Peretz H - Search Results

1

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

2

Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3.

Mor-Cohen R, Rosenberg N, Peretz H, Landau M, Coller BS, Awidi A, Seligsohn U. Mor-Cohen R, et al. Among authors: peretz h. Thromb Haemost. 2007 Dec;98(6):1257-65. Thromb Haemost. 2007. PMID: 18064323

3

A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.

Rosenberg N, Hauschner H, Peretz H, Mor-Cohen R, Landau M, Shenkman B, Kenet G, Coller BS, Awidi AA, Seligsohn U. Rosenberg N, et al. Among authors: peretz h. J Thromb Haemost. 2005 Dec;3(12):2764-72. doi: 10.1111/j.1538-7836.2005.01618.x. J Thromb Haemost. 2005. PMID: 16359514 Free PMC article.

4

Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.

Nelson EJ, Nair SC, Peretz H, Coller BS, Seligsohn U, Chandy M, Srivastava A. Nelson EJ, et al. Among authors: peretz h. J Thromb Haemost. 2006 Aug;4(8):1730-7. doi: 10.1111/j.1538-7836.2006.02066.x. J Thromb Haemost. 2006. PMID: 16879215 Free article.

5

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.

6

Prenatal diagnosis of Glanzmann thrombasthenia.

Srivastava A, Usher S, Nelson EJ, Jayandharan G, Shaji RV, Chandy M, Seligsohn U, Peretz H. Srivastava A, et al. Among authors: peretz h. Natl Med J India. 2003 Jul-Aug;16(4):207-8. Natl Med J India. 2003. PMID: 14606769

7

Detection of the Glanzmann's thrombasthenia mutations in Arab and Iraqi-Jewish patients by polymerase chain reaction and restriction analysis of blood or urine samples.

Peretz H, Seligsohn U, Zwang E, Coller BS, Newman PJ. Peretz H, et al. Thromb Haemost. 1991 Oct 1;66(4):500-4. Thromb Haemost. 1991. PMID: 1796402

8

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. Blood. 1995 Jan 15;85(2):414-20. Blood. 1995. PMID: 7529063 Free article.

9

Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia.

Seligsohn U, Peretz H. Seligsohn U, et al. Among authors: peretz h. Haemostasis. 1994 Mar-Apr;24(2):81-5. doi: 10.1159/000217088. Haemostasis. 1994. PMID: 7959366 Review.

10

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. 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.

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