Peleg L - Search Results

1

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.

Zuckerman S, Lahad A, Shmueli A, Zimran A, Peleg L, Orr-Urtreger A, Levy-Lahad E, Sagi M. Zuckerman S, et al. Among authors: peleg l. JAMA. 2007 Sep 19;298(11):1281-90. doi: 10.1001/jama.298.11.1281. JAMA. 2007. PMID: 17878420

2

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.

Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N. Horowitz M, et al. Among authors: peleg l. Hum Mutat. 1998;12(4):240-4. doi: 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J. Hum Mutat. 1998. PMID: 9744474

3

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Sagiv N, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Valevski A, Stern N. Osher E, et al. Among authors: peleg l. Orphanet J Rare Dis. 2015 Apr 17;10:45. doi: 10.1186/s13023-015-0260-7. Orphanet J Rare Dis. 2015. PMID: 25896637 Free PMC article. Clinical Trial.

4

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.

Peleg L, Frisch A, Goldman B, Karpaty M, Narinsky R, Bronstein S, Frydman M. Peleg L, et al. Eur J Hum Genet. 1998 Mar-Apr;6(2):185-6. doi: 10.1038/sj.ejhg.5200176. Eur J Hum Genet. 1998. PMID: 9781065

5

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs.

Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Amir-Levi Y, Katzburg S, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Stern N, Valevski A. Osher E, et al. Among authors: peleg l. Mol Genet Metab. 2011 Mar;102(3):356-63. doi: 10.1016/j.ymgme.2010.11.163. Epub 2010 Dec 4. Mol Genet Metab. 2011. PMID: 21185210 Clinical Trial.

6

An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.

Bronstein S, Karpati M, Peleg L. Bronstein S, et al. Among authors: peleg l. Isr Med Assoc J. 2014 Nov;16(11):683-5. Isr Med Assoc J. 2014. PMID: 25558695 Free article.

7

The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.

Peleg L, Karpati M, Bronstein S, Berkenstadt M, Frydman M, Yonath H, Pras E. Peleg L, et al. J Med Screen. 2011;18(4):169-72. doi: 10.1258/jms.2011.011044. Epub 2011 Dec 7. J Med Screen. 2011. PMID: 22156145

8

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

Goldstein N, Cohen Y, Pode-Shakked B, Sigalov E, Vilensky B, Peleg L, Anikster Y. Goldstein N, et al. Among authors: peleg l. Mol Genet Metab. 2011 Feb;102(2):157-60. doi: 10.1016/j.ymgme.2010.10.007. Epub 2010 Oct 20. Mol Genet Metab. 2011. PMID: 21059483

9

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R. Kaufman M, et al. Among authors: peleg l. Hum Mutat. 1997;10(4):295-300. doi: 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G. Hum Mutat. 1997. PMID: 9338583

10

Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.

Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. Berkenstadt M, et al. Among authors: peleg l. Prenat Diagn. 2007 Nov;27(11):991-4. doi: 10.1002/pd.1815. Prenat Diagn. 2007. PMID: 17705235

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