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Results: 1 to 20 of 104

1.

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
2.

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]
3.

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]
4.

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 - in process]
5.

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
6.

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]
7.

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
8.

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]
9.

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
10.

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
11.

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
12.

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]
13.

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
14.

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening.

Shkedi-Rafid S, Gabai-Kapara E, Grinshpun-Cohen J, Levy-Lahad E.

Genet Med. 2012 Jul;14(7):688-94.

PMID:
22481128
[PubMed - indexed for MEDLINE]
15.

Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies.

Altarescu G, Eldar-Geva T, Grisaru-Granovsky S, Bonstein L, Miskin H, Varshver I, Margalioth EJ, Levy-Lahad E, Renbaum P.

Obstet Gynecol. 2012 Feb;119(2 Pt 1):338-43. doi: 10.1097/AOG.0b013e318242a11d. Erratum in: Obstet Gynecol. 2012 Apr;119(4):872. Geva, T Eldar [corrected to Eldar-Geva, T].

PMID:
22270286
[PubMed - indexed for MEDLINE]
16.

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.

Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.

PMID:
22042873
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood.

Toperoff G, Aran D, Kark JD, Rosenberg M, Dubnikov T, Nissan B, Wainstein J, Friedlander Y, Levy-Lahad E, Glaser B, Hellman A.

Hum Mol Genet. 2012 Jan 15;21(2):371-83. doi: 10.1093/hmg/ddr472. Epub 2011 Oct 12.

PMID:
21994764
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E.

Am J Med Genet A. 2011 Nov;155A(11):2801-6. doi: 10.1002/ajmg.a.34240. Epub 2011 Oct 11.

PMID:
21990102
[PubMed - indexed for MEDLINE]
19.

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.

Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29.

PMID:
21963259
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases.

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

J Pediatr Endocrinol Metab. 2011;24(7-8):543-8.

PMID:
21932595
[PubMed - indexed for MEDLINE]

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