-
1
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
The International FMF Consortium
-
The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797-807.
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
2
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
The French FMF Consortium
-
The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
-
3
-
-
4143125654
-
Infevers: An evolving mutation database for auto-inflammatory syndromes
-
Touitou I, Lesage S, McDermott M, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mut 2004;24:194-8.
-
(2004)
Hum Mut
, vol.24
, pp. 194-198
-
-
Touitou, I.1
Lesage, S.2
McDermott, M.3
-
4
-
-
35348934890
-
Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants
-
Yu JW, Fernandes-Alnemri T, Datta P, et al. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell 2007;28:214-27.
-
(2007)
Mol Cell
, vol.28
, pp. 214-227
-
-
Yu, J.W.1
Fernandes-Alnemri, T.2
Datta, P.3
-
5
-
-
0344823965
-
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
-
Shoham NG, Centola M, Mansfield E, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA 2003;100:13501-6.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 13501-13506
-
-
Shoham, N.G.1
Centola, M.2
Mansfield, E.3
-
6
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879-85.
-
(1997)
Arthritis Rheum
, vol.40
, pp. 1879-1885
-
-
Livneh, A.1
Langevitz, P.2
Zemer, D.3
-
7
-
-
18244429610
-
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
-
Aksentijevich I, Torosyan Y, Samuels J, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999;64:949-62.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 949-962
-
-
Aksentijevich, I.1
Torosyan, Y.2
Samuels, J.3
-
8
-
-
3042595928
-
The New York Cancer Project: Rationale, organization, design, and baseline characteristics
-
Mitchell MK, Gregersen PK, Johnson S, et al. The New York Cancer Project: rationale, organization, design, and baseline characteristics. J Urban Health 2004;81:301-10.
-
(2004)
J Urban Health
, vol.81
, pp. 301-310
-
-
Mitchell, M.K.1
Gregersen, P.K.2
Johnson, S.3
-
9
-
-
0035967880
-
FUGUE: Sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties
-
Shi J, Blundell TL, Mizuguchi K. FUGUE: sequence-structure homology recognition using environment-specific substitution tables and structure-dependent gap penalties. J Mol Biol 2001;310:243-57.
-
(2001)
J Mol Biol
, vol.310
, pp. 243-257
-
-
Shi, J.1
Blundell, T.L.2
Mizuguchi, K.3
-
10
-
-
0031473847
-
SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
-
Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997;18:2714-23.
-
(1997)
Electrophoresis
, vol.18
, pp. 2714-2723
-
-
Guex, N.1
Peitsch, M.C.2
-
11
-
-
63249101990
-
A new set of criteria for the diagnosis of familial Mediterranean fever in childhood
-
Yalçinkaya F, Ozen S, Ozçakar ZB, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009;48:395-8.
-
(2009)
Rheumatology (Oxford)
, vol.48
, pp. 395-398
-
-
Yalçinkaya, F.1
Ozen, S.2
Ozçakar, Z.B.3
-
12
-
-
0033362158
-
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications
-
Cazeneuve C, Sarkisian T, Pêcheux C, et al. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 1999;65:88-97.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 88-97
-
-
Cazeneuve, C.1
Sarkisian, T.2
Pêcheux, C.3
-
13
-
-
0034879132
-
The spectrum of Familial Mediterranean Fever (FMF) mutations
-
Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001;9:473-83.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 473-483
-
-
Touitou, I.1
-
14
-
-
39149115353
-
Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations
-
Sugiura T, Kawaguchi Y, Fujikawa S, et al. Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations. Mod Rheumatol 2008;18:57-9.
-
(2008)
Mod Rheumatol
, vol.18
, pp. 57-59
-
-
Sugiura, T.1
Kawaguchi, Y.2
Fujikawa, S.3
-
15
-
-
13444311552
-
Infliximab therapy in a patient with familial Mediterranean fever and chronic hip arthritis
-
Daysal S, Akcil G, Goker B, et al. Infliximab therapy in a patient with familial Mediterranean fever and chronic hip arthritis. Arthritis Rheum 2005;53:146-7.
-
(2005)
Arthritis Rheum
, vol.53
, pp. 146-147
-
-
Daysal, S.1
Akcil, G.2
Goker, B.3
-
16
-
-
77955434535
-
Alternative treatments in colchicine-resistant patients with familial Mediterranean fever (FMF). FMF and beyond
-
Seyahi E, Yazici H, Ozdogan H. Alternative treatments in colchicine-resistant patients with familial Mediterranean fever (FMF). FMF and beyond. In The Fourth International Congress on Systemic Autoinflammatory Diseases. November 2005, Bethesda, MD, 2005.
-
(2005)
The Fourth International Congress on Systemic Autoinflammatory Diseases. November 2005, Bethesda, MD
-
-
Seyahi, E.1
Yazici, H.2
Ozdogan, H.3
-
17
-
-
0022540240
-
Primary localized amyloidosis presenting as an eyelid margin tumor
-
Fett DR, Putterman AM. Primary localized amyloidosis presenting as an eyelid margin tumor. Arch Ophthalmol 1986;104:584-5.
-
(1986)
Arch Ophthalmol
, vol.104
, pp. 584-585
-
-
Fett, D.R.1
Putterman, A.M.2
-
18
-
-
0034842807
-
Nodular cutaneous amyloid tumors of the eyelids in the absence of systemic amyloidosis
-
Pelton RW, Desmond BP, Mamalis N, et al. Nodular cutaneous amyloid tumors of the eyelids in the absence of systemic amyloidosis. Ophthalmic Surg Lasers 2001;32:422-4.
-
(2001)
Ophthalmic Surg Lasers
, vol.32
, pp. 422-424
-
-
Pelton, R.W.1
Desmond, B.P.2
Mamalis, N.3
-
19
-
-
33645546138
-
Primary localised nodular amyloidosis of the eyelid and conjunctiva: A case report
-
Mahajan D, Yadava U, Khurana N, et al. Primary localised nodular amyloidosis of the eyelid and conjunctiva: a case report. Pathology 2006;38:189-90.
-
(2006)
Pathology
, vol.38
, pp. 189-190
-
-
Mahajan, D.1
Yadava, U.2
Khurana, N.3
-
20
-
-
0034031649
-
The genetic basis of autosomal dominant familial Mediterranean fever
-
Booth DR, Gillmore JD, Lachmann HJ, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000;93:217-21.
-
(2000)
QJM
, vol.93
, pp. 217-221
-
-
Booth, D.R.1
Gillmore, J.D.2
Lachmann, H.J.3
-
22
-
-
0034782528
-
Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148
-
Booth DR, Lachmann HJ, Gillmore JD, et al. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. QJM 2001;94:527-31.
-
(2001)
QJM
, vol.94
, pp. 527-531
-
-
Booth, D.R.1
Lachmann, H.J.2
Gillmore, J.D.3
-
23
-
-
0034164577
-
The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?
-
Ben-Chetrit E, Lerer I, Malamud E, et al. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 2000;15:385-6.
-
(2000)
Hum Mutat
, vol.15
, pp. 385-386
-
-
Ben-Chetrit, E.1
Lerer, I.2
Malamud, E.3
-
24
-
-
33747785963
-
Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever
-
Tchernitchko DO, Gérard-Blanluet M, Legendre M, et al. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Ann Rheum Dis 2006;65:1154-7.
-
(2006)
Ann Rheum Dis
, vol.65
, pp. 1154-1157
-
-
Tchernitchko, D.O.1
Gérard-Blanluet, M.2
Legendre, M.3
-
25
-
-
2142857251
-
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
-
Tchernitchko D, Legendre M, Cazeneuve C, et al. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 2003;22:339-40.
-
(2003)
Hum Mutat
, vol.22
, pp. 339-340
-
-
Tchernitchko, D.1
Legendre, M.2
Cazeneuve, C.3
-
26
-
-
12844250597
-
Familial Mediterranean fever and E148Q pyrin gene mutation in Greece
-
Konstantopoulos K, Kanta A, Lilakos K, et al. Familial Mediterranean fever and E148Q pyrin gene mutation in Greece. Int J Hematol 2005;81:26-8.
-
(2005)
Int J Hematol
, vol.81
, pp. 26-28
-
-
Konstantopoulos, K.1
Kanta, A.2
Lilakos, K.3
-
27
-
-
17644365482
-
E148Q is a disease-causing MEFV mutation: A phenotypic evaluation in patients with familial Mediterranean fever
-
Topaloglu R, Ozaltin F, Yilmaz E, et al. E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis 2005;64:750-2.
-
(2005)
Ann Rheum Dis
, vol.64
, pp. 750-752
-
-
Topaloglu, R.1
Ozaltin, F.2
Yilmaz, E.3
-
28
-
-
0035091156
-
Episodic evolution of pyrin in primates: Human mutations recapitulate ancestral amino acid states
-
Schaner P, Richards N, Wadhwa A, et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001;27:318-21.
-
(2001)
Nat Genet
, vol.27
, pp. 318-321
-
-
Schaner, P.1
Richards, N.2
Wadhwa, A.3
-
29
-
-
34548815697
-
Lessons from a genomewide association study of rheumatoid arthritis
-
Yamamoto K, Yamada R. Lessons from a genomewide association study of rheumatoid arthritis. N Engl J Med 2007;357:1250-1.
-
(2007)
N Engl J Med
, vol.357
, pp. 1250-1251
-
-
Yamamoto, K.1
Yamada, R.2
-
30
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695-701.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
31
-
-
35648942837
-
Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness
-
Singh-Grewal D, Chaitow J, Aksentijevich I, et al. Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Ann Rheum Dis 2007;66:1541.
-
(2007)
Ann Rheum Dis
, vol.66
, pp. 1541
-
-
Singh-Grewal, D.1
Chaitow, J.2
Aksentijevich, I.3
-
32
-
-
33750292903
-
Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations
-
Touitou I, Perez C, Dumont B, et al. Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations. Ann Rheum Dis 2006;65:1530-1.
-
(2006)
Ann Rheum Dis
, vol.65
, pp. 1530-1531
-
-
Touitou, I.1
Perez, C.2
Dumont, B.3
-
33
-
-
27344448749
-
Familial autoinflammatory diseases: Genetics, pathogenesis and treatment
-
Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005;17:586-99.
-
(2005)
Curr Opin Rheumatol
, vol.17
, pp. 586-599
-
-
Stojanov, S.1
Kastner, D.L.2
|