Levy-Lahad E - Search Results

1

Copy number variations in cryptogenic cerebral palsy.

Segel R, Ben-Pazi H, Zeligson S, Fatal-Valevski A, Aran A, Gross-Tsur V, Schneebaum-Sender N, Shmueli D, Lev D, Perlberg S, Blumkin L, Deutsch L, Levy-Lahad E. Segel R, et al. Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27. Neurology. 2015. PMID: 25817843

2

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.

3

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS. Segel R, et al. Am J Med Genet A. 2009 Nov;149A(11):2457-63. doi: 10.1002/ajmg.a.33038. Am J Med Genet A. 2009. PMID: 19839040

4

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.

5

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.

6

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.

7

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.

Breuer O, Abdulhadi-Atwan M, Zeligson S, Fridman H, Renbaum P, Levy-Lahad E, Zangen DH. Breuer O, et al. Eur J Endocrinol. 2012 Aug;167(2):209-16. doi: 10.1530/EJE-12-0127. Epub 2012 May 22. Eur J Endocrinol. 2012. PMID: 22619348

8

Snord 3A: a molecular marker and modulator of prion disease progression.

Cohen E, Avrahami D, Frid K, Canello T, Levy Lahad E, Zeligson S, Perlberg S, Chapman J, Cohen OS, Kahana E, Lavon I, Gabizon R. Cohen E, et al. PLoS One. 2013;8(1):e54433. doi: 10.1371/journal.pone.0054433. Epub 2013 Jan 21. PLoS One. 2013. PMID: 23349890 Free PMC article.

9

Mutant ADA2 in vasculopathies.

Segel R, King MC, Levy-Lahad E. Segel R, et al. N Engl J Med. 2014 Jul 31;371(5):481. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25083540 No abstract available.

10

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

Vinograd-Byk H, Sapir T, Cantarero L, Lazo PA, Zeligson S, Lev D, Lerman-Sagie T, Renbaum P, Reiner O, Levy-Lahad E. Vinograd-Byk H, et al. J Neurosci. 2015 Jan 21;35(3):936-42. doi: 10.1523/JNEUROSCI.1998-14.2015. J Neurosci. 2015. PMID: 25609612 Free PMC article.

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