-
2
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997;90(4):797-807.
-
(1997)
The International FMF Consortium. Cell.
, vol.90
, Issue.4
, pp. 797-807
-
-
-
3
-
-
67650736238
-
Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease (∗)
-
1:CAS:528:DC%2BD1MXlsFSlt7w%3D 19302049
-
Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (∗). Annu Rev Immunol. 2009;27:621-68.
-
(2009)
Annu Rev Immunol
, vol.27
, pp. 621-668
-
-
Masters, S.L.1
Simon, A.2
Aksentijevich, I.3
Kastner, D.L.4
-
5
-
-
66449092521
-
Changing concepts in familial Mediterranean fever: Is it possible to have an autosomal-recessive disease with only one mutation?
-
1:CAS:528:DC%2BD1MXotVeqsb4%3D 19479854
-
Ozen S. Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? Arthritis Rheum. 2009;60(6):1575-7.
-
(2009)
Arthritis Rheum
, vol.60
, Issue.6
, pp. 1575-1577
-
-
Ozen, S.1
-
6
-
-
84883819650
-
Inheritance of autoinflammatory diseases: Shifting paradigms and nomenclature
-
1:CAS:528:DC%2BC3sXpvFejt7s%3D 23536687
-
Touitou I. Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature. J Med Genet. 2013;50(6):349-59.
-
(2013)
J Med Genet
, vol.50
, Issue.6
, pp. 349-359
-
-
Touitou, I.1
-
7
-
-
66449096202
-
Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?
-
1:CAS:528:DC%2BD1MXotVeqt7g%3D 19479870
-
Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum. 2009;60(6):1851-61.
-
(2009)
Arthritis Rheum
, vol.60
, Issue.6
, pp. 1851-1861
-
-
Booty, M.G.1
Chae, J.J.2
Masters, S.L.3
Remmers, E.F.4
Barham, B.5
Le, J.M.6
-
8
-
-
66449090908
-
Clinical disease among patients heterozygous for familial Mediterranean fever
-
1:CAS:528:DC%2BD1MXotVeqt7k%3D 19479871
-
Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009;60(6):1862-6.
-
(2009)
Arthritis Rheum
, vol.60
, Issue.6
, pp. 1862-1866
-
-
Marek-Yagel, D.1
Berkun, Y.2
Padeh, S.3
Abu, A.4
Reznik-Wolf, H.5
Livneh, A.6
-
9
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
1:STN:280:DyaK2svns1Wktg%3D%3D 9336425
-
Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-85.
-
(1997)
Arthritis Rheum
, vol.40
, Issue.10
, pp. 1879-1885
-
-
Livneh, A.1
Langevitz, P.2
Zemer, D.3
Zaks, N.4
Kees, S.5
Lidar, T.6
-
10
-
-
0037228468
-
Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever
-
12508410
-
Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol. 2003;30(1):185-90.
-
(2003)
J Rheumatol
, vol.30
, Issue.1
, pp. 185-190
-
-
Padeh, S.1
Shinar, Y.2
Pras, E.3
Zemer, D.4
Langevitz, P.5
Pras, M.6
-
11
-
-
0042072901
-
Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations
-
Cazeneuve C, Hovannesyan Z, Genevieve D, Hayrapetyan H, Papin S, Girodon-Boulandet E, et al. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum. 2003;48(8):2324-31.
-
(2003)
Arthritis Rheum
, vol.48
, Issue.8
, pp. 2324-2331
-
-
Cazeneuve, C.1
Hovannesyan, Z.2
Genevieve, D.3
Hayrapetyan, H.4
Papin, S.5
Girodon-Boulandet, E.6
-
12
-
-
84868475244
-
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population
-
Federici S, Calcagno G, Finetti M, Gallizzi R, Meini A, Vitale A, et al. Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis. 2012;71(12):1961-5.
-
(2012)
Ann Rheum Dis
, vol.71
, Issue.12
, pp. 1961-1965
-
-
Federici, S.1
Calcagno, G.2
Finetti, M.3
Gallizzi, R.4
Meini, A.5
Vitale, A.6
-
13
-
-
34248351562
-
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever
-
1:STN:280:DC%2BD2s3ot1yqsA%3D%3D 17489852
-
Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet. 2007;71(5):458-67.
-
(2007)
Clin Genet
, vol.71
, Issue.5
, pp. 458-467
-
-
Giaglis, S.1
Papadopoulos, V.2
Kambas, K.3
Doumas, M.4
Tsironidou, V.5
Rafail, S.6
-
14
-
-
84859750926
-
Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey
-
Ozturk C, Halicioglu O, Coker I, Gulez N, Sutcuoglu S, Karaca N, et al. Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey. Clin Rheumatol. 2012;31(3):493-501.
-
(2012)
Clin Rheumatol.
, vol.31
, Issue.3
, pp. 493-501
-
-
Ozturk, C.1
Halicioglu, O.2
Coker, I.3
Gulez, N.4
Sutcuoglu, S.5
Karaca, N.6
-
15
-
-
84872360784
-
Familial Mediterranean fever - An increasingly important childhood disease in Sweden
-
1:STN:280:DC%2BC3s7nsFSlsw%3D%3D 23194659
-
Wekell P, Friman V, Balci-Peynircioglu B, Yilmaz E, Fasth A, Berg S. Familial Mediterranean fever - an increasingly important childhood disease in Sweden. Acta Paediatr. 2013;102(2):193-8.
-
(2013)
Acta Paediatr
, vol.102
, Issue.2
, pp. 193-198
-
-
Wekell, P.1
Friman, V.2
Balci-Peynircioglu, B.3
Yilmaz, E.4
Fasth, A.5
Berg, S.6
-
16
-
-
0035882523
-
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
-
1:STN:280:DC%2BD3MvjslektQ%3D%3D 11484206
-
Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, et al. 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. Am J Med Genet. 2001;102(3):272-6.
-
(2001)
Am J Med Genet
, vol.102
, Issue.3
, pp. 272-276
-
-
Kogan, A.1
Shinar, Y.2
Lidar, M.3
Revivo, A.4
Langevitz, P.5
Padeh, S.6
-
17
-
-
79957627334
-
Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever
-
21598806
-
Kilim Y, Magal N, Shohat M. Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever. Isr Med Assoc J. 2011;13(4):206-8.
-
(2011)
Isr Med Assoc J
, vol.13
, Issue.4
, pp. 206-208
-
-
Kilim, Y.1
Magal, N.2
Shohat, M.3
-
18
-
-
23444451748
-
Evaluation of disease severity in familial Mediterranean fever
-
Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S, et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum. 2005;35(1):57-64.
-
(2005)
Semin Arthritis Rheum
, vol.35
, Issue.1
, pp. 57-64
-
-
Mor, A.1
Shinar, Y.2
Zaks, N.3
Langevitz, P.4
Chetrit, A.5
Shtrasburg, S.6
-
19
-
-
0041402652
-
Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever
-
1:CAS:528:DC%2BD3sXnt1yksr8%3D 12929299
-
Zaks N, Shinar Y, Padeh S, Lidar M, Mor A, Tokov I, et al. Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. Isr Med Assoc J. 2003;5(8):585-8.
-
(2003)
Isr Med Assoc J
, vol.5
, Issue.8
, pp. 585-588
-
-
Zaks, N.1
Shinar, Y.2
Padeh, S.3
Lidar, M.4
Mor, A.5
Tokov, I.6
-
20
-
-
34248571365
-
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
-
Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56(5):1706-12.
-
(2007)
Arthritis Rheum
, vol.56
, Issue.5
, pp. 1706-1712
-
-
Touitou, I.1
Sarkisian, T.2
Medlej-Hashim, M.3
Tunca, M.4
Livneh, A.5
Cattan, D.6
-
21
-
-
84878558322
-
Familial Mediterranean fever in heterozygotes: Are we able to accurately diagnose the disease in very young children?
-
Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jeru I. Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum. 2013;65(6):1654-62.
-
(2013)
Arthritis Rheum
, vol.65
, Issue.6
, pp. 1654-1662
-
-
Hentgen, V.1
Grateau, G.2
Stankovic-Stojanovic, K.3
Amselem, S.4
Jeru, I.5
-
22
-
-
84887831221
-
Genotype-phenotype and genotype-origin correlations in children with Mediterranean fever in Germany - An AID-Net study
-
1:STN:280:DC%2BC2c%2Fps12gtA%3D%3D 24158885
-
Jeske M, Lohse P, Kallinich T, Berger T, Rietschel C, Holzinger D, et al. Genotype-phenotype and genotype-origin correlations in children with Mediterranean fever in Germany - an AID-Net study. Klin Padiatr. 2013;225(6):325-30.
-
(2013)
Klin Padiatr
, vol.225
, Issue.6
, pp. 325-330
-
-
Jeske, M.1
Lohse, P.2
Kallinich, T.3
Berger, T.4
Rietschel, C.5
Holzinger, D.6
-
23
-
-
67650034998
-
The clinical spectrum of 94 patients carrying a single mutated MEFV allele
-
1:CAS:528:DC%2BD1MXnslKhu70%3D
-
Kone-Paut I, Hentgen V, Guillaume-Czitrom S, Compeyrot-Lacassagne S, Tran TA, Touitou I. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford). 2009;48(7):840-2.
-
(2009)
Rheumatology (Oxford)
, vol.48
, Issue.7
, pp. 840-842
-
-
Kone-Paut, I.1
Hentgen, V.2
Guillaume-Czitrom, S.3
Compeyrot-Lacassagne, S.4
Tran, T.A.5
Touitou, I.6
-
24
-
-
76649095327
-
Familial Mediterranean fever in Ashkenazi Jews: The mild end of the clinical spectrum
-
Lidar M, Kedem R, Berkun Y, Langevitz P, Livneh A. Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum. J Rheumatol. 2010;37(2):422-5.
-
(2010)
J Rheumatol
, vol.37
, Issue.2
, pp. 422-425
-
-
Lidar, M.1
Kedem, R.2
Berkun, Y.3
Langevitz, P.4
Livneh, A.5
-
25
-
-
0031983713
-
Clinical differences between North African and Iraqi Jews with familial Mediterranean fever
-
1:STN:280:DyaK1c7htFeltA%3D%3D 9450890
-
Pras E, Livneh A, Balow Jr JE, Kastner DL, Pras M, Langevitz P. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet. 1998;75(2):216-9.
-
(1998)
Am J Med Genet
, vol.75
, Issue.2
, pp. 216-219
-
-
Pras, E.1
Livneh, A.2
Balow, Jr.J.E.3
Kastner, D.L.4
Pras, M.5
Langevitz, P.6
-
26
-
-
0033527626
-
Late-onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics
-
1:STN:280:DyaK1MvlvVGktA%3D%3D 10528243
-
Tamir N, Langevitz P, Zemer D, Pras E, Shinar Y, Padeh S, et al. Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Med Genet. 1999;87(1):30-5.
-
(1999)
Am J Med Genet
, vol.87
, Issue.1
, pp. 30-35
-
-
Tamir, N.1
Langevitz, P.2
Zemer, D.3
Pras, E.4
Shinar, Y.5
Padeh, S.6
-
27
-
-
84892186708
-
Colchicine-free remission in familial Mediterranean fever: Featuring a unique subset of the disease-A case control study
-
Ben-Zvi I, Krichely-Vachdi T, Feld O, Lidar M, Kivity S, Livneh A. Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study. Orphanet J Rare Dis. 2014;9(1):3.
-
(2014)
Orphanet J Rare Dis
, vol.9
, Issue.1
, pp. 3
-
-
Ben-Zvi, I.1
Krichely-Vachdi, T.2
Feld, O.3
Lidar, M.4
Kivity, S.5
Livneh, A.6
-
28
-
-
79651473433
-
Chronic inflammation in FMF: Markers, risk factors, outcomes and therapy
-
1:CAS:528:DC%2BC3MXhsVSku7c%3D 21060333
-
Ben-Zvi I, Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol. 2011;7(2):105-12.
-
(2011)
Nat Rev Rheumatol
, vol.7
, Issue.2
, pp. 105-112
-
-
Ben-Zvi, I.1
Livneh, A.2
-
29
-
-
84922464191
-
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
-
Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, et al. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2015;74(3):603-10.
-
(2015)
Ann Rheum Dis.
, vol.74
, Issue.3
, pp. 603-610
-
-
Nakagawa, K.1
Gonzalez-Roca, E.2
Souto, A.3
Kawai, T.4
Umebayashi, H.5
Campistol, J.M.6
-
30
-
-
80155148684
-
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an International Multicenter Collaborative Study
-
1:CAS:528:DC%2BC3MXhtlOksLnP 21702021
-
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011;63(11):3625-32.
-
(2011)
Arthritis Rheum
, vol.63
, Issue.11
, pp. 3625-3632
-
-
Tanaka, N.1
Izawa, K.2
Saito, M.K.3
Sakuma, M.4
Oshima, K.5
Ohara, O.6
|