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Results: 1 to 20 of 115

1.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D.

J Med Genet. 2015 Apr 14. pii: jmedgenet-2014-102921. doi: 10.1136/jmedgenet-2014-102921. [Epub ahead of print]

PMID:
25873734
2.

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.

Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27.

PMID:
25817843
3.

Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study.

Sacks GC, Altarescu G, Guedalia J, Varshaver I, Gilboa T, Levy-Lahad E, Eldar-Geva T.

Child Neuropsychol. 2015 Mar 16:1-14. [Epub ahead of print]

PMID:
25774437
4.

Proposed shift in screening for breast cancer--reply.

King MC, Lahad A, Levy-Lahad E.

JAMA. 2015 Feb 3;313(5):525-6. doi: 10.1001/jama.2014.17442. No abstract available.

PMID:
25647216
5.

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
6.

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
7.

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.

8.

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
9.

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.

10.

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
11.

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
12.

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;124(5):2071-5. Epub 2014 Apr 8.

13.

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. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30.

PMID:
24805811
14.

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.

15.

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
16.

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.

17.

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.

18.

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.

19.

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
20.

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.

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