Peretz H - Search Results

1

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B. Yakobson E, et al. Among authors: peretz h. Eur J Hum Genet. 2003 Apr;11(4):288-96. doi: 10.1038/sj.ejhg.5200961. Eur J Hum Genet. 2003. PMID: 12700603

2

Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families.

Yakobson E, Shemesh P, Azizi E, Winkler E, Lassam N, Hogg D, Brookes S, Peters G, Lotem M, Zlotogorski A, Landau M, Safro M, Shafir R, Friedman E, Peretz H. Yakobson E, et al. Among authors: peretz h. Eur J Hum Genet. 2000 Aug;8(8):590-6. doi: 10.1038/sj.ejhg.5200505. Eur J Hum Genet. 2000. PMID: 10951521

3

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: peretz h. Clin Chem Lab Med. 1998 Aug;36(8):645-8. doi: 10.1515/CCLM.1998.114. Clin Chem Lab Med. 1998. PMID: 9806478

4

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. 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

5

Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population.

Loo JC, Paterson AD, Hao A, Shennan M, Peretz H, Sidi Y, Hogg D, Yakobson E. Loo JC, et al. Among authors: peretz h. J Med Genet. 2005 May;42(5):e30. doi: 10.1136/jmg.2004.027300. J Med Genet. 2005. PMID: 15863662 Free PMC article. No abstract available.

6

Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus.

Rosenberg N, Yatuv R, Sobolev V, Peretz H, Zivelin A, Seligsohn U. Rosenberg N, et al. Among authors: peretz h. Blood. 2003 Jun 15;101(12):4808-15. doi: 10.1182/blood-2002-08-2452. Epub 2003 Feb 27. Blood. 2003. PMID: 12609844 Free article.

7

XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H. Levartovsky D, et al. Among authors: peretz h. Kidney Int. 2000 Jun;57(6):2215-20. doi: 10.1046/j.1523-1755.2000.00082.x. Kidney Int. 2000. PMID: 10844591 Free article.

8

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: peretz h. Blood. 1999 Sep 15;94(6):2039-47. Blood. 1999. PMID: 10477733 Free article.

9

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. J Thromb Haemost. 2013 Apr;11(4):724-30. doi: 10.1111/jth.12137. J Thromb Haemost. 2013. PMID: 23332144 Free article.

10

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).

Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, Coller BS, Srivastava A, Seligsohn U. Peretz H, et al. Hum Mutat. 2006 Apr;27(4):359-69. doi: 10.1002/humu.20304. Hum Mutat. 2006. PMID: 16463284

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