Zeligson S - 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. Among authors: zeligson s. Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27. Neurology. 2015. PMID: 25817843

2

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y. Belostotsky R, et al. Among authors: zeligson s. Am J Hum Genet. 2011 Feb 11;88(2):193-200. doi: 10.1016/j.ajhg.2010.12.010. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255763 Free PMC article.

3

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. Among authors: zeligson s. 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.

4

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. Among authors: zeligson s. 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.

5

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. Among authors: zeligson s. 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

6

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. Among authors: zeligson s. PLoS One. 2013;8(1):e54433. doi: 10.1371/journal.pone.0054433. Epub 2013 Jan 21. PLoS One. 2013. PMID: 23349890 Free PMC article.

7

Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study.

Altarescu G, Zeevi DA, Zeligson S, Perlberg S, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, Renbaum P. Altarescu G, et al. Among authors: zeligson s. J Assist Reprod Genet. 2013 Dec;30(12):1595-603. doi: 10.1007/s10815-013-0044-8. Epub 2013 Jul 6. J Assist Reprod Genet. 2013. PMID: 23832269 Free PMC article.

8

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. Among authors: zeligson s. J Neurosci. 2015 Jan 21;35(3):936-42. doi: 10.1523/JNEUROSCI.1998-14.2015. J Neurosci. 2015. PMID: 25609612 Free PMC article.

9

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. Among authors: zeligson s. J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12. J Med Genet. 2015. PMID: 26070314

10

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair.

Gazy I, Zeevi DA, Renbaum P, Zeligson S, Eini L, Bashari D, Smith Y, Lahad A, Goldberg M, Ginsberg D, Levy-Lahad E. Gazy I, et al. Among authors: zeligson s. PLoS One. 2015 Jul 31;10(7):e0134120. doi: 10.1371/journal.pone.0134120. eCollection 2015. PLoS One. 2015. PMID: 26230935 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

44 results

Search Page