Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 85

1.

Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.

Zeevi DA, Zahdeh F, Kling Y, Rosen T, Renbaum P, Ron-El R, Eldar-Geva T, Holzer HEG, Levy-Lahad E, Altarescu G.

Sci Rep. 2018 Oct 29;8(1):15941. doi: 10.1038/s41598-018-34396-6.

2.

Essential Role of BRCA2 in Ovarian Development and Function.

Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.

N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.

3.

Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways.

Vinograd-Byk H, Renbaum P, Levy-Lahad E.

Sci Rep. 2018 Jul 26;8(1):11265. doi: 10.1038/s41598-018-29215-x.

4.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R.

J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15.

PMID:
29764912
5.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

6.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T.

Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.

7.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E.

Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29.

8.

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E.

Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2.

PMID:
26925547
9.

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.

10.

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.

11.

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.

12.

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
13.

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.

14.

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.

15.

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
16.

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.

17.

Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease.

Lev-Tzion R, Renbaum P, Beeri R, Ledder O, Mevorach R, Karban A, Koifman E, Efrati E, Muise AM, Chowers Y, Turner D.

J Pediatr Gastroenterol Nutr. 2015 Oct;61(4):404-7. doi: 10.1097/MPG.0000000000000820.

PMID:
25885881
18.

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
19.

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.

20.

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.

21.

Heme oxygenase-1 promoter polymorphisms and neonatal jaundice.

Kaplan M, Renbaum P, Hammerman C, Vreman HJ, Wong RJ, Stevenson DK.

Neonatology. 2014;106(4):323-9. doi: 10.1159/000365744. Epub 2014 Oct 1.

PMID:
25277974
22.

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.

23.

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.

24.

Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy.

Srebnik N, Margalioth EJ, Rabinowitz R, Varshaver I, Altarescu G, Renbaum P, Levi-Lahad E, Weintraub A, Eldar-Geva T.

Reprod Biomed Online. 2014 Jul;29(1):94-101. doi: 10.1016/j.rbmo.2014.03.013. Epub 2014 Mar 31.

PMID:
24813161
25.

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.

26.

Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish population.

Kasirer Y, Mevorach R, Renbaum P, Algur N, Soiferman D, Beeri R, Rachman Y, Segel R, Turner D.

Dig Dis Sci. 2014 Jun;59(6):1207-12. doi: 10.1007/s10620-013-3008-z. Epub 2014 Jan 4.

PMID:
24390675
27.

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.

28.

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
29.

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
30.

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.

31.

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
32.

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
33.

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
34.

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.

35.

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
36.

Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications.

Sanz-García M, Vázquez-Cedeira M, Kellerman E, Renbaum P, Levy-Lahad E, Lazo PA.

J Proteomics. 2011 Dec 21;75(2):548-60. doi: 10.1016/j.jprot.2011.08.019. Epub 2011 Sep 3.

37.

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.

Altarescu G, Renbaum P, Eldar-Geva T, Brooks B, Varshaver I, Avitzour M, Margalioth EJ, Levy-Lahad E, Elstein D, Epsztejn-Litman S, Eiges R.

Prenat Diagn. 2011 Sep;31(9):853-60. doi: 10.1002/pd.2786. Epub 2011 Jun 27.

PMID:
21706504
38.

Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis.

Muise AM, Walters T, Xu W, Shen-Tu G, Guo CH, Fattouh R, Lam GY, Wolters VM, Bennitz J, van Limbergen J, Renbaum P, Kasirer Y, Ngan BY, Turner D, Denson LA, Sherman PM, Duerr RH, Cho J, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Glogauer M, Silverberg MS, Brumell JH.

Gastroenterology. 2011 Aug;141(2):633-41. doi: 10.1053/j.gastro.2011.04.057. Epub 2011 May 4.

39.

Female sex bias in human embryonic stem cell lines.

Ben-Yosef D, Amit A, Malcov M, Frumkin T, Ben-Yehudah A, Eldar I, Mey-Raz N, Azem F, Altarescu G, Renbaum P, Beeri R, Varshaver I, Eldar-Geva T, Epsztejn-Litman S, Levy-Lahad E, Eiges R.

Stem Cells Dev. 2012 Feb 10;21(3):363-72. doi: 10.1089/scd.2011.0102. Epub 2011 Jun 24.

40.

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.

Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2011 Apr;155A(4):938-9. doi: 10.1002/ajmg.a.33871. Epub 2011 Mar 15. No abstract available.

PMID:
21412972
41.

Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.

Altarescu G, Reish O, Renbaum P, Kasterstein E, Komarovsky D, Komsky A, Bern O, Strassburger D, Levy-Lahad E, Ron-El R.

J Assist Reprod Genet. 2011 Mar;28(3):233-8. doi: 10.1007/s10815-010-9508-2. Epub 2010 Dec 1.

42.

The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Kaufman B, Laitman Y, Ziv E, Hamann U, Torres D, Lahad EL, Beeri R, Renbaum P, Jakubowska A, Lubinski J, Huzarski T, Tołoczko-Grabarek A, Jaworska K, Durda K, Sprudle AB, Chenevix-Trench G, Simard J, Easton DF, Antonis A, Szabo C, Friedman E.

Breast Cancer Res Treat. 2011 Apr;126(2):521-7. doi: 10.1007/s10549-010-1123-5. Epub 2010 Aug 27.

PMID:
20798986
43.

PGD for fragile X syndrome: ovarian function is the main determinant of success.

Tsafrir A, Altarescu G, Margalioth E, Brooks B, Renbaum P, Levy-Lahad E, Rabinowitz R, Varshaver I, Eldar-Geva T.

Hum Reprod. 2010 Oct;25(10):2629-36. doi: 10.1093/humrep/deq203. Epub 2010 Aug 16.

PMID:
20713414
44.

Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model.

Altarescu G, Renbaum P, Eldar-Geva T, Varshower I, Brooks B, Beeri R, Margalioth EJ, Levy-Lahad E, Elstein D, Zimran A.

Blood Cells Mol Dis. 2011 Jan 15;46(1):15-8. doi: 10.1016/j.bcmd.2010.04.008. Epub 2010 Jun 1.

PMID:
20684885
45.

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563.

PMID:
20683993
46.

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required.

Reish O, Shefer-Kaufmann N, Shimshoni DC, Renbaum P, Orr-Urtreger A, Steiner H, Rapoport M, Levy-Lahad E, Altarescu G.

Genet Med. 2010 Feb;12(2):122-5. doi: 10.1097/GIM.0b013e3181cb78d6.

PMID:
20084012
47.

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies.

Li Y, Altarescu G, Renbaum P, Eldar-Geva T, Levy-Lahad E, Margalioth EJ, Zhong X, Hahn S, Holzgreve W.

Reprod Biomed Online. 2009 Nov;19(5):714-20.

PMID:
20021720
48.

p53-dependent control of transactivation of the Pen2 promoter by presenilins.

Dunys J, Sevalle J, Giaime E, Pardossi-Piquard R, Vitek MP, Renbaum P, Levy-Lahad E, Zhang YW, Xu H, Checler F, da Costa CA.

J Cell Sci. 2009 Nov 1;122(Pt 21):4003-8. doi: 10.1242/jcs.051169.

49.

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P.

J Assist Reprod Genet. 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5.

50.

Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.

Altarescu G, Eldar-Geva T, Varshower I, Brooks B, Haran EZ, Margalioth EJ, Levy-Lahad E, Renbaum P.

Hum Reprod. 2009 Dec;24(12):3225-9. doi: 10.1093/humrep/dep293. Epub 2009 Aug 17.

PMID:
19687056

Supplemental Content

Loading ...
Support Center