Usher S - Search Results

1

Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.

Goldstein DB, Reich DE, Bradman N, Usher S, Seligsohn U, Peretz H. Goldstein DB, et al. Among authors: usher s. Am J Hum Genet. 1999 Apr;64(4):1071-5. doi: 10.1086/302313. Am J Hum Genet. 1999. PMID: 10090892 Free PMC article.

2

A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency.

Peretz H, Zivelin A, Usher S, Seligsohn U. Peretz H, et al. Among authors: usher s. Hum Mutat. 1996;8(1):77-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<77::AID-HUMU12>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8807341 No abstract available.

3

The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.

Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, Mittelman M, Lupo H, Lanir N, Brenner B, Shpilberg O, Seligsohn U. Peretz H, et al. Among authors: usher s. Blood. 1997 Oct 1;90(7):2654-9. Blood. 1997. PMID: 9326232 Free article.

4

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.

Peretz H, Salomon O, Mor-Cohen R, Usher S, Zucker M, Zivelin A, Seligsohn U. Peretz H, et al. Among authors: usher s. J Thromb Haemost. 2013 Apr;11(4):724-30. doi: 10.1111/jth.12137. J Thromb Haemost. 2013. PMID: 23332144 Free article.

5

The human platelet alphaIIb gene is not closely linked to its integrin partner beta3.

Thornton MA, Poncz M, Korostishevsky M, Yakobson E, Usher S, Seligsohn U, Peretz H. Thornton MA, et al. Among authors: usher s. Blood. 1999 Sep 15;94(6):2039-47. Blood. 1999. PMID: 10477733 Free article.

6

Factor VIII gene rearrangement in hemophilia A carrier detection: a word of caution.

Peretz H, Usher S, Martinovitz U, Seligsohn U. Peretz H, et al. Among authors: usher s. Blood. 1994 Aug 15;84(4):1351-2. Blood. 1994. PMID: 7914105 Free article. No abstract available.

7

Screening for tumour suppressor p16(CDKN2A) germline mutations in Israeli melanoma families.

Yakobson EA, Zlotogorski A, Shafir R, Cohen M, Icekson M, Landau M, Brenner S, Usher S, Peretz H. Yakobson EA, et al. Among authors: usher s. Clin Chem Lab Med. 1998 Aug;36(8):645-8. doi: 10.1515/CCLM.1998.114. Clin Chem Lab Med. 1998. PMID: 9806478

8

Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.

Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M. Peretz H, et al. Among authors: usher s. Hum Mutat. 1997;10(2):155-9. doi: 10.1002/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 1997. PMID: 9259198

9

Current strategy for genetic analysis of haemophilia A families.

Dardik R, Peretz H, Usher S, Seligsohn U, Martinowitz U. Dardik R, et al. Among authors: usher s. Haemophilia. 1996 Jan;2(1):11-7. doi: 10.1111/j.1365-2516.1996.tb00003.x. Haemophilia. 1996. PMID: 27213899

10

Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.

Peretz H, Rosenberg N, Usher S, Graff E, Newman PJ, Coller BS, Seligsohn U. Peretz H, et al. Among authors: usher s. Blood. 1995 Jan 15;85(2):414-20. Blood. 1995. PMID: 7529063 Free article.

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