-
1
-
-
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 Ashkenasi Jewish population
-
Aksentijevich I., Torosyan Y., Samuels J., Centola M., Pras E., Chae J.J., Oddoux C., Wood G., Azzaro M.P., Palumbo G., Giustolisi R., Pras M., Oster H., and Kastner D.L. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenasi Jewish population. Am. J. Hum. Genet. 64 (1999) 949-962
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 949-962
-
-
Aksentijevich, I.1
Torosyan, Y.2
Samuels, J.3
Centola, M.4
Pras, E.5
Chae, J.J.6
Oddoux, C.7
Wood, G.8
Azzaro, M.P.9
Palumbo, G.10
Giustolisi, R.11
Pras, M.12
Oster, H.13
Kastner, D.L.14
-
2
-
-
0242468414
-
H.I. El-Shanti, Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population
-
Al-Alami J.R., Tayeh M.K., Najib D.A., Abu-Rubaiha Z.A., Majeed H.A., and El-Khateeb M.S. H.I. El-Shanti, Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med. J. 24 10 (2003) 1055-1059
-
(2003)
Saudi Med. J.
, vol.24
, Issue.10
, pp. 1055-1059
-
-
Al-Alami, J.R.1
Tayeh, M.K.2
Najib, D.A.3
Abu-Rubaiha, Z.A.4
Majeed, H.A.5
El-Khateeb, M.S.6
-
3
-
-
7344255810
-
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
-
Bernot A., da Silva C., Petit J.-L., Cruaud C., Caloustian C., Castet V., Ahmed-Arab M., Dross C., Dupont M., Cattan D., Smaoui N., Dodé C., Pêcheux C., Nédelec B., Medaxian J., Rozenbaum M., Rosner I., Delpech M., Grateau G., Demaille J., Weissenbach J., and Touitou I. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum. Mol. Genet. 7 (1998) 1317-1325
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1317-1325
-
-
Bernot, A.1
da Silva, C.2
Petit, J.-L.3
Cruaud, C.4
Caloustian, C.5
Castet, V.6
Ahmed-Arab, M.7
Dross, C.8
Dupont, M.9
Cattan, D.10
Smaoui, N.11
Dodé, C.12
Pêcheux, C.13
Nédelec, B.14
Medaxian, J.15
Rozenbaum, M.16
Rosner, I.17
Delpech, M.18
Grateau, G.19
Demaille, J.20
Weissenbach, J.21
Touitou, I.22
more..
-
4
-
-
0033124080
-
Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients
-
Brik R., Shinawi M., Kepten I., Bernat M., and Gershoni-Baruch R. Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 103 (1999) e70
-
(1999)
Pediatrics
, vol.103
-
-
Brik, R.1
Shinawi, M.2
Kepten, I.3
Bernat, M.4
Gershoni-Baruch, R.5
-
5
-
-
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., Dervichian M., Nédelec B., Reinert P., Ayvazyan A., Kouyoumdjian J.-C., Ajrapetyan H., Delpech M., Goossens M., Dode C., Grateau G., and Amselem S. 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. 65 (1999) 88-97
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 88-97
-
-
Cazeneuve, C.1
Sarkisian, T.2
Pêcheux, C.3
Dervichian, M.4
Nédelec, B.5
Reinert, P.6
Ayvazyan, A.7
Kouyoumdjian, J.-C.8
Ajrapetyan, H.9
Delpech, M.10
Goossens, M.11
Dode, C.12
Grateau, G.13
Amselem, S.14
-
6
-
-
0031977279
-
Assessment of Pyrin gene mutations in Turks with familial Mediterranean fever (FMF)
-
Chen X., Fischel-Ghodsian N., Cercek A., Hamon M., Ogur G., Lotan R., Danon Y., and Shohat M. Assessment of Pyrin gene mutations in Turks with familial Mediterranean fever (FMF). Hum. Mutat. 11 6 (1998) 456-460
-
(1998)
Hum. Mutat.
, vol.11
, Issue.6
, pp. 456-460
-
-
Chen, X.1
Fischel-Ghodsian, N.2
Cercek, A.3
Hamon, M.4
Ogur, G.5
Lotan, R.6
Danon, Y.7
Shohat, M.8
-
7
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
Livneh A., Langevitz P., Zemer D., Zaks N., Kees S., Lidar T., Migdal A., Padeh S., and Pras M. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 40 10 (1997) 1879-1885
-
(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
Migdal, A.7
Padeh, S.8
Pras, M.9
-
8
-
-
0035146714
-
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
-
Mansour I., Delague V., Cazeneuve C., Dodé C., Chouery E., Pêcheux C., Medlej-Hashim M., Salem N., El Zein L., Levan-Petit I., Lefranc G., Goossens M., Delpech M., Amselem S., Loiselet J., Grateau G., Mégarbané A., and Naman R. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur. J. Hum. Genet. 9 (2001) 51-55
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 51-55
-
-
Mansour, I.1
Delague, V.2
Cazeneuve, C.3
Dodé, C.4
Chouery, E.5
Pêcheux, C.6
Medlej-Hashim, M.7
Salem, N.8
El Zein, L.9
Levan-Petit, I.10
Lefranc, G.11
Goossens, M.12
Delpech, M.13
Amselem, S.14
Loiselet, J.15
Grateau, G.16
Mégarbané, A.17
Naman, R.18
-
9
-
-
0034164558
-
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
-
Medlej-Hashim M., Rawashdeh M., Chouery E., Mansour I., Delague V., Lefranc G., Naman R., Loiselet J., and Mégarbané A. Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients. Hum. Mutat. 15 4 (2000) 384
-
(2000)
Hum. Mutat.
, vol.15
, Issue.4
, pp. 384
-
-
Medlej-Hashim, M.1
Rawashdeh, M.2
Chouery, E.3
Mansour, I.4
Delague, V.5
Lefranc, G.6
Naman, R.7
Loiselet, J.8
Mégarbané, A.9
-
10
-
-
2542487537
-
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
-
Medlej-Hashim M., Delague V., Chouery E., Salem N., Rawashdeh M., Lefranc G., Loiselet J., and Megarbane A. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med. Genet. 5 (2004) 4
-
(2004)
BMC Med. Genet.
, vol.5
, pp. 4
-
-
Medlej-Hashim, M.1
Delague, V.2
Chouery, E.3
Salem, N.4
Rawashdeh, M.5
Lefranc, G.6
Loiselet, J.7
Megarbane, A.8
-
11
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dynes D.D., and Polesky F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 3 (1988) 1215
-
(1988)
Nucleic Acids Res.
, vol.16
, Issue.3
, pp. 1215
-
-
Miller, S.A.1
Dynes, D.D.2
Polesky, F.3
-
12
-
-
0035914452
-
Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
-
Richards N., Schaner P., Diaz A., Stuckey J., Shelden E., Wadhwa A., and Gumucio D.L. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J. Biol. Chem. 276 42 (2001) 39320-39329
-
(2001)
J. Biol. Chem.
, vol.276
, Issue.42
, pp. 39320-39329
-
-
Richards, N.1
Schaner, P.2
Diaz, A.3
Stuckey, J.4
Shelden, E.5
Wadhwa, A.6
Gumucio, D.L.7
-
13
-
-
0024446455
-
Familial Mediterranean fever in Armenians: recessive inheritance with high gene frequency
-
Rogers D., Shohat M., Petersen G., Bickal J., Congleton J., Schwabe A., and Rotter J. Familial Mediterranean fever in Armenians: recessive inheritance with high gene frequency. Am. J. Med. Genet. 34 (1989) 168-172
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 168-172
-
-
Rogers, D.1
Shohat, M.2
Petersen, G.3
Bickal, J.4
Congleton, J.5
Schwabe, A.6
Rotter, J.7
-
14
-
-
0014118417
-
Familial Mediterranean fever: a survey of 470 cases and review of the literature
-
Sohar E., Gafni J., Pras M., and Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Ann. J. Med. 43 (1967) 227-253
-
(1967)
Ann. J. Med.
, vol.43
, pp. 227-253
-
-
Sohar, E.1
Gafni, J.2
Pras, M.3
Heller, H.4
-
15
-
-
0034091243
-
Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups
-
Stoffman N., Magal N., Shohat T., Lotan R., Koman S., Oron A., Danon Y., Halpern G.J., Lifshitz Y., and Shohat M. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur. J. Hum. Genet. 8 (2000) 307-310
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 307-310
-
-
Stoffman, N.1
Magal, N.2
Shohat, T.3
Lotan, R.4
Koman, S.5
Oron, A.6
Danon, Y.7
Halpern, G.J.8
Lifshitz, Y.9
Shohat, M.10
-
16
-
-
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. 17 (1997) 25-31
-
(1997)
Nat. Genet.
, vol.17
, pp. 25-31
-
-
-
17
-
-
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 90 (1997) 797-807
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
18
-
-
0034879132
-
The spectrum of familial Mediterranean fever (FMF) mutations
-
Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur. J. Hum. Genet. 9 (2001) 473-483
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 473-483
-
-
Touitou, I.1
-
19
-
-
0035147039
-
The MICA region determines the first modifier locus in familial Mediterranean fever
-
Touitou I., Picot M.C., Domingo C., Notarnicola C., Cattan D., Demaille J., and Koné-Paut I. The MICA region determines the first modifier locus in familial Mediterranean fever. Arth. Rheum. 44 1 (2001) 163-169
-
(2001)
Arth. Rheum.
, vol.44
, Issue.1
, pp. 163-169
-
-
Touitou, I.1
Picot, M.C.2
Domingo, C.3
Notarnicola, C.4
Cattan, D.5
Demaille, J.6
Koné-Paut, I.7
-
20
-
-
4143125654
-
Infevers: an evolving mutation database for auto-inflammatory syndromes
-
Touitou I., Lesage S., McDermott M., Cuisset L., Hoffman H., Dode C., Shoham N., Aganna E., Hugot J.P., Wise C., Waterham H., Pugnere D., Demaille J., and Sarrauste de Menthiere C. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum. Mutat. 24 3 (2004) 194-198
-
(2004)
Hum. Mutat.
, vol.24
, Issue.3
, pp. 194-198
-
-
Touitou, I.1
Lesage, S.2
McDermott, M.3
Cuisset, L.4
Hoffman, H.5
Dode, C.6
Shoham, N.7
Aganna, E.8
Hugot, J.P.9
Wise, C.10
Waterham, H.11
Pugnere, D.12
Demaille, J.13
Sarrauste de Menthiere, C.14
|