-
1
-
-
0023894493
-
A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients
-
Prieur A.M., Griscelli C., Lampert F., Truckenbrodt H., Guggenheim M.A., Lovell D.J., et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl 66 (1987) 57-68
-
(1987)
Scand J Rheumatol Suppl
, vol.66
, pp. 57-68
-
-
Prieur, A.M.1
Griscelli, C.2
Lampert, F.3
Truckenbrodt, H.4
Guggenheim, M.A.5
Lovell, D.J.6
-
2
-
-
0035098521
-
A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy
-
Prieur A.M. A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 19 (2001) 103-106
-
(2001)
Clin Exp Rheumatol
, vol.19
, pp. 103-106
-
-
Prieur, A.M.1
-
3
-
-
13444291902
-
Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases
-
Kilcline C., Shinkai K., Bree A., Modica R., Von Scheven E., and Frieden I.J. Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Arch Dermatol 141 (2005) 248-253
-
(2005)
Arch Dermatol
, vol.141
, pp. 248-253
-
-
Kilcline, C.1
Shinkai, K.2
Bree, A.3
Modica, R.4
Von Scheven, E.5
Frieden, I.J.6
-
4
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
Feldmann J., Prieur A.M., Quartier P., Berquin P., Certain S., Cortis E., et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71 (2002) 198-203
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
-
5
-
-
1042290321
-
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra
-
Hawkins P.N., Lachmann H.J., Aganna E., and McDermott M.F. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50 (2004) 607-612
-
(2004)
Arthritis Rheum
, vol.50
, pp. 607-612
-
-
Hawkins, P.N.1
Lachmann, H.J.2
Aganna, E.3
McDermott, M.F.4
-
6
-
-
0344010225
-
Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome
-
Federico G., Rigante D., Pugliese A.L., Ranno O., Catania S., and Stabile A. Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome. Scand J Rheumatol 32 (2003) 312-314
-
(2003)
Scand J Rheumatol
, vol.32
, pp. 312-314
-
-
Federico, G.1
Rigante, D.2
Pugliese, A.L.3
Ranno, O.4
Catania, S.5
Stabile, A.6
-
7
-
-
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., et al. 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
-
8
-
-
0034535910
-
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations
-
Toro J.R., Aksentijevich I., Hull K., Dean J., and Kastner D.L. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol 136 (2000) 1487-1494
-
(2000)
Arch Dermatol
, vol.136
, pp. 1487-1494
-
-
Toro, J.R.1
Aksentijevich, I.2
Hull, K.3
Dean, J.4
Kastner, D.L.5
-
9
-
-
0032987982
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
-
Houten S.M., Kuis W., Duran M., de Koning T.J., van Royen-Kerkhof A., Romeijn G.J., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22 (1999) 175-177
-
(1999)
Nat Genet
, vol.22
, pp. 175-177
-
-
Houten, S.M.1
Kuis, W.2
Duran, M.3
de Koning, T.J.4
van Royen-Kerkhof, A.5
Romeijn, G.J.6
-
10
-
-
34548148047
-
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism
-
Hegele R.A., Joy T.R., Al-Attar S.A., and Rutt B.K. Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res 48 (2007) 1433-1444
-
(2007)
J Lipid Res
, vol.48
, pp. 1433-1444
-
-
Hegele, R.A.1
Joy, T.R.2
Al-Attar, S.A.3
Rutt, B.K.4
-
11
-
-
33746578389
-
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy
-
Hegele R.A., Cao H., Liu D.M., Costain G.A., Charlton-Menys V., Rodger N.W., et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet 79 (2006) 383-389
-
(2006)
Am J Hum Genet
, vol.79
, pp. 383-389
-
-
Hegele, R.A.1
Cao, H.2
Liu, D.M.3
Costain, G.A.4
Charlton-Menys, V.5
Rodger, N.W.6
-
12
-
-
18644371065
-
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
-
Van Maldergem L., Magré J., Khallouf T.E., Gedde-Dahl Jr. T., Delépine M., Trygstad O., et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 39 (2002) 722-733
-
(2002)
J Med Genet
, vol.39
, pp. 722-733
-
-
Van Maldergem, L.1
Magré, J.2
Khallouf, T.E.3
Gedde-Dahl Jr., T.4
Delépine, M.5
Trygstad, O.6
-
13
-
-
0036578783
-
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
-
Agarwal A.K., Arioglu E., de Almeida S., Akkoc N., Taylor S.I., Bowcock A.M., et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nature Genet 31 (2002) 21-23
-
(2002)
Nature Genet
, vol.31
, pp. 21-23
-
-
Agarwal, A.K.1
Arioglu, E.2
de Almeida, S.3
Akkoc, N.4
Taylor, S.I.5
Bowcock, A.M.6
-
14
-
-
1542510700
-
Acquired and inherited lipodystrophies
-
Garg A. Acquired and inherited lipodystrophies. N Engl J Med 350 (2004) 1220-1234
-
(2004)
N Engl J Med
, vol.350
, pp. 1220-1234
-
-
Garg, A.1
-
15
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
Cao H., and Hegele R.A. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9 (2000) 109-112
-
(2000)
Hum Mol Genet
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
16
-
-
0036146384
-
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy
-
Agarwal A.K., and Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87 (2002) 408-411
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 408-411
-
-
Agarwal, A.K.1
Garg, A.2
-
17
-
-
0141676014
-
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance
-
Maassen J.A., Tobias E.S., Kayserilli H., Tukel T., Yuksel-Apak M., D'Haens E., et al. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab 88 (2003) 4251-4257
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4251-4257
-
-
Maassen, J.A.1
Tobias, E.S.2
Kayserilli, H.3
Tukel, T.4
Yuksel-Apak, M.5
D'Haens, E.6
-
18
-
-
40949124812
-
Predictors of acquired lipodystrophy in juvenile-onset dermatomyositis and a gradient of severity
-
Bingham A., Mamyrova G., Rother K.I., Oral E., Cochran E., Premkumar A., et al. Predictors of acquired lipodystrophy in juvenile-onset dermatomyositis and a gradient of severity. Medicine (Baltimore) 87 (2008) 70-86
-
(2008)
Medicine (Baltimore)
, vol.87
, pp. 70-86
-
-
Bingham, A.1
Mamyrova, G.2
Rother, K.I.3
Oral, E.4
Cochran, E.5
Premkumar, A.6
-
20
-
-
49249121166
-
Approach to the human immunodeficiency virus-infected patient with lipodystrophy
-
Brown T.T. Approach to the human immunodeficiency virus-infected patient with lipodystrophy. J Clin Endocrinol Metab 93 (2008) 2937-2945
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 2937-2945
-
-
Brown, T.T.1
-
21
-
-
52949120696
-
HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options
-
Mallewa J.E., Wilkins E., Vilar J., Mallewa M., Doran D., Back D., et al. HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options. J Antimicrob Chemother 62 (2008) 648-660
-
(2008)
J Antimicrob Chemother
, vol.62
, pp. 648-660
-
-
Mallewa, J.E.1
Wilkins, E.2
Vilar, J.3
Mallewa, M.4
Doran, D.5
Back, D.6
-
22
-
-
0142248933
-
Sweet's syndrome revisited: a review of disease concepts
-
Cohen P.R., and Kurzrock R. Sweet's syndrome revisited: a review of disease concepts. Int J Dermatol 42 (2003) 761-778
-
(2003)
Int J Dermatol
, vol.42
, pp. 761-778
-
-
Cohen, P.R.1
Kurzrock, R.2
-
23
-
-
0033819812
-
Immature myeloid precursors in chronic neutrophilic dermatosis associated with myelodysplastic syndrome
-
Tomasini C., Aloi F., Osella-Abate S., Dapavo P., and Pippione M. Immature myeloid precursors in chronic neutrophilic dermatosis associated with myelodysplastic syndrome. Am J Dermatopathol 22 (2000) 429-433
-
(2000)
Am J Dermatopathol
, vol.22
, pp. 429-433
-
-
Tomasini, C.1
Aloi, F.2
Osella-Abate, S.3
Dapavo, P.4
Pippione, M.5
-
24
-
-
0037278084
-
Sweet's syndrome and leukemia cutis: a common skin homing mechanism?
-
Vignon-Pennamen M.D., and Aractingi S. Sweet's syndrome and leukemia cutis: a common skin homing mechanism?. Dermatology 206 (2003) 81-84
-
(2003)
Dermatology
, vol.206
, pp. 81-84
-
-
Vignon-Pennamen, M.D.1
Aractingi, S.2
-
25
-
-
23044458153
-
Histiocytoid Sweet syndrome: a dermal infiltration of immature neutrophilic granulocytes
-
Requena L., Kutzner H., Palmedo G., Pascual M., Fernandez-Herrera J., Fraga J., et al. Histiocytoid Sweet syndrome: a dermal infiltration of immature neutrophilic granulocytes. Arch Dermatol 141 (2005) 834-842
-
(2005)
Arch Dermatol
, vol.141
, pp. 834-842
-
-
Requena, L.1
Kutzner, H.2
Palmedo, G.3
Pascual, M.4
Fernandez-Herrera, J.5
Fraga, J.6
-
26
-
-
0018929945
-
Sweet's syndrome in infancy
-
Itami S., and Nishioka K. Sweet's syndrome in infancy. Br J Dermatol 103 (1980) 449-451
-
(1980)
Br J Dermatol
, vol.103
, pp. 449-451
-
-
Itami, S.1
Nishioka, K.2
-
27
-
-
0032895282
-
Persistent Sweet's syndrome occurring in a child with a primary immunodeficiency
-
Lipp K.E., Shenefelt P.D., Nelson Jr. R.P., Messina J.L., and Fenske N.A. Persistent Sweet's syndrome occurring in a child with a primary immunodeficiency. J Am Acad Dermatol 40 (1999) 838-841
-
(1999)
J Am Acad Dermatol
, vol.40
, pp. 838-841
-
-
Lipp, K.E.1
Shenefelt, P.D.2
Nelson Jr., R.P.3
Messina, J.L.4
Fenske, N.A.5
-
28
-
-
6444241358
-
Sweet's syndrome and relapsing polychondritis: is their appearance in the same patient a coincidental occurrence or a bona fide association of these conditions?
-
Cohen P.R. Sweet's syndrome and relapsing polychondritis: is their appearance in the same patient a coincidental occurrence or a bona fide association of these conditions?. Int J Dermatol 43 (2004) 772-777
-
(2004)
Int J Dermatol
, vol.43
, pp. 772-777
-
-
Cohen, P.R.1
-
29
-
-
0036062783
-
Lymphocytic infiltrates as a presenting feature of Sweet's syndrome with myelodysplasia and response to cyclophosphamide
-
Evans A.V., Sabroe R.A., Liddle K., and Russell-Jones R. Lymphocytic infiltrates as a presenting feature of Sweet's syndrome with myelodysplasia and response to cyclophosphamide. Br J Dermatol 146 (2002) 1087-1090
-
(2002)
Br J Dermatol
, vol.146
, pp. 1087-1090
-
-
Evans, A.V.1
Sabroe, R.A.2
Liddle, K.3
Russell-Jones, R.4
-
30
-
-
33645965294
-
Granuloma annulare, relapsing polychondritis, sarcoidosis, and systemic lupus erythematosus: conditions whose dermatologic manifestations may occur as hematologic malignancy-associated mucocutaneous paraneoplastic syndromes
-
Cohen P.R. Granuloma annulare, relapsing polychondritis, sarcoidosis, and systemic lupus erythematosus: conditions whose dermatologic manifestations may occur as hematologic malignancy-associated mucocutaneous paraneoplastic syndromes. Int J Dermatol 45 (2006) 70-80
-
(2006)
Int J Dermatol
, vol.45
, pp. 70-80
-
-
Cohen, P.R.1
-
31
-
-
33748761132
-
Chronic recurrent lymphocytic Sweet's syndrome as a predictive marker of myelodysplasia: a report of 9 cases
-
Vignon-Pennamen M.-D., Juillard C., Rybojad M., Wallach D., Daniel M.T., Morel P., et al. Chronic recurrent lymphocytic Sweet's syndrome as a predictive marker of myelodysplasia: a report of 9 cases. Arch Dermatol 142 (2006) 1170-1176
-
(2006)
Arch Dermatol
, vol.142
, pp. 1170-1176
-
-
Vignon-Pennamen, M.-D.1
Juillard, C.2
Rybojad, M.3
Wallach, D.4
Daniel, M.T.5
Morel, P.6
-
32
-
-
34447300991
-
Myelodysplastic syndromes in children: a critical review of issues in the diagnosis and classification of 887 cases from 13 published series
-
Elghetany M.T. Myelodysplastic syndromes in children: a critical review of issues in the diagnosis and classification of 887 cases from 13 published series. Arch Pathol Lab Med 131 (2007) 1110-1116
-
(2007)
Arch Pathol Lab Med
, vol.131
, pp. 1110-1116
-
-
Elghetany, M.T.1
-
35
-
-
39849084058
-
Congenital leukemia cutis
-
Fender A.B., Gust A., Wang N., Scott G.A., and Mercurio M.G. Congenital leukemia cutis. Pediatr Dermatol 25 (2008) 34-37
-
(2008)
Pediatr Dermatol
, vol.25
, pp. 34-37
-
-
Fender, A.B.1
Gust, A.2
Wang, N.3
Scott, G.A.4
Mercurio, M.G.5
-
36
-
-
12944305737
-
Spontaneous regression of aleukemic congenital leukemia cutis
-
Landers M.C., Malempati S., Tilford D., Gatter K., White C., and Schroeder T.L. Spontaneous regression of aleukemic congenital leukemia cutis. Pediatr Dermatol 22 (2005) 26-30
-
(2005)
Pediatr Dermatol
, vol.22
, pp. 26-30
-
-
Landers, M.C.1
Malempati, S.2
Tilford, D.3
Gatter, K.4
White, C.5
Schroeder, T.L.6
-
37
-
-
3943109563
-
Aleukemic congenital leukemia cutis
-
Torrelo A., Madero L., Mediero I.G., Baño A., and Zambrano A. Aleukemic congenital leukemia cutis. Pediatr Dermatol 21 (2004) 458-461
-
(2004)
Pediatr Dermatol
, vol.21
, pp. 458-461
-
-
Torrelo, A.1
Madero, L.2
Mediero, I.G.3
Baño, A.4
Zambrano, A.5
|