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Items: 1 to 20 of 78

1.

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.

Laitman Y, Michaelson-Cohen R, Levi E, Chen-Shtoyerman R, Reish O, Josefsberg Ben-Yehoshua S, Bernstein-Molho R, Keinan-Boker L, Rosengarten O, Silverman BG, Perri T, Korach J, Mor P, Ephrat Ben-Baruch N, Levy Lahad E, Friedman E; Israeli Consortium of Hereditary Breast Cancer.

Cancer. 2019 Mar 1;125(5):698-703. doi: 10.1002/cncr.31842. Epub 2018 Nov 29.

PMID:
30489631
2.

Lacosamide for SCN2A-related intractable neonatal and infantile seizures.

Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H.

Epileptic Disord. 2018 Oct 1;20(5):440-446. doi: 10.1684/epd.2018.1001.

PMID:
30361185
3.

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.

Bernstein-Molho R, Laitman Y, Schayek H, Reish O, Lotan S, Haim S, Zidan J, Friedman E.

Breast Cancer Res Treat. 2018 Feb;167(3):697-702. doi: 10.1007/s10549-017-4551-7. Epub 2017 Oct 30.

PMID:
29086229
4.

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O.

Prenat Diagn. 2017 Feb;37(2):144-150. doi: 10.1002/pd.4977. Epub 2017 Jan 25.

PMID:
27933661
5.

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R.

Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9.

6.

Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

Yablonski-Peretz T, Paluch-Shimon S, Gutman LS, Kaplan Y, Dvir A, Barnes-Kedar I, Kadouri L, Semenisty V, Efrat N, Neiman V, Glasser Y, Michaelson-Cohen R, Katz L, Kaufman B, Golan T, Reish O, Hubert A, Safra T, Yaron Y, Friedman E.

Breast Cancer Res Treat. 2016 Jan;155(1):133-8. doi: 10.1007/s10549-015-3662-2. Epub 2015 Dec 19.

PMID:
26687385
7.

[Prenatal diagnosis of triploidy: the experience of Assaf-Harofe Medical Center].

Dovev MN, Vaknin Z, Keidar R, Reish O, Melcer Y, Maymon R.

Harefuah. 2014 Sep;153(9):518-21, 559. Hebrew. Erratum in: Harefuah. 2014 Dec;153(12):751. Meltzer, Ya'akob [corrected to Melcer, Ya'akob].

PMID:
25417486
8.

[Prenatal diagnosis of trisomy 13 and trisomy 18: the experience of Assaf-Harofe Medical Center].

Naor Dovev M, Maymon R, Keidar R, Reish O, Melcer Y, Vaknin Z.

Harefuah. 2014 Aug;153(8):453-7, 499, 498. Hebrew. Erratum in: Harefuah. 2014 Dec;153(12):751. Meltzer, Y [corrected to Melcer, Y].

PMID:
25286634
9.

Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y.

J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114.

PMID:
24048166
10.

Congenital myopathy is caused by mutation of HACD1.

Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R.

Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9.

11.

The increased expression of 14q32 small nucleolar RNA transcripts in promyelocytic leukemia cells is not dependent on PML-RARA fusion gene.

Cohen Y, Hertzog K, Reish O, Mashevich M, Garach-Jehoshua O, Bar-Chaim A, Trakhtenbrot L, Kornberg A.

Blood Cancer J. 2012 Oct 12;2:e92. doi: 10.1038/bcj.2012.39. No abstract available.

12.

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A, Reish O, Shoubridge C, Gecz J.

Clin Genet. 2011 Dec;80(6):510-22. doi: 10.1111/j.1399-0004.2011.01685.x. Epub 2011 May 18.

PMID:
21496008
13.

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
14.

Sporadic aneuploidy in PHA-stimulated lymphocytes of trisomies 21, 18, and 13.

Reish O, Regev M, Kanesky A, Girafi S, Mashevich M.

Cytogenet Genome Res. 2011;133(2-4):184-9. doi: 10.1159/000323504. Epub 2011 Jan 19.

PMID:
21252489
15.

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.

16.

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
17.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

18.

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
19.

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.

Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM.

Ann Hum Genet. 2010 Mar;74(2):117-25. doi: 10.1111/j.1469-1809.2009.00559.x. Epub 2010 Jan 8.

20.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E.

Mol Vis. 2009 Aug 28;15:1709-16.

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