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Items: 10

1.

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.

Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2011 Apr;155A(4):938-9. doi: 10.1002/ajmg.a.33871. Epub 2011 Mar 15. No abstract available.

PMID:
21412972
2.

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563.

PMID:
20683993
3.

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.

Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM.

Ann Hum Genet. 2010 Mar;74(2):117-25. doi: 10.1111/j.1469-1809.2009.00559.x. Epub 2010 Jan 8.

4.

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Reish O, Borochowitz ZU, Adir V, Shohat M, Karpati M, Shtorch A, Orr-Urtreger A, Yaron Y, Shalev S, Fares F, Gershoni-Baruch R, Falik-Zaccai TC, Chapman-Shimshoni D.

Genet Med. 2009 Feb;11(2):101-3. doi: 10.1097/GIM.0b013e31818efd59.

PMID:
19265749
5.

Bacteriophage T4-encoded Stp can be replaced as activator of anticodon nuclease by a normal host cell metabolite.

Amitsur M, Benjamin S, Rosner R, Chapman-Shimshoni D, Meidler R, Blanga S, Kaufmann G.

Mol Microbiol. 2003 Oct;50(1):129-43.

6.

Simvastatin induces apoptosis of B-CLL cells by activation of mitochondrial caspase 9.

Chapman-Shimshoni D, Yuklea M, Radnay J, Shapiro H, Lishner M.

Exp Hematol. 2003 Sep;31(9):779-83.

PMID:
12962723
7.

Yeast exocytic v-SNAREs confer endocytosis.

Gurunathan S, Chapman-Shimshoni D, Trajkovic S, Gerst JE.

Mol Biol Cell. 2000 Oct;11(10):3629-43.

8.

Regulation of cell size by glucose is exerted via repression of the CLN1 promoter.

Flick K, Chapman-Shimshoni D, Stuart D, Guaderrama M, Wittenberg C.

Mol Cell Biol. 1998 May;18(5):2492-501. Erratum in: Mol Cell Biol 1998 Jul;18(7):4407.

9.

Functional expression and properties of the tRNA(Lys)-specific core anticodon nuclease encoded by Escherichia coli prrC.

Morad I, Chapman-Shimshoni D, Amitsur M, Kaufmann G.

J Biol Chem. 1993 Dec 25;268(36):26842-9.

10.

HSD restriction-modification proteins partake in latent anticodon nuclease.

Amitsur M, Morad I, Chapman-Shimshoni D, Kaufmann G.

EMBO J. 1992 Aug;11(8):3129-34.

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