-
1
-
-
18244429610
-
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency reduced penetrance in the Ashkenazi Jewish population
-
Aksentijevich I, Torosyan Y, Samuels J, et al. (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 64:949-962.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 949-962
-
-
Aksentijevich, I1
Torosyan, Y2
Samuels, J3
-
2
-
-
2342558725
-
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ''hot-spot'' at the MEFV locus
-
Aldea A, Calafell F, Aróstegui JI, et al. (2004) The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ''hot-spot'' at the MEFV locus. Hum Mutat 23:399-406.
-
(2004)
Hum Mutat
, vol.23
, pp. 399-406
-
-
Aldea, A1
Calafell, F2
Aróstegui, JI3
-
3
-
-
0032574208
-
Familial Mediterranean fever
-
Ben-Chetrit E, Levy M (1998) Familial Mediterranean fever. Lancet 351:659-664.
-
(1998)
Lancet
, vol.351
, pp. 659-664
-
-
Ben-Chetrit, E1
Levy, M2
-
4
-
-
41449102220
-
Different intra-familial clinical presentation of FMF mutation carriers
-
Chalevelakis G, Apostolakis I, Koliou X, et al. (2008) Different intra-familial clinical presentation of FMF mutation carriers. Genet Test 12:125-127.
-
(2008)
Genet Test
, vol.12
, pp. 125-127
-
-
Chalevelakis, G1
Apostolakis, I2
Koliou, X3
-
5
-
-
0036016985
-
Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
-
Deltas CC, Mean R, Rossou E, et al. (2002) Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test 6:15-21.
-
(2002)
Genet Test
, vol.6
, pp. 15-21
-
-
Deltas, CC1
Mean, R2
Rossou, E3
-
6
-
-
0032190074
-
Diagnosis of familial Mediterranean fever by a molecular genetics method
-
Eisenberg S, Aksentijevich I, Deng Z, et al. (1998) Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 129:539-542.
-
(1998)
Ann Intern Med
, vol.129
, pp. 539-542
-
-
Eisenberg, S1
Aksentijevich, I2
Deng, Z3
-
7
-
-
38349115445
-
Familial Mediterranean fever in Crete: a genetic and structural biological approach in a population of intermediate risk
-
Fragouli E, Eliopoulos E, Petraki E, et al. (2008) Familial Mediterranean fever in Crete: a genetic and structural biological approach in a population of intermediate risk. Clin Genet 73: 152-159.
-
(2008)
Clin Genet
, vol.73
, pp. 152-159
-
-
Fragouli, E1
Eliopoulos, E2
Petraki, E3
-
8
-
-
0036224497
-
The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
-
Gershoni-Baruch R, Brik R, Shinawi M, Livneh A (2002) The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 10: 145-149.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 145-149
-
-
Gershoni-Baruch, R1
Brik, R2
Shinawi, M3
Livneh, A4
-
9
-
-
34248351562
-
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever
-
Giaglis S, Papadopoulos V, Kambas K, et al. (2007) MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 71:458-467.
-
(2007)
Clin Genet
, vol.71
, pp. 458-467
-
-
Giaglis, S1
Papadopoulos, V2
Kambas, K3
-
10
-
-
0343963221
-
Clinical versus genetic diagnosis of familial Mediterranean fever
-
Grateau G, Pecheux C, Cazeneuve C, et al. (2000) Clinical versus genetic diagnosis of familial Mediterranean fever. QJM 93: 223-229.
-
(2000)
QJM
, vol.93
, pp. 223-229
-
-
Grateau, G1
Pecheux, C2
Cazeneuve, C3
-
11
-
-
27144550778
-
Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Çkurova region (Turkey)
-
Gunesacar R, Kasap H, Erken E, Ozer HT (2005) Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Çkurova region (Turkey). Genet Test 9:220-225.
-
(2005)
Genet Test
, vol.9
, pp. 220-225
-
-
Gunesacar, R1
Kasap, H2
Erken, E3
Ozer, HT4
-
12
-
-
0037405561
-
Familial Mediterranean fever associated pyrin mutations in Greece
-
Konstantopoulos K, Kanta A, Deltas C, et al. (2003) Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis 62:479-481.
-
(2003)
Ann Rheum Dis
, vol.62
, pp. 479-481
-
-
Konstantopoulos, K1
Kanta, A2
Deltas, C3
-
13
-
-
0037262046
-
Familial Mediterranean fever is no longer a rare disease in Italy
-
La Regina M, Nucera G, Diaco M, et al. (2003) Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 11:50-56.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 50-56
-
-
La Regina, M1
Nucera, G2
Diaco, M3
-
14
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
Livneh A, Langevitz P, Zemer D, et al. (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879-1885.
-
(1997)
Arthritis Rheum
, vol.40
, pp. 1879-1885
-
-
Livneh, A1
Langevitz, P2
Zemer, D3
-
15
-
-
19544380739
-
The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series
-
Majeed H, El-Khateeb M, El-Shanti H, et al. (2005) The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. Semin Arthritis Rheum 34:813-818.
-
(2005)
Semin Arthritis Rheum
, vol.34
, pp. 813-818
-
-
Majeed, H1
El-Khateeb, M2
El-Shanti, H3
-
16
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, SA1
Dykes, DD2
Polesky, HF3
-
17
-
-
11144354882
-
Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
-
Ritis K, Giaglis S, Spathari N, et al. (2004) Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients. Ann Rheum Dis 63:438-443.
-
(2004)
Ann Rheum Dis
, vol.63
, pp. 438-443
-
-
Ritis, K1
Giaglis, S2
Spathari, N3
-
18
-
-
24144453542
-
Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by lightcycler real-time PCR
-
Rossou E, Kouvatsi A, Aslanidis C, Deltas C (2005) Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by lightcycler real-time PCR. Clin Chem 51:1725-1727.
-
(2005)
Clin Chem
, vol.51
, pp. 1725-1727
-
-
Rossou, E1
Kouvatsi, A2
Aslanidis, C3
Deltas, C4
-
19
-
-
0014118417
-
Familial Mediterranean fever. A survey of 470 cases and review of the literature
-
Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 43:227-253.
-
(1967)
Am J Med
, vol.43
, pp. 227-253
-
-
Sohar, E1
Gafni, J2
Pras, M3
Heller, H4
-
20
-
-
23244462579
-
Japanese case of familial Mediterranean fever with homozygosity for the pyrin E148Q mutation
-
Suzuki T, Nakamura A, Yazaki M, Ikeda SA (2005) Japanese case of familial Mediterranean fever with homozygosity for the pyrin E148Q mutation. Intern Med 44:765-766.
-
(2005)
Intern Med
, vol.44
, pp. 765-766
-
-
Suzuki, T1
Nakamura, A2
Yazaki, M3
Ikeda, SA4
-
21
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
The French FMF Consortium
-
The French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17(1):25-31.
-
(1997)
Nat Genet
, vol.17
, Issue.1
, pp. 25-31
-
-
-
22
-
-
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 (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797-807.
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
|