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Results: 1 to 20 of 111

1.

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.

J Neurosci. 2015 Jan 21;35(3):936-42. doi: 10.1523/JNEUROSCI.1998-14.2015.

PMID:
25609612
[PubMed - in process]
2.

Precision medicine meets public health: population screening for BRCA1 and BRCA2.

Levy-Lahad E, Lahad A, King MC.

J Natl Cancer Inst. 2014 Dec 30;107(1):420. doi: 10.1093/jnci/dju420. Print 2015 Jan. No abstract available.

PMID:
25550384
[PubMed - in process]
3.

FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells.

Avitzour M, Mor-Shaked H, Yanovsky-Dagan S, Aharoni S, Altarescu G, Renbaum P, Eldar-Geva T, Schonberger O, Levy-Lahad E, Epsztejn-Litman S, Eiges R.

Stem Cell Reports. 2014 Nov 11;3(5):699-706. doi: 10.1016/j.stemcr.2014.09.001. Epub 2014 Oct 3.

PMID:
25418717
[PubMed - in process]
Free PMC Article
4.

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.

King MC, Levy-Lahad E, Lahad A.

JAMA. 2014 Sep 17;312(11):1091-2. doi: 10.1001/jama.2014.12483. No abstract available.

PMID:
25198398
[PubMed - indexed for MEDLINE]
5.

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.

Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.

PMID:
25192939
[PubMed - in process]
6.

Mutant ADA2 in vasculopathies.

Segel R, King MC, Levy-Lahad E.

N Engl J Med. 2014 Jul 31;371(5):481. No abstract available.

PMID:
25083540
[PubMed - indexed for MEDLINE]
7.

Neonatal outcome after preimplantation genetic diagnosis.

Eldar-Geva T, Srebnik N, Altarescu G, Varshaver I, Brooks B, Levy-Lahad E, Bromiker R, Schimmel MS.

Fertil Steril. 2014 Oct;102(4):1016-21. doi: 10.1016/j.fertnstert.2014.06.023. Epub 2014 Jul 23.

PMID:
25064409
[PubMed - indexed for MEDLINE]
8.

Testicular differentiation factor SF-1 is required for human spleen development.

Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E.

J Clin Invest. 2014 May 1;124(5):2071-5. Epub 2014 Apr 8.

PMID:
24905461
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.

Clin Genet. 2014 May 7. doi: 10.1111/cge.12420. [Epub ahead of print]

PMID:
24805811
[PubMed - as supplied by publisher]
10.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E.

N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.

PMID:
24552285
[PubMed - indexed for MEDLINE]
Free Article
11.

BRCA mutation carriers do not have compromised ovarian reserve.

Michaelson-Cohen R, Mor P, Srebnik N, Beller U, Levy-Lahad E, Eldar-Geva T.

Int J Gynecol Cancer. 2014 Feb;24(2):233-7. doi: 10.1097/IGC.0000000000000058.

PMID:
24378620
[PubMed - indexed for MEDLINE]
12.

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.

Curd H, Lewis S, Macciocca I, Sahhar M, Petrou V, Bankier A, Lieberman S, Levy-Lahad E, Delatycki MB.

J Community Genet. 2014 Apr;5(2):139-46. doi: 10.1007/s12687-013-0163-z. Epub 2013 Jul 27.

PMID:
23893770
[PubMed]
Free PMC Article
13.

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.

J Assist Reprod Genet. 2013 Dec;30(12):1595-603. doi: 10.1007/s10815-013-0044-8. Epub 2013 Jul 6.

PMID:
23832269
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28.

PMID:
23541342
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay.

Zeevi DA, Renbaum P, Ron-El R, Eldar-Geva T, Raziel A, Brooks B, Strassburger D, Margalioth EJ, Levy-Lahad E, Altarescu G.

Hum Mutat. 2013 May;34(5):792-9. doi: 10.1002/humu.22298. Epub 2013 Mar 19.

PMID:
23420578
[PubMed - indexed for MEDLINE]
16.

Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription.

Duplan E, Sevalle J, Viotti J, Goiran T, Bauer C, Renbaum P, Levy-Lahad E, Gautier CA, Corti O, Leroudier N, Checler F, da Costa CA.

J Mol Cell Biol. 2013 Apr;5(2):132-42. doi: 10.1093/jmcb/mjt003. Epub 2013 Jan 28.

PMID:
23359614
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PLoS One. 2013;8(1):e54433. doi: 10.1371/journal.pone.0054433. Epub 2013 Jan 21.

PMID:
23349890
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Altarescu G, Beeri R, Eiges R, Epsztejn-Litman S, Eldar-Geva T, Elstein D, Zimran A, Margalioth EJ, Levy-Lahad E, Renbaum P.

Mol Biol Int. 2012;2012:797342. doi: 10.1155/2012/797342. Epub 2012 Dec 26.

PMID:
23320174
[PubMed]
Free PMC Article
19.

PGD for germline mosaicism.

Altarescu G, Beeri R, Eldar-Geva T, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P.

Reprod Biomed Online. 2012 Oct;25(4):390-5. doi: 10.1016/j.rbmo.2012.07.003. Epub 2012 Jul 20.

PMID:
22884613
[PubMed - indexed for MEDLINE]
20.

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.

Eur J Endocrinol. 2012 Aug;167(2):209-16. doi: 10.1530/EJE-12-0127. Epub 2012 May 22.

PMID:
22619348
[PubMed - indexed for MEDLINE]
Free Article

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