-
1
-
-
0023230159
-
Syndrome of periodic fever, pharyngitis, and aphthous stomatitis
-
Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987; 110: 43-46.
-
(1987)
J Pediatr
, vol.110
, pp. 43-46
-
-
Marshall, G.S.1
Edwards, K.M.2
Butler, J.3
Lawton, A.R.4
-
2
-
-
0033504364
-
Periodic fever, aphtous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome
-
Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P et al. Periodic fever, aphtous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 1999; 135: 98-101.
-
(1999)
J Pediatr
, vol.135
, pp. 98-101
-
-
Padeh, S.1
Brezniak, N.2
Zemer, D.3
Pras, E.4
Livneh, A.5
Langevitz, P.6
-
3
-
-
33749564027
-
PFAPA syndrome: New clinical aspects disclosed
-
Tasher D, Somekh E, Dalal I. PFAPA syndrome: new clinical aspects disclosed. Arch Dis Child 2006; 91: 981-984.
-
(2006)
Arch Dis Child
, vol.91
, pp. 981-984
-
-
Tasher, D.1
Somekh, E.2
Dalal, I.3
-
4
-
-
84866847895
-
Periodic fevers with aphthous stomatitis, and adenitis (PFAPA)
-
Vigo G, Zulian F. Periodic fevers with aphthous stomatitis, and adenitis (PFAPA). Autoimmun Rev 2012; 12: 52-55.
-
(2012)
Autoimmun Rev
, vol.12
, pp. 52-55
-
-
Vigo, G.1
Zulian, F.2
-
5
-
-
74349095088
-
A clinical review of 105 patients with PFAPA (a periodic fever syndrome)
-
Feder HM, Salazar JC. A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr 2010; 99: 178-184.
-
(2010)
Acta Paediatr
, vol.99
, pp. 178-184
-
-
Feder, H.M.1
Salazar, J.C.2
-
6
-
-
84899586148
-
Clinical genetic testing of periodic fever syndromes
-
Marcuzzi A, Piscianz E, Kleiner G, Tommasini A, Severini GM, Monasta L et al. Clinical genetic testing of periodic fever syndromes. Biomed Res Int 2013; 147: 155-174.
-
(2013)
Biomed Res Int
, vol.147
, pp. 155-174
-
-
Marcuzzi, A.1
Piscianz, E.2
Kleiner, G.3
Tommasini, A.4
Severini, G.M.5
Monasta, L.6
-
7
-
-
82955233705
-
Familial mediterranean fever and related periodic fever syndromes/autoinflammatory diseases
-
Savic S, Dickie LJ, Battelino M, McDermott MF. Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases. Curr Opin Rheumatol 2012; 24: 103-112.
-
(2012)
Curr Opin Rheumatol
, vol.24
, pp. 103-112
-
-
Savic, S.1
Dickie, L.J.2
Battelino, M.3
McDermott, M.F.4
-
8
-
-
84880042745
-
Is PFAPA syndrome really a sporadic disorder or is it genetic?
-
Akelma AZ, Cizmeci MN, Kanburoglu MK, Mete E, Bozkaya D, Tufan N et al. Is PFAPA syndrome really a sporadic disorder or is it genetic? Med Hypotheses 2013; 81: 279-281.
-
(2013)
Med Hypotheses
, vol.81
, pp. 279-281
-
-
Akelma, A.Z.1
Cizmeci, M.N.2
Kanburoglu, M.K.3
Mete, E.4
Bozkaya, D.5
Tufan, N.6
-
9
-
-
77956835665
-
PFAPA syndrome is not a sporadic disease
-
Cochard M, Clet J, Le L, Pillet P, Onrubia X, Guéron T et al. PFAPA syndrome is not a sporadic disease. Rheumatology (Oxford) 2010; 49: 1984-1987.
-
(2010)
Rheumatology (Oxford)
, vol.49
, pp. 1984-1987
-
-
Cochard, M.1
Clet, J.2
Le, L.3
Pillet, P.4
Onrubia, X.5
Guéron, T.6
-
10
-
-
84878562491
-
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production
-
Kolly L, Busso N, von Scheven-Gete A, Bagnoud N, Moix I, Holzinger D et al. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production. J Allergy Clin Immunol 2013; 131: 1635-1643.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 1635-1643
-
-
Kolly, L.1
Busso, N.2
Von Scheven-Gete, A.3
Bagnoud, N.4
Moix, I.5
Holzinger, D.6
-
11
-
-
79953038580
-
The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome
-
Berkun Y, Levy R, Hurwitz A, Meir-Harel M, Lidar M, Livneh A et al. The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome. Semin Arthritis Rheum 2011; 40: 467-472.
-
(2011)
Semin Arthritis Rheum
, vol.40
, pp. 467-472
-
-
Berkun, Y.1
Levy, R.2
Hurwitz, A.3
Meir-Harel, M.4
Lidar, M.5
Livneh, A.6
-
12
-
-
79955147587
-
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade
-
Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci USA 2011; 108: 7148-7153.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 7148-7153
-
-
Stojanov, S.1
Lapidus, S.2
Chitkara, P.3
Feder, H.4
Salazar, J.C.5
Fleisher, T.A.6
-
13
-
-
77955171610
-
Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome
-
Caorsi R, Pelagatti MA, Federici S, Finetti M, Martini A, Gattorno M. Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. Curr Opin Rheumatol 2010; 22: 579-584.
-
(2010)
Curr Opin Rheumatol
, vol.22
, pp. 579-584
-
-
Caorsi, R.1
Pelagatti, M.A.2
Federici, S.3
Finetti, M.4
Martini, A.5
Gattorno, M.6
-
14
-
-
77957755043
-
PFAPA syndrome in children: A meta-analysis on surgical versus medical treatment
-
Peridis S, Pilgrim G, Koudoumnakis E, Athanasopoulos I, Houlakis M, Parpounas K. PFAPA syndrome in children: a meta-analysis on surgical versus medical treatment. Int J Pediatr Otorhinolaryngol 2010; 74: 1203-1208.
-
(2010)
Int J Pediatr Otorhinolaryngol
, vol.74
, pp. 1203-1208
-
-
Peridis, S.1
Pilgrim, G.2
Koudoumnakis, E.3
Athanasopoulos, I.4
Houlakis, M.5
Parpounas, K.6
-
15
-
-
41149106868
-
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
-
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008; 82: 712-722.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 712-722
-
-
Higgins, A.W.1
Alkuraya, F.S.2
Bosco, A.F.3
Brown, K.K.4
Bruns, G.A.5
Donovan, D.J.6
-
16
-
-
78549241926
-
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
-
Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C et al. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet 2010; 18: 1360-1363.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1360-1363
-
-
Cacciagli, P.1
Haddad, M.R.2
Mignon-Ravix, C.3
El-Waly, B.4
Moncla, A.5
Missirian, C.6
-
17
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49: 995-1013.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 995-1013
-
-
Warburton, D.1
-
18
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 2007; 318: 420-426.
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
-
19
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
Depristo, M.A.4
Durbin, R.M.5
-
20
-
-
84864419974
-
Dissecting the genomic complexity underlying medulloblastoma
-
Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M et al. Dissecting the genomic complexity underlying medulloblastoma. Nature 2012; 488: 100-105.
-
(2012)
Nature
, vol.488
, pp. 100-105
-
-
Jones, D.T.1
Jäger, N.2
Kool, M.3
Zichner, T.4
Hutter, B.5
Sultan, M.6
-
21
-
-
13144302844
-
Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning
-
Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX et al. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Proc Natl Acad Sci USA 1998; 95: 8175-8180.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 8175-8180
-
-
Mao, M.1
Fu, G.2
Wu, J.S.3
Zhang, Q.H.4
Zhou, J.5
Kan, L.X.6
-
23
-
-
0032167733
-
The R3H motif: A domain that binds single-stranded nucleic acids
-
Grishin NV. The R3H motif: a domain that binds single-stranded nucleic acids. Trends Biochem Sci 1998; 23: 329-330.
-
(1998)
Trends Biochem Sci
, vol.23
, pp. 329-330
-
-
Grishin, N.V.1
-
24
-
-
33644687167
-
Pathogenesis of parvovirus B19 infection: Host gene variability, and possible means and effects of virus persistence
-
Kerr JR. Pathogenesis of parvovirus B19 infection: host gene variability, and possible means and effects of virus persistence. J Vet Med B Infect Dis Vet Public Health 2005; 52: 335-339.
-
(2005)
J Vet Med B Infect Dis Vet Public Health
, vol.52
, pp. 335-339
-
-
Kerr, J.R.1
-
25
-
-
0344688165
-
Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region
-
Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Genomics 2004; 83: 153-167.
-
(2004)
Genomics
, vol.83
, pp. 153-167
-
-
Lehner, B.1
Semple, J.I.2
Brown, S.E.3
Counsell, D.4
Campbell, R.D.5
Sanderson, C.M.6
-
26
-
-
77955639059
-
Human lymphocyte antigen B-associated transcript 2,3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm
-
Hsieh YY, Lin YJ, Chang CC, Chen CY, Hsu CM, Wang YK et al. Human lymphocyte antigen B-associated transcript 2,3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm. J Clin Lab Anal 2010; 24: 262-268.
-
(2010)
J Clin Lab Anal
, vol.24
, pp. 262-268
-
-
Hsieh, Y.Y.1
Lin, Y.J.2
Chang, C.C.3
Chen, C.Y.4
Hsu, C.M.5
Wang, Y.K.6
-
28
-
-
84866440781
-
DELLY: Structural variant discovery by integrated paired-end and split-read analysis
-
Rausch T, Zichner T, Schlattl A, Stütz AM, Benes V, Korbel JO. DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics 2012; 28: i333-i339.
-
(2012)
Bioinformatics
, vol.28
-
-
Rausch, T.1
Zichner, T.2
Schlattl, A.3
Stütz, A.M.4
Benes, V.5
Korbel, J.O.6
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