Levy-Lahad E - Search Results

1

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E. Pierce SB, et al. Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541342 Free PMC article.

2

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Shaag A, et al. Hum Mol Genet. 2005 Feb 15;14(4):555-63. doi: 10.1093/hmg/ddi052. Epub 2005 Jan 13. Hum Mol Genet. 2005. PMID: 15649950

3

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population.

Simchoni S, Friedman E, Kaufman B, Gershoni-Baruch R, Orr-Urtreger A, Kedar-Barnes I, Shiri-Sverdlov R, Dagan E, Tsabari S, Shohat M, Catane R, King MC, Lahad A, Levy-Lahad E. Simchoni S, et al. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3770-4. doi: 10.1073/pnas.0511301103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537453 Free PMC article.

4

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Renbaum P, et al. Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646678 Free PMC article.

5

Collaborative genomics for human health and cooperation in the Mediterranean region.

Ozçelik T, Kanaan M, Avraham KB, Yannoukakos D, Mégarbané A, Tadmouri GO, Middleton L, Romeo G, King MC, Levy-Lahad E. Ozçelik T, et al. Nat Genet. 2010 Aug;42(8):641-5. doi: 10.1038/ng0810-641. Nat Genet. 2010. PMID: 20664644

6

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Pierce SB, et al. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673864 Free PMC article.

7

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Brownstein Z, et al. Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89. Genome Biol. 2011. PMID: 21917145 Free PMC article.

8

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Zangen D, et al. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29. Am J Hum Genet. 2011. PMID: 21963259 Free PMC article.

9

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. Ben-Neriah Z, et al. Am J Med Genet A. 2011 Nov;155A(11):2801-6. doi: 10.1002/ajmg.a.34240. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990102

10

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG. Pierce SB, et al. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31. Proc Natl Acad Sci U S A. 2011. PMID: 22042873 Free PMC article.

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