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Items: 1 to 20 of 124

1.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D.

J Clin Invest. 2015 Nov 2;125(11):4295-304. doi: 10.1172/JCI83553. Epub 2015 Oct 20.

2.

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.

Epsztejn-Litman S, Cohen-Hadad Y, Aharoni S, Altarescu G, Renbaum P, Levy-Lahad E, Schonberger O, Eldar-Geva T, Zeligson S, Eiges R.

PLoS One. 2015 Oct 16;10(10):e0138893. doi: 10.1371/journal.pone.0138893. eCollection 2015.

3.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A.

J Clin Invest. 2015 Oct 1;125(10):3757-65. doi: 10.1172/JCI79322. Epub 2015 Aug 31.

4.

Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing.

Altarescu G, Beeri R, Lazer-Derbeko G, Eldar-Geva T, Steinberg A, Levy-Lahad E, Renbaum P.

Reprod Biomed Online. 2015 Nov;31(5):706-10. doi: 10.1016/j.rbmo.2015.07.002. Epub 2015 Jul 17.

PMID:
26380867
5.

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.

PLoS One. 2015 Jul 31;10(7):e0134120. doi: 10.1371/journal.pone.0134120. eCollection 2015.

6.

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells.

Yanovsky-Dagan S, Avitzour M, Altarescu G, Renbaum P, Eldar-Geva T, Schonberger O, Mitrani-Rosenbaum S, Levy-Lahad E, Birnbaum RY, Gepstein L, Epsztejn-Litman S, Eiges R.

Stem Cell Reports. 2015 Aug 11;5(2):221-31. doi: 10.1016/j.stemcr.2015.06.003. Epub 2015 Jul 16.

7.

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.

J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12.

PMID:
26070314
8.

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle.

Cantarero L, Sanz-García M, Vinograd-Byk H, Renbaum P, Levy-Lahad E, Lazo PA.

Sci Rep. 2015 Jun 12;5:10543. doi: 10.1038/srep10543.

9.

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 Jun;52(6):391-9. doi: 10.1136/jmedgenet-2014-102921. Epub 2015 Apr 14.

PMID:
25873734
10.

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
11.

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. 2016;22(4):458-71. doi: 10.1080/09297049.2015.1014900. Epub 2015 Mar 16.

PMID:
25774437
12.

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
13.

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.

14.

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.

15.

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.

16.

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
17.

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.

18.

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
19.

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
20.

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.

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