748-52. doi: 10.1073/pnas.88.9.3748. Proc Natl Acad Sci U S A. 1991. PMID: 2023926 Free PMC article.

4

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Blood. 1992 Oct 15;80(8):2081-7. Blood. 1992. PMID: 1391960 Free article.

5

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. J Clin Invest. 1991 Sep;88(3):806-10. doi: 10.1172/JCI115380. J Clin Invest. 1991. PMID: 1885770 Free PMC article.

6

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Hum Mol Genet. 1993 Feb;2(2):205-6. doi: 10.1093/hmg/2.2.205. Hum Mol Genet. 1993. PMID: 8499909 No abstract available.

7

An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).

Schuchman EH, Levran O, Suchi M, Desnick RJ. Schuchman EH, et al. Among authors: levran o. Nucleic Acids Res. 1991 Jun 11;19(11):3160. doi: 10.1093/nar/19.11.3160. Nucleic Acids Res. 1991. PMID: 1711683 Free PMC article. No abstract available.

8

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Hum Mutat. 1993;2(4):317-9. doi: 10.1002/humu.1380020414. Hum Mutat. 1993. PMID: 8401540 No abstract available.

9

Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

Levran O, Doggett NA, Auerbach AD. Levran O, et al. Hum Mutat. 1998;12(3):145-52. doi: 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G. Hum Mutat. 1998. PMID: 9711872

10

The genomic organization of the Fanconi anemia group A (FAA) gene.

Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD, Cleton-Jansen AM, Doggett NA, Pronk JC, Tipping AJ, Gibson RA, Mathew CG, Whitmore SA, Apostolou S, Callen DF, Zelante L, Savoia A. Ianzano L, et al. Among authors: levran o. Genomics. 1997 May 1;41(3):309-14. doi: 10.1006/geno.1997.4675. Genomics. 1997. PMID: 9169126

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