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Items: 1 to 50 of 53

1.

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

Rowczenio D, Shinar Y, Ceccherini I, Sheils K, Van Gijn M, Patton SJ, Touitou I.

Eur J Hum Genet. 2019 Jun 11. doi: 10.1038/s41431-019-0439-9. [Epub ahead of print]

PMID:
31186541
2.

Classification criteria for autoinflammatory recurrent fevers.

Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO).

Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Review.

PMID:
31018962
3.

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.

J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.

PMID:
29599418
4.

Reply.

Brenner R, Ben-Zvi I, Shinar Y, Livneh A, Liphshitz I, Silverman B, Peled N, Levy C, Ben-Chetrit E, Kivity S.

Arthritis Rheumatol. 2018 Jul;70(7):1167-1168. doi: 10.1002/art.40496. Epub 2018 May 14. No abstract available.

5.

A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls.

Lidar M, Brantz Y, Shinar Y, Reznik-Wolf H, Livneh A, Ben Zvi I, Cohen R, Berkun Y, Hashkes PJ, Peleg H, Kessel A, Slobodin G, Rozenbaum M, Goldzweig O, Pras E.

Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):82-85. Epub 2017 Oct 6.

PMID:
29148409
6.

Familial Mediterranean Fever and Incidence of Cancer: An Analysis of 8,534 Israeli Patients With 258,803 Person-Years.

Brenner R, Ben-Zvi I, Shinar Y, Liphshitz I, Silverman B, Peled N, Levy C, Ben-Chetrit E, Livneh A, Kivity S.

Arthritis Rheumatol. 2018 Jan;70(1):127-133. doi: 10.1002/art.40344. Epub 2017 Dec 7.

7.

Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS).

Dechtman ID, Grossman C, Shinar Y, Cohen R, Nachum E, Raanani E, Livneh A, Ben-Zvi I.

Isr Med Assoc J. 2017 Sep;19(9):562-565.

8.

Distressing Visions at the End of Life: Case Report and Review of the Literature.

Shinar YR, Marks AD.

J Pastoral Care Counsel. 2015 Dec;69(4):251-3. doi: 10.1177/1542305015616103. Review.

PMID:
26631525
9.

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.

10.

Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients.

Kukuy O, Livneh A, Ben-David A, Kopolovic J, Volkov A, Shinar Y, Holtzman E, Dinour D, Ben-Zvi I.

J Rheumatol. 2013 Dec;40(12):2083-7. doi: 10.3899/jrheum.130520. Epub 2013 Oct 15.

PMID:
24128782
11.

E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin.

Lidar M, Shinar Y, Goldberg M, Ben-Zvi I, Langevitz P, Livneh A.

Immunol Res. 2013 Jul;56(2-3):371-5. doi: 10.1007/s12026-013-8414-y.

PMID:
23592051
12.

T helper 17 polarization in familial Mediterranean fever.

Ovadia A, Livneh A, Feld O, Ben-Zvi I, Kukuy E, Kivity S, Lidar M, Barda-Saad M, Shinar Y.

Genes Immun. 2013 Jun;14(4):212-6. doi: 10.1038/gene.2013.6. Epub 2013 Mar 7.

PMID:
23466494
13.

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network.

Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1.

14.

Familial Mediterranean FeVer gene (MEFV) mutations as a modifier of systemic lupus erythematosus.

Shinar Y, Kosach E, Langevitz P, Zandman-Goddard G, Pauzner R, Rabinovich E, Livneh A, Lidar M.

Lupus. 2012 Aug;21(9):993-8. doi: 10.1177/0961203312441048. Epub 2012 Apr 24.

PMID:
22532615
15.

NOD2/CARD15 gene mutations in patients with familial Mediterranean fever.

Berkun Y, Karban A, Padeh S, Pras E, Shinar Y, Lidar M, Livneh A, Bujanover Y.

Semin Arthritis Rheum. 2012 Aug;42(1):84-8. doi: 10.1016/j.semarthrit.2011.12.002. Epub 2012 Jan 12.

PMID:
22244368
16.

'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.

Camus D, Shinar Y, Aamar S, Langevitz P, Ben-Zvi I, Livneh A, Lidar M.

Clin Genet. 2012 Sep;82(3):288-91. doi: 10.1111/j.1399-0004.2011.01785.x. Epub 2011 Oct 14.

PMID:
21995303
17.

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E.

Arthritis Care Res (Hoboken). 2010 Sep;62(9):1294-8. doi: 10.1002/acr.20213.

18.

Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution.

Padeh S, Livneh A, Pras E, Shinar Y, Lidar M, Feld O, Berkun Y.

J Pediatr. 2010 Jun;156(6):985-989. doi: 10.1016/j.jpeds.2009.12.010. Epub 2010 Mar 15.

PMID:
20227729
19.

Familial Mediterranean fever in children presenting with attacks of fever alone.

Padeh S, Livneh A, Pras E, Shinar Y, Lidar M, Feld O, Berkun Y.

J Rheumatol. 2010 Apr;37(4):865-9. doi: 10.3899/jrheum.090687. Epub 2010 Mar 1.

PMID:
20194447
20.

MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever.

Feld O, Livneh A, Shinar Y, Berkun Y, Lidar M.

J Hum Genet. 2009 Jun;54(6):369-71. doi: 10.1038/jhg.2009.33. Epub 2009 Apr 17.

PMID:
19373257
21.

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

Touitou I, Rittore C, Philibert L, Yagüe J, Shinar Y, Aksentijevich I.

Eur J Hum Genet. 2009 Jul;17(7):890-6. doi: 10.1038/ejhg.2008.253. Epub 2009 Jan 28.

22.

Systemic lupus erythematosus and familial Mediterranean fever: a possible negative association between the two disease entities--report of four cases and review of the literature.

Lidar M, Zandman-Goddard G, Shinar Y, Zaks N, Livneh A, Langevitz P.

Lupus. 2008 Jul;17(7):663-9. doi: 10.1177/0961203308089403. Review.

PMID:
18625639
23.

Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis.

Kukuy OL, Kopolovic J, Blau A, Ben-David A, Lotan D, Shaked M, Shinar Y, Dinour D, Langevitz P, Livneh A.

Clin Genet. 2008 Feb;73(2):146-51. doi: 10.1111/j.1399-0004.2007.00945.x. Epub 2007 Dec 19.

PMID:
18177471
24.

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

Shinar Y, Kuchuk I, Menasherow S, Kolet M, Lidar M, Langevitz P, Livneh A.

Rheumatology (Oxford). 2007 Nov;46(11):1718-22. Epub 2007 Oct 15.

PMID:
17938136
25.

Transthyretin amyloidosis in a patient of Iranian-Jewish extraction: a second Israeli-Jewish case.

Kaplan B, Shinar Y, Avisar C, Livneh A.

Clin Chem Lab Med. 2007;45(5):625-8.

PMID:
17484624
26.

Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.

Rabinovich E, Shinar Y, Leiba M, Ehrenfeld M, Langevitz P, Livneh A.

Scand J Rheumatol. 2007 Jan-Feb;36(1):48-52.

PMID:
17454935
27.

Long-term outcomes in difficult-to-treat patients with recurrent pericarditis.

Brucato A, Brambilla G, Moreo A, Alberti A, Munforti C, Ghirardello A, Doria A, Shinar Y, Livneh A, Adler Y, Shoenfeld Y, Mauri F, Palmieri G, Spodick DH.

Am J Cardiol. 2006 Jul 15;98(2):267-71. Epub 2006 Jun 5.

PMID:
16828606
28.

Role of the pyrin M694V (A2080G) allele in acute myocardial infarction and longevity: a study in the Sicilian population.

Grimaldi MP, Candore G, Vasto S, Caruso M, Caimi G, Hoffmann E, Colonna-Romano G, Lio D, Shinar Y, Franceschi C, Caruso C.

J Leukoc Biol. 2006 Mar;79(3):611-5. Epub 2005 Dec 30.

PMID:
16387839
29.

Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients.

Brucato A, Shinar Y, Brambilla G, Robbiolo L, Ferrioli G, Patrosso MC, Zanni D, Penco S, Boiani E, Ghirardello A, Caforio AL, Bergantin A, Tombini V, Moreo A, Ashtamkar L, Doria A, Shoenfeld Y, Livneh A.

Lupus. 2005;14(9):670-4.

PMID:
16218464
30.

Evaluation of disease severity in familial Mediterranean fever.

Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S, Rabinovitz E, Livneh A.

Semin Arthritis Rheum. 2005 Aug;35(1):57-64.

PMID:
16084225
31.

Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene.

Rabinovich E, Livneh A, Langevitz P, Brezniak N, Shinar E, Pras M, Shinar Y.

Ann Rheum Dis. 2005 Jul;64(7):1009-14.

32.

PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations.

Hatano Y, Sato K, Elibol B, Yoshino H, Yamamura Y, Bonifati V, Shinotoh H, Asahina M, Kobayashi S, Ng AR, Rosales RL, Hassin-Baer S, Shinar Y, Lu CS, Chang HC, Wu-Chou YH, Ataç FB, Kobayashi T, Toda T, Mizuno Y, Hattori N.

Neurology. 2004 Oct 26;63(8):1482-5.

PMID:
15505170
33.

Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization.

Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, Langevitz P, Livneh A.

Semin Arthritis Rheum. 2004 Feb;33(4):273-82.

PMID:
14978665
34.

Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

Zaks N, Shinar Y, Padeh S, Lidar M, Mor A, Tokov I, Pras M, Langevitz P, Pras E, Livneh A.

Isr Med Assoc J. 2003 Aug;5(8):585-8.

35.

Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients.

Shinar Y, Livneh A, Villa Y, Pinhasov A, Zeitoun I, Kogan A, Achiron A.

Genes Immun. 2003 Apr;4(3):197-203.

PMID:
12700594
36.

Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, Livneh A.

J Rheumatol. 2003 Jan;30(1):185-90.

PMID:
12508410
37.

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E.

Hum Genet. 2002 Aug;111(2):214-8. Epub 2002 Jul 16.

PMID:
12189496
38.
39.

A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts.

Shinar Y, Ben-Zeev B, Brand N, Lahat H, Gross-Zur V, MacGregor D, Bahan T, Kastner DL, Pras E.

J Med Genet. 2002 Jan;39(1):54-7. No abstract available.

40.
41.

Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state.

Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, Pras M, Livneh A.

Am J Med Genet. 2001 Aug 15;102(3):272-6.

PMID:
11484206
42.

Familial Mediterranean fever: new aspects and prospects at the end of the millenium.

Langevitz P, Livneh A, Padeh S, Zaks N, Shinar Y, Zemer D, Pras E, Pras M.

Isr Med Assoc J. 1999 Sep;1(1):31-6. Review. No abstract available.

PMID:
11370119
43.

A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).

Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y, Pras E, Zaks N, Padeh S, Kastner DL, Pras M.

Eur J Hum Genet. 2001 Mar;9(3):191-6.

44.

Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients.

Ben-Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C, Shinar Y, Pras E, Brand N.

J Child Neurol. 2001 Feb;16(2):93-9.

PMID:
11292232
45.

Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.

Shinar Y, Livneh A, Langevitz P, Zaks N, Aksentijevich I, Koziol DE, Kastner DL, Pras M, Pras E.

J Rheumatol. 2000 Jul;27(7):1703-7.

PMID:
10914855
46.

Protracted febrile myalgia of familial Mediterranean fever. Mutation analysis and clinical correlations.

Sidi G, Shinar Y, Livneh A, Langevitz P, Pras M, Pras E.

Scand J Rheumatol. 2000;29(3):174-6.

PMID:
10898070
47.

Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.

Press J, Shinar Y, Langevitz P, Livneh A, Pras M, Buskila D.

Am J Med Genet. 2000 Jun 5;92(4):247-9.

PMID:
10842289
48.

Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics.

Tamir N, Langevitz P, Zemer D, Pras E, Shinar Y, Padeh S, Zaks N, Pras M, Livneh A.

Am J Med Genet. 1999 Nov 5;87(1):30-5.

PMID:
10528243
49.

Analysis of allelic association between D6S461 marker and multiple sclerosis in Ashkenazi and Iraqi Jewish patients.

Shinar Y, Pras E, Siev-Ner I, Gamus D, Brautbar C, Israel S, Achiron A.

J Mol Neurosci. 1998 Dec;11(3):265-9.

PMID:
10344796
50.

MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever.

Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, Pras E.

Amyloid. 1999 Mar;6(1):1-6.

PMID:
10211405

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