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Items: 1 to 50 of 286

1.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y.

Mol Genet Metab. 2019 Aug 14. pii: S1096-7192(19)30527-X. doi: 10.1016/j.ymgme.2019.08.003. [Epub ahead of print]

PMID:
31445883
2.

Feeding Issues in Young Children.

Harada M, Amariglio N, Wills H, Koolwijk I.

Adv Pediatr. 2019 Aug;66:123-145. doi: 10.1016/j.yapd.2019.03.004. Epub 2019 Apr 20. Review. No abstract available.

PMID:
31230689
3.

Newly diagnosed multiple myeloma patients carrying monoallelic deletion of the whole locus of immunoglobulin heavy chain gene have a better prognosis compared to those with t(4;14) and t(14;16).

Duek A, Trakhtenbrot L, Amariglio N, Benyamini N, Zilbershats I, Ganzel C, Shevetz O, Leiba R, Rozic G, Nagler A, Leiba M.

Genes Chromosomes Cancer. 2019 Aug;58(8):516-520. doi: 10.1002/gcc.22738. Epub 2019 Feb 6.

PMID:
30675954
4.

The Duffy antigen receptor for chemokines, ACKR1,- 'Jeanne DARC' of benign neutropenia.

Rappoport N, Simon AJ, Amariglio N, Rechavi G.

Br J Haematol. 2019 Feb;184(4):497-507. doi: 10.1111/bjh.15730. Epub 2018 Dec 27. Review.

PMID:
30592023
5.

Is fluorescence in-situ hybridization sufficient in patients with myelodysplastic syndromes and insufficient cytogenetic testing?

Merkel D, Soffer S, Novikov I, Avigdor A, Amariglio N, Nagler A, Trakhtenbrot L.

Leuk Lymphoma. 2019 Mar;60(3):764-771. doi: 10.1080/10428194.2018.1493729. Epub 2018 Sep 6.

PMID:
30187812
6.

Somatic NRAS mutation in patient with generalized lymphatic anomaly.

Manevitz-Mendelson E, Leichner GS, Barel O, Davidi-Avrahami I, Ziv-Strasser L, Eyal E, Pessach I, Rimon U, Barzilai A, Hirshberg A, Chechekes K, Amariglio N, Rechavi G, Yaniv K, Greenberger S.

Angiogenesis. 2018 May;21(2):287-298. doi: 10.1007/s10456-018-9595-8. Epub 2018 Feb 3.

PMID:
29397482
7.

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.

Jacob-Hirsch J, Eyal E, Knisbacher BA, Roth J, Cesarkas K, Dor C, Farage-Barhom S, Kunik V, Simon AJ, Gal M, Yalon M, Moshitch-Moshkovitz S, Tearle R, Constantini S, Levanon EY, Amariglio N, Rechavi G.

Cell Res. 2018 Feb;28(2):187-203. doi: 10.1038/cr.2018.8. Epub 2018 Jan 12.

8.

First delivery in a leukemia survivor after transplantation of cryopreserved ovarian tissue, evaluated for leukemia cells contamination.

Shapira M, Raanani H, Barshack I, Amariglio N, Derech-Haim S, Marciano MN, Schiff E, Orvieto R, Meirow D.

Fertil Steril. 2018 Jan;109(1):48-53. doi: 10.1016/j.fertnstert.2017.09.001. Epub 2017 Nov 29.

PMID:
29198847
9.

RNA editing by ADAR1 leads to context-dependent transcriptome-wide changes in RNA secondary structure.

Solomon O, Di Segni A, Cesarkas K, Porath HT, Marcu-Malina V, Mizrahi O, Stern-Ginossar N, Kol N, Farage-Barhom S, Glick-Saar E, Lerenthal Y, Levanon EY, Amariglio N, Unger R, Goldstein I, Eyal E, Rechavi G.

Nat Commun. 2017 Nov 13;8(1):1440. doi: 10.1038/s41467-017-01458-8.

10.

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y.

J Immunol. 2017 Dec 15;199(12):4036-4045. doi: 10.4049/jimmunol.1700460. Epub 2017 Nov 10.

11.

Breaking the Ceiling of Human Maximal Life span.

Ben-Haim MS, Kanfi Y, Mitchell SJ, Maoz N, Vaughan KL, Amariglio N, Lerrer B, de Cabo R, Rechavi G, Cohen HY.

J Gerontol A Biol Sci Med Sci. 2018 Oct 8;73(11):1465-1471. doi: 10.1093/gerona/glx219.

12.

Nm-seq maps 2'-O-methylation sites in human mRNA with base precision.

Dai Q, Moshitch-Moshkovitz S, Han D, Kol N, Amariglio N, Rechavi G, Dominissini D, He C.

Nat Methods. 2017 Jul;14(7):695-698. doi: 10.1038/nmeth.4294. Epub 2017 May 15.

13.

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y.

Brain. 2017 Mar 1;140(3):568-581. doi: 10.1093/brain/awx002. Erratum in: Brain. 2018 Apr 1;141(4):e34.

14.

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.

Solomon O, Kunik V, Simon A, Kol N, Barel O, Lev A, Amariglio N, Somech R, Rechavi G, Eyal E.

BMC Genomics. 2016 Aug 26;17:681. doi: 10.1186/s12864-016-3028-0.

15.

Correction: Overcoming Resistance of Cancer Cells to PARP-1 Inhibitors with Three Different Drug Combinations.

Yalon M, Tuval-Kochen L, Castel D, Moshe I, Mazal I, Cohen O, Avivi C, Rosenblatt K, Aviel-Ronen S, Schiby G, Yahalom J, Amariglio N, Pfeffer R, Lawrence YR, Toren A, Rechavi G, Paglin S.

PLoS One. 2016 Aug 22;11(8):e0161799. doi: 10.1371/journal.pone.0161799. eCollection 2016.

16.

ADAR1 is vital for B cell lineage development in the mouse bone marrow.

Marcu-Malina V, Goldberg S, Vax E, Amariglio N, Goldstein I, Rechavi G.

Oncotarget. 2016 Aug 23;7(34):54370-54379. doi: 10.18632/oncotarget.11029.

17.

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R.

J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.

18.

ADAR1 deletion induces NFκB and interferon signaling dependent liver inflammation and fibrosis.

Ben-Shoshan SO, Kagan P, Sultan M, Barabash Z, Dor C, Jacob-Hirsch J, Harmelin A, Pappo O, Marcu-Malina V, Ben-Ari Z, Amariglio N, Rechavi G, Goldstein I, Safran M.

RNA Biol. 2017 May 4;14(5):587-602. doi: 10.1080/15476286.2016.1203501. Epub 2016 Jun 30.

19.

Fluorescence lifetime imaging of DAPI-stained nuclei as a novel diagnostic tool for the detection and classification of B-cell chronic lymphocytic leukemia.

Yahav G, Hirshberg A, Salomon O, Amariglio N, Trakhtenbrot L, Fixler D.

Cytometry A. 2016 Jul;89(7):644-52. doi: 10.1002/cyto.a.22890. Epub 2016 Jun 17.

20.

Overcoming Resistance of Cancer Cells to PARP-1 Inhibitors with Three Different Drug Combinations.

Yalon M, Tuval-Kochen L, Castel D, Moshe I, Mazal I, Cohen O, Avivi C, Rosenblatt K, Aviel-Ronen S, Schiby G, Yahalom J, Amariglio N, Pfeffer R, Lawrence Y, Toren A, Rechavi G, Paglin S.

PLoS One. 2016 May 19;11(5):e0155711. doi: 10.1371/journal.pone.0155711. eCollection 2016. Erratum in: PLoS One. 2016;11(8):e0161799.

21.

Transplantations of frozen-thawed ovarian tissue demonstrate high reproductive performance and the need to revise restrictive criteria.

Meirow D, Ra'anani H, Shapira M, Brenghausen M, Derech Chaim S, Aviel-Ronen S, Amariglio N, Schiff E, Orvieto R, Dor J.

Fertil Steril. 2016 Aug;106(2):467-74. doi: 10.1016/j.fertnstert.2016.04.031. Epub 2016 May 12.

PMID:
27181924
22.

e23D: database and visualization of A-to-I RNA editing sites mapped to 3D protein structures.

Solomon O, Eyal E, Amariglio N, Unger R, Rechavi G.

Bioinformatics. 2016 Jul 15;32(14):2213-5. doi: 10.1093/bioinformatics/btw204. Epub 2016 Apr 19.

PMID:
27153640
23.

Translocation t(11;14) in newly diagnosed patients with multiple myeloma: Is it always favorable?

Leiba M, Duek A, Amariglio N, Avigdor A, Benyamini N, Hardan I, Zilbershats I, Ganzel C, Shevetz O, Novikov I, Cohen Y, Ishoev G, Rozic G, Nagler A, Trakhtenbrot L.

Genes Chromosomes Cancer. 2016 Sep;55(9):710-8. doi: 10.1002/gcc.22372. Epub 2016 Jun 24.

PMID:
27152944
24.

Peripheral blood-derived, γ9δ2 t cell-enriched cell lines from glioblastoma multiforme patients exert anti-tumoral effects in vitro.

Marcu-Malina V, Garelick D, Peshes-Yeloz N, Wohl A, Zach L, Nagar M, Amariglio N, Besser MJ, Cohen ZR, Bank I.

J Biol Regul Homeost Agents. 2016 Jan-Mar;30(1):17-30.

PMID:
27049073
25.

The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA.

Dominissini D, Nachtergaele S, Moshitch-Moshkovitz S, Peer E, Kol N, Ben-Haim MS, Dai Q, Di Segni A, Salmon-Divon M, Clark WC, Zheng G, Pan T, Solomon O, Eyal E, Hershkovitz V, Han D, Doré LC, Amariglio N, Rechavi G, He C.

Nature. 2016 Feb 25;530(7591):441-6. doi: 10.1038/nature16998. Epub 2016 Feb 10.

26.

Profiling of Discrete Gynecological Cancers Reveals Novel Transcriptional Modules and Common Features Shared by Other Cancer Types and Embryonic Stem Cells.

Pappa KI, Polyzos A, Jacob-Hirsch J, Amariglio N, Vlachos GD, Loutradis D, Anagnou NP.

PLoS One. 2015 Nov 11;10(11):e0142229. doi: 10.1371/journal.pone.0142229. eCollection 2015.

27.

Calreticulin mutation burden--is it a stable clone in patients with essential thrombocythemia and myelofibrosis?

Shuly Y, Nagar M, Ben-Asaf L, Kneller A, Steinberg DM, Amariglio N, Salomon O.

Blood Cells Mol Dis. 2015 Dec;55(4):281-3. doi: 10.1016/j.bcmd.2015.07.011. Epub 2015 Jul 18.

PMID:
26460248
28.

Assessment of Liver and Spleen Stiffness in Patients With Myelofibrosis Using FibroScan and Shear Wave Elastography.

Webb M, Shibolet O, Halpern Z, Nagar M, Amariglio N, Levit S, Steinberg DM, Santo E, Salomon O.

Ultrasound Q. 2015 Sep;31(3):166-9. doi: 10.1097/RUQ.0000000000000139.

PMID:
26366688
29.

Transcriptome-Wide Mapping of N⁶-Methyladenosine by m⁶A-Seq.

Dominissini D, Moshitch-Moshkovitz S, Amariglio N, Rechavi G.

Methods Enzymol. 2015;560:131-47. doi: 10.1016/bs.mie.2015.03.001. Epub 2015 Jun 2.

PMID:
26253969
30.

Sensitive Replicate Real-Time Quantitative PCR of BCR-ABL Shows Deep Molecular Responses in Long-Term Post-Allogeneic Stem Cell Transplantation Chronic Myeloid Leukemia Patients.

Koren-Michowitz M, Shimoni A, Daraio F, Crasto F, Lorenzatti R, Volchek Y, Amariglio N, Gottardi E, Saglio G, Nagler A.

Biol Blood Marrow Transplant. 2015 Oct;21(10):1852-5. doi: 10.1016/j.bbmt.2015.06.018. Epub 2015 Jul 4.

31.

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.

Shinar Y, Tohami T, Livneh A, Schiby G, Hirshberg A, Nagar M, Goldstein I, Cohen R, Kukuy O, Shubman O, Sharabi Y, Gonzalez-Roca E, Arostegui JI, Rechavi G, Amariglio N, Salomon O.

Orphanet J Rare Dis. 2015 Jun 30;10:86. doi: 10.1186/s13023-015-0298-6.

32.

Oral lichen planus patients exhibit consistent chromosomal numerical aberrations: A follow-up analysis.

Yahalom R, Yarom N, Shani T, Amariglio N, Kaplan I, Trakhtenbrot L, Hirshberg A.

Head Neck. 2016 Apr;38 Suppl 1:E741-6. doi: 10.1002/hed.24086. Epub 2015 Jul 30.

PMID:
25900614
33.

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews.

Rappoport N, Simon AJ, Lev A, Yacobi M, Kaplinsky C, Weingarten M, Somech R, Amariglio N, Rechavi G.

Br J Haematol. 2015 Sep;170(6):892-5. doi: 10.1111/bjh.13345. Epub 2015 Mar 26. No abstract available.

PMID:
25817587
34.

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development.

Rechavi E, Lev A, Lee YN, Simon AJ, Yinon Y, Lipitz S, Amariglio N, Weisz B, Notarangelo LD, Somech R.

Sci Transl Med. 2015 Feb 25;7(276):276ra25. doi: 10.1126/scitranslmed.aaa0072.

PMID:
25717098
35.

Stem cells. m6A mRNA methylation facilitates resolution of naïve pluripotency toward differentiation.

Geula S, Moshitch-Moshkovitz S, Dominissini D, Mansour AA, Kol N, Salmon-Divon M, Hershkovitz V, Peer E, Mor N, Manor YS, Ben-Haim MS, Eyal E, Yunger S, Pinto Y, Jaitin DA, Viukov S, Rais Y, Krupalnik V, Chomsky E, Zerbib M, Maza I, Rechavi Y, Massarwa R, Hanna S, Amit I, Levanon EY, Amariglio N, Stern-Ginossar N, Novershtern N, Rechavi G, Hanna JH.

Science. 2015 Feb 27;347(6225):1002-6. doi: 10.1126/science.1261417. Epub 2015 Jan 1.

36.

Characterizing of functional human coding RNA editing from evolutionary, structural, and dynamic perspectives.

Solomon O, Bazak L, Levanon EY, Amariglio N, Unger R, Rechavi G, Eyal E.

Proteins. 2014 Nov;82(11):3117-31. doi: 10.1002/prot.24672. Epub 2014 Sep 3.

PMID:
25136968
37.

Related to testes-specific, vespid and pathogenesis protein-1 is regulated by methylation in glioblastoma.

Jacoby E, Yalon M, Leitner M, Cohen ZR, Cohen Y, Fisher T, Eder S, Amariglio N, Rechavi G, Cazacu S, Xiang C, Mikkelsen T, Brodie C, Toren A.

Oncol Lett. 2014 Apr;7(4):1209-1212. Epub 2014 Jan 27.

38.

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

Kraus M, Lev A, Simon AJ, Levran I, Nissenkorn A, Levi YB, Berkun Y, Efrati O, Amariglio N, Rechavi G, Somech R.

J Clin Immunol. 2014 Jul;34(5):561-72. doi: 10.1007/s10875-014-0044-1. Epub 2014 May 1.

PMID:
24789685
39.

Hippocampus-specific deficiency in RNA editing of GluA2 in Alzheimer's disease.

Gaisler-Salomon I, Kravitz E, Feiler Y, Safran M, Biegon A, Amariglio N, Rechavi G.

Neurobiol Aging. 2014 Aug;35(8):1785-91. doi: 10.1016/j.neurobiolaging.2014.02.018. Epub 2014 Mar 1.

PMID:
24679603
40.

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.

Lev A, Simon AJ, Ben-Ari J, Takagi D, Stauber T, Trakhtenbrot L, Rosenthal E, Rechavi G, Amariglio N, Somech R.

Clin Exp Immunol. 2014 Jun;176(3):380-6. doi: 10.1111/cei.12273.

41.

Induction of polyploidy by nuclear fusion mechanism upon decreased expression of the nuclear envelope protein LAP2β in the human osteosarcoma cell line U2OS.

Ben-Shoshan SO, Simon AJ, Jacob-Hirsch J, Shaklai S, Paz-Yaacov N, Amariglio N, Rechavi G, Trakhtenbrot L.

Mol Cytogenet. 2014 Jan 28;7(1):9. doi: 10.1186/1755-8166-7-9.

42.

OCT1 genetic variants are associated with long term outcomes in imatinib treated chronic myeloid leukemia patients.

Koren-Michowitz M, Buzaglo Z, Ribakovsky E, Schwarz M, Pessach I, Shimoni A, Beider K, Amariglio N, le Coutre P, Nagler A.

Eur J Haematol. 2014 Apr;92(4):283-8. doi: 10.1111/ejh.12235. Epub 2013 Dec 18.

PMID:
24215657
43.

F11R expression upon hypoxia is regulated by RNA editing.

Ben-Zvi M, Amariglio N, Paret G, Nevo-Caspi Y.

PLoS One. 2013 Oct 16;8(10):e77702. doi: 10.1371/journal.pone.0077702. eCollection 2013.

44.

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.

Somech R, Lev A, Simon AJ, Korn D, Garty BZ, Amariglio N, Rechavi G, Almashanu S, Zlotogora J, Etzioni A.

Isr Med Assoc J. 2013 Aug;15(8):404-9.

45.

Association between a common CYP17A1 haplotype and anxiety in female anorexia nervosa.

Czerniak E, Korostishevsky M, Frisch A, Cohen Y, Amariglio N, Rechavi G, Michaelovsky E, Stein D, Danziger Y, Fennig S, Apter A, Weizman A, Gak E.

Arch Womens Ment Health. 2013 Oct;16(5):423-8. doi: 10.1007/s00737-013-0363-x. Epub 2013 Jun 18.

PMID:
23775394
46.

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.

N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5.

47.

MicroRNA-mediated loss of ADAR1 in metastatic melanoma promotes tumor growth.

Nemlich Y, Greenberg E, Ortenberg R, Besser MJ, Barshack I, Jacob-Hirsch J, Jacoby E, Eyal E, Rivkin L, Prieto VG, Chakravarti N, Duncan LM, Kallenberg DM, Galun E, Bennett DC, Amariglio N, Bar-Eli M, Schachter J, Rechavi G, Markel G.

J Clin Invest. 2013 Jun;123(6):2703-18.

48.

miR-155 is involved in tumor progression of mycosis fungoides.

Moyal L, Barzilai A, Gorovitz B, Hirshberg A, Amariglio N, Jacob-Hirsch J, Maron L, Feinmesser M, Hodak E.

Exp Dermatol. 2013 Jun;22(6):431-3. doi: 10.1111/exd.12161.

PMID:
23711069
49.

Severe eosinophilia in children: a diagnostic dilemma.

Amshalom A, Lev A, Trakhtenbrot L, Golan H, Weiss B, Amariglio N, Rechavi G, Somech R.

J Pediatr Hematol Oncol. 2013 May;35(4):303-6. doi: 10.1097/MPH.0b013e318290bf0b.

PMID:
23612381
50.

Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.

Bielorai B, Fisher T, Waldman D, Lerenthal Y, Nissenkorn A, Tohami T, Marek D, Amariglio N, Toren A.

Pediatr Hematol Oncol. 2013 Sep;30(6):574-82. doi: 10.3109/08880018.2013.777949. Epub 2013 Mar 19.

PMID:
23509889

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