-
1
-
-
84891754308
-
Clinical features of candidiasis in patients with inherited interleukin 12 receptor beta1 deficiency
-
COI: 1:CAS:528:DC%2BC2cXhvVansA%3D%3D, PID: 24186907
-
Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sanchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodriguez-Gallego C (2014) Clinical features of candidiasis in patients with inherited interleukin 12 receptor beta1 deficiency. Clin Infect Dis 58(2):204–213. doi:10.1093/cid/cit722
-
(2014)
Clin Infect Dis
, vol.58
, Issue.2
, pp. 204-213
-
-
Ouederni, M.1
Sanal, O.2
Ikinciogullari, A.3
Tezcan, I.4
Dogu, F.5
Sologuren, I.6
Pedraza-Sanchez, S.7
Keser, M.8
Tanir, G.9
Nieuwhof, C.10
Colino, E.11
Kumararatne, D.12
Levy, J.13
Kutukculer, N.14
Aytekin, C.15
Herrera-Ramos, E.16
Bhatti, M.17
Karaca, N.18
Barbouche, R.19
Broides, A.20
Goudouris, E.21
Franco, J.L.22
Parvaneh, N.23
Reisli, I.24
Strickler, A.25
Shcherbina, A.26
Somer, A.27
Segal, A.28
Angel-Moreno, A.29
Lezana-Fernandez, J.L.30
Bejaoui, M.31
Bobadilla-Del Valle, M.32
Kachboura, S.33
Sentongo, T.34
Ben-Mustapha, I.35
Bustamante, J.36
Picard, C.37
Puel, A.38
Boisson-Dupuis, S.39
Abel, L.40
Casanova, J.L.41
Rodriguez-Gallego, C.42
more..
-
2
-
-
78649351360
-
Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries
-
PID: 21057261
-
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Janniere L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandene L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Bluetters-Sawatzki R, Bernhoft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Muller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gulle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL (2010) Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine 89(6):381–402. doi:10.1097/MD.0b013e3181fdd832
-
(2010)
Medicine
, vol.89
, Issue.6
, pp. 381-402
-
-
de Beaucoudrey, L.1
Samarina, A.2
Bustamante, J.3
Cobat, A.4
Boisson-Dupuis, S.5
Feinberg, J.6
Al-Muhsen, S.7
Janniere, L.8
Rose, Y.9
de Suremain, M.10
Kong, X.F.11
Filipe-Santos, O.12
Chapgier, A.13
Picard, C.14
Fischer, A.15
Dogu, F.16
Ikinciogullari, A.17
Tanir, G.18
Al-Hajjar, S.19
Al-Jumaah, S.20
Frayha, H.H.21
AlSum, Z.22
Al-Ajaji, S.23
Alangari, A.24
Al-Ghonaium, A.25
Adimi, P.26
Mansouri, D.27
Ben-Mustapha, I.28
Yancoski, J.29
Garty, B.Z.30
Rodriguez-Gallego, C.31
Caragol, I.32
Kutukculer, N.33
Kumararatne, D.S.34
Patel, S.35
Doffinger, R.36
Exley, A.37
Jeppsson, O.38
Reichenbach, J.39
Nadal, D.40
Boyko, Y.41
Pietrucha, B.42
Anderson, S.43
Levin, M.44
Schandene, L.45
Schepers, K.46
Efira, A.47
Mascart, F.48
Matsuoka, M.49
Sakai, T.50
Siegrist, C.A.51
Frecerova, K.52
Bluetters-Sawatzki, R.53
Bernhoft, J.54
Freihorst, J.55
Baumann, U.56
Richter, D.57
Haerynck, F.58
De Baets, F.59
Novelli, V.60
Lammas, D.61
Vermylen, C.62
Tuerlinckx, D.63
Nieuwhof, C.64
Pac, M.65
Haas, W.H.66
Muller-Fleckenstein, I.67
Fleckenstein, B.68
Levy, J.69
Raj, R.70
Cohen, A.C.71
Lewis, D.B.72
Holland, S.M.73
Yang, K.D.74
Wang, X.75
Wang, X.76
Jiang, L.77
Yang, X.78
Zhu, C.79
Xie, Y.80
Lee, P.P.81
Chan, K.W.82
Chen, T.X.83
Castro, G.84
Natera, I.85
Codoceo, A.86
King, A.87
Bezrodnik, L.88
Di Giovani, D.89
Gaillard, M.I.90
de Moraes-Vasconcelos, D.91
Grumach, A.S.92
da Silva Duarte, A.J.93
Aldana, R.94
Espinosa-Rosales, F.J.95
Bejaoui, M.96
Bousfiha, A.A.97
Baghdadi, J.E.98
Ozbek, N.99
Aksu, G.100
Keser, M.101
Somer, A.102
Hatipoglu, N.103
Aydogmus, C.104
Asilsoy, S.105
Camcioglu, Y.106
Gulle, S.107
Ozgur, T.T.108
Ozen, M.109
Oleastro, M.110
Bernasconi, A.111
Mamishi, S.112
Parvaneh, N.113
Rosenzweig, S.114
Barbouche, R.115
Pedraza, S.116
Lau, Y.L.117
Ehlayel, M.S.118
Fieschi, C.119
Abel, L.120
Sanal, O.121
Casanova, J.L.122
more..
-
3
-
-
0036005890
-
Interleukin-12 in anti-tumor immunity and immunotherapy
-
COI: 1:CAS:528:DC%2BD38XitFWhs74%3D, PID: 11900991
-
Colombo MP, Trinchieri G (2002) Interleukin-12 in anti-tumor immunity and immunotherapy. Cytokine Growth Factor Rev 13(2):155–168
-
(2002)
Cytokine Growth Factor Rev
, vol.13
, Issue.2
, pp. 155-168
-
-
Colombo, M.P.1
Trinchieri, G.2
-
4
-
-
0028970060
-
Interleukin-12: a proinflammatory cytokine with immunoregulatory functions that bridge innate resistance and antigen-specific adaptive immunity
-
COI: 1:CAS:528:DyaK2MXltFamtbg%3D, PID: 7612223
-
Trinchieri G (1995) Interleukin-12: a proinflammatory cytokine with immunoregulatory functions that bridge innate resistance and antigen-specific adaptive immunity. Annu Rev Immunol 13:251–276. doi:10.1146/annurev.iy.13.040195.001343
-
(1995)
Annu Rev Immunol
, vol.13
, pp. 251-276
-
-
Trinchieri, G.1
-
5
-
-
0030445948
-
A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits
-
COI: 1:CAS:528:DyaK28Xnt1Gksr8%3D, PID: 8943050
-
Presky DH, Yang H, Minetti LJ, Chua AO, Nabavi N, Wu CY, Gately MK, Gubler U (1996) A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits. Proc Natl Acad Sci USA 93(24):14002–14007
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, Issue.24
, pp. 14002-14007
-
-
Presky, D.H.1
Yang, H.2
Minetti, L.J.3
Chua, A.O.4
Nabavi, N.5
Wu, C.Y.6
Gately, M.K.7
Gubler, U.8
-
6
-
-
0037313578
-
Interleukin-12 and the regulation of innate resistance and adaptive immunity
-
COI: 1:CAS:528:DC%2BD3sXot12gug%3D%3D, PID: 12563297
-
Trinchieri G (2003) Interleukin-12 and the regulation of innate resistance and adaptive immunity. Nat Rev Immunol 3(2):133–146. doi:10.1038/nri1001
-
(2003)
Nat Rev Immunol
, vol.3
, Issue.2
, pp. 133-146
-
-
Trinchieri, G.1
-
7
-
-
18244428735
-
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
-
COI: 1:CAS:528:DyaK1cXjtlaktLg%3D, PID: 9603732
-
Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL (1998) Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280(5368):1432–1435
-
(1998)
Science
, vol.280
, Issue.5368
, pp. 1432-1435
-
-
Altare, F.1
Durandy, A.2
Lammas, D.3
Emile, J.F.4
Lamhamedi, S.5
Le Deist, F.6
Drysdale, P.7
Jouanguy, E.8
Doffinger, R.9
Bernaudin, F.10
Jeppsson, O.11
Gollob, J.A.12
Meinl, E.13
Segal, A.W.14
Fischer, A.15
Kumararatne, D.16
Casanova, J.L.17
-
8
-
-
0032577295
-
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients
-
PID: 9603733
-
de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ, Kabel PJ, Draaisma JM, van Dissel JT, Kroon FP, Casanova JL, Ottenhoff TH (1998) Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280(5368):1435–1438
-
(1998)
Science
, vol.280
, Issue.5368
, pp. 1435-1438
-
-
de Jong, R.1
Altare, F.2
Haagen, I.A.3
Elferink, D.G.4
Boer, T.5
van Breda Vriesman, P.J.6
Kabel, P.J.7
Draaisma, J.M.8
van Dissel, J.T.9
Kroon, F.P.10
Casanova, J.L.11
Ottenhoff, T.H.12
-
9
-
-
84890919776
-
Gastric cancer: decreasing incidence but stable survival in the Netherlands
-
PID: 23829603
-
Dassen AE, Dikken JL, Bosscha K, Wouters MW, Cats A, van de Velde CJ, Coebergh JW, Lemmens VE (2014) Gastric cancer: decreasing incidence but stable survival in the Netherlands. Acta Oncol 53(1):138–142. doi:10.3109/0284186X.2013.789139
-
(2014)
Acta Oncol
, vol.53
, Issue.1
, pp. 138-142
-
-
Dassen, A.E.1
Dikken, J.L.2
Bosscha, K.3
Wouters, M.W.4
Cats, A.5
van de Velde, C.J.6
Coebergh, J.W.7
Lemmens, V.E.8
-
10
-
-
12644292106
-
The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification
-
COI: 1:STN:280:DyaF2M7isFenug%3D%3D, PID: 14320675
-
Lauren P (1965) The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 64:31–49
-
(1965)
Acta Pathol Microbiol Scand
, vol.64
, pp. 31-49
-
-
Lauren, P.1
-
11
-
-
77955179596
-
-
IARC, Lyon, France
-
Bosman FT, Carneiro F, Hruban RH, Theise ND (2010) WHO classification of tumours of the digestive system, 4th edn. IARC, Lyon, France
-
(2010)
WHO classification of tumours of the digestive system
-
-
Bosman, F.T.1
Carneiro, F.2
Hruban, R.H.3
Theise, N.D.4
-
13
-
-
0037057683
-
Helicobacter pylori infection
-
COI: 1:CAS:528:DC%2BD38XnslShsbo%3D, PID: 12374879
-
Suerbaum S, Michetti P (2002) Helicobacter pylori infection. N Engl J Med 347(15):1175–1186. doi:10.1056/NEJMra020542
-
(2002)
N Engl J Med
, vol.347
, Issue.15
, pp. 1175-1186
-
-
Suerbaum, S.1
Michetti, P.2
-
14
-
-
33645243958
-
Family history of gastric cancer: a correlation between epidemiologic findings and clinical data
-
PID: 16557430
-
Bernini M, Barbi S, Roviello F, Scarpa A, Moore P, Pedrazzani C, Beghelli S, Marrelli D, de Manzoni G (2006) Family history of gastric cancer: a correlation between epidemiologic findings and clinical data. Gastric Cancer 9(1):9–13. doi:10.1007/s10120-005-0350-7
-
(2006)
Gastric Cancer
, vol.9
, Issue.1
, pp. 9-13
-
-
Bernini, M.1
Barbi, S.2
Roviello, F.3
Scarpa, A.4
Moore, P.5
Pedrazzani, C.6
Beghelli, S.7
Marrelli, D.8
de Manzoni, G.9
-
15
-
-
0026703726
-
Family history and the risk of stomach and colorectal cancer
-
PID: 1606546
-
La Vecchia C, Negri E, Franceschi S, Gentile A (1992) Family history and the risk of stomach and colorectal cancer. Cancer 70(1):50–55
-
(1992)
Cancer
, vol.70
, Issue.1
, pp. 50-55
-
-
La Vecchia, C.1
Negri, E.2
Franceschi, S.3
Gentile, A.4
-
16
-
-
38549090648
-
High incidence of familial gastric cancer in Tuscany, a region in Italy
-
PID: 18185018
-
Roviello F, Corso G, Pedrazzani C, Marrelli D, De Falco G, Suriano G, Vindigni C, Berardi A, Garosi L, De Stefano A, Leoncini L, Seruca R, Pinto E (2007) High incidence of familial gastric cancer in Tuscany, a region in Italy. Oncology 72(3–4):243–247. doi:10.1159/000113015
-
(2007)
Oncology
, vol.72
, Issue.3-4
, pp. 243-247
-
-
Roviello, F.1
Corso, G.2
Pedrazzani, C.3
Marrelli, D.4
De Falco, G.5
Suriano, G.6
Vindigni, C.7
Berardi, A.8
Garosi, L.9
De Stefano, A.10
Leoncini, L.11
Seruca, R.12
Pinto, E.13
-
17
-
-
0033038712
-
Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer
-
COI: 1:STN:280:DyaK1M3itFWmug%3D%3D, PID: 10206317
-
Stone J, Bevan S, Cunningham D, Hill A, Rahman N, Peto J, Marossy A, Houlston RS (1999) Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer. Br J Cancer 79(11–12):1935–1937. doi:10.1038/sj.bjc.6690308
-
(1999)
Br J Cancer
, vol.79
, Issue.11-12
, pp. 1935-1937
-
-
Stone, J.1
Bevan, S.2
Cunningham, D.3
Hill, A.4
Rahman, N.5
Peto, J.6
Marossy, A.7
Houlston, R.S.8
-
18
-
-
77956110372
-
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
-
COI: 1:CAS:528:DC%2BC3cXhtVOmur7P, PID: 20591882
-
Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, van Krieken JH, Dwerryhouse S, Caldas C (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47(7):436–444
-
(2010)
J Med Genet
, vol.47
, Issue.7
, pp. 436-444
-
-
Fitzgerald, R.C.1
Hardwick, R.2
Huntsman, D.3
Carneiro, F.4
Guilford, P.5
Blair, V.6
Chung, D.C.7
Norton, J.8
Ragunath, K.9
van Krieken, J.H.10
Dwerryhouse, S.11
Caldas, C.12
-
19
-
-
32344433111
-
Genetics, pathology, and clinics of familial gastric cancer
-
COI: 1:CAS:528:DC%2BD28XhvFGgs70%3D, PID: 16501831
-
Oliveira C, Seruca R, Carneiro F (2006) Genetics, pathology, and clinics of familial gastric cancer. Int J Surg Pathol 14(1):21–33
-
(2006)
Int J Surg Pathol
, vol.14
, Issue.1
, pp. 21-33
-
-
Oliveira, C.1
Seruca, R.2
Carneiro, F.3
-
20
-
-
34249989159
-
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
-
COI: 1:CAS:528:DC%2BD2sXmt1Cgs7g%3D, PID: 17545690
-
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D (2007) Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 297(21):2360–2372. doi:10.1001/jama.297.21.2360
-
(2007)
JAMA
, vol.297
, Issue.21
, pp. 2360-2372
-
-
Kaurah, P.1
MacMillan, A.2
Boyd, N.3
Senz, J.4
De Luca, A.5
Chun, N.6
Suriano, G.7
Zaor, S.8
Van Manen, L.9
Gilpin, C.10
Nikkel, S.11
Connolly-Wilson, M.12
Weissman, S.13
Rubinstein, W.S.14
Sebold, C.15
Greenstein, R.16
Stroop, J.17
Yim, D.18
Panzini, B.19
McKinnon, W.20
Greenblatt, M.21
Wirtzfeld, D.22
Fontaine, D.23
Coit, D.24
Yoon, S.25
Chung, D.26
Lauwers, G.27
Pizzuti, A.28
Vaccaro, C.29
Redal, M.A.30
Oliveira, C.31
Tischkowitz, M.32
Olschwang, S.33
Gallinger, S.34
Lynch, H.35
Green, J.36
Ford, J.37
Pharoah, P.38
Fernandez, B.39
Huntsman, D.40
more..
-
21
-
-
64549109715
-
Germline CDH1 deletions in hereditary diffuse gastric cancer families
-
COI: 1:CAS:528:DC%2BD1MXksVeitLg%3D, PID: 19168852
-
Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, Corso G, Schouten J, Fitzgerald R, Vogelsang H, Keller G, Dwerryhouse S, Grimmer D, Chin SF, Yang HK, Jackson CE, Seruca R, Roviello F, Stupka E, Caldas C, Huntsman D (2009) Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 18(9):1545–1555. doi:10.1093/hmg/ddp046
-
(2009)
Hum Mol Genet
, vol.18
, Issue.9
, pp. 1545-1555
-
-
Oliveira, C.1
Senz, J.2
Kaurah, P.3
Pinheiro, H.4
Sanges, R.5
Haegert, A.6
Corso, G.7
Schouten, J.8
Fitzgerald, R.9
Vogelsang, H.10
Keller, G.11
Dwerryhouse, S.12
Grimmer, D.13
Chin, S.F.14
Yang, H.K.15
Jackson, C.E.16
Seruca, R.17
Roviello, F.18
Stupka, E.19
Caldas, C.20
Huntsman, D.21
more..
-
22
-
-
77956130043
-
Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency
-
COI: 1:CAS:528:DC%2BC3cXht1aru7fN, PID: 20798129
-
Cardenes M, Angel-Moreno A, Fieschi C, Sologuren I, Colino E, Molines A, Garcia-Laorden MI, Campos-Herrero MI, Andujar-Sanchez M, Casanova JL, Rodriguez-Gallego C (2010) Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency. J Med Genet 47(9):635–637. doi:10.1136/jmg.2009.071910
-
(2010)
J Med Genet
, vol.47
, Issue.9
, pp. 635-637
-
-
Cardenes, M.1
Angel-Moreno, A.2
Fieschi, C.3
Sologuren, I.4
Colino, E.5
Molines, A.6
Garcia-Laorden, M.I.7
Campos-Herrero, M.I.8
Andujar-Sanchez, M.9
Casanova, J.L.10
Rodriguez-Gallego, C.11
-
23
-
-
84870402902
-
Associations between polymorphisms in IL-12A, IL-12B, IL-12Rbeta1, IL-27 gene and serum levels of IL-12p40, IL-27p28 with esophageal cancer
-
COI: 1:CAS:528:DC%2BC38XhsF2jsbrM, PID: 22740240
-
Tao YP, Wang WL, Li SY, Zhang J, Shi QZ, Zhao F, Zhao BS (2012) Associations between polymorphisms in IL-12A, IL-12B, IL-12Rbeta1, IL-27 gene and serum levels of IL-12p40, IL-27p28 with esophageal cancer. J Cancer Res Clin Oncol 138(11):1891–1900. doi:10.1007/s00432-012-1269-0
-
(2012)
J Cancer Res Clin Oncol
, vol.138
, Issue.11
, pp. 1891-1900
-
-
Tao, Y.P.1
Wang, W.L.2
Li, S.Y.3
Zhang, J.4
Shi, Q.Z.5
Zhao, F.6
Zhao, B.S.7
-
24
-
-
28444443017
-
Lack of Il12rb2 signaling predisposes to spontaneous autoimmunity and malignancy
-
COI: 1:CAS:528:DC%2BD2MXht12ksbfF, PID: 16081683
-
Airoldi I, Di Carlo E, Cocco C, Sorrentino C, Fais F, Cilli M, D’Antuono T, Colombo MP, Pistoia V (2005) Lack of Il12rb2 signaling predisposes to spontaneous autoimmunity and malignancy. Blood 106(12):3846–3853. doi:10.1182/blood-2005-05-2034
-
(2005)
Blood
, vol.106
, Issue.12
, pp. 3846-3853
-
-
Airoldi, I.1
Di Carlo, E.2
Cocco, C.3
Sorrentino, C.4
Fais, F.5
Cilli, M.6
D’Antuono, T.7
Colombo, M.P.8
Pistoia, V.9
-
25
-
-
31944445006
-
Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction
-
COI: 1:CAS:528:DC%2BD28XhtlGms70%3D, PID: 16410008
-
Roos A, Dieltjes P, Vossen RH, Daha MR, de Knijff P (2006) Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction. J Immunol Methods 309(1–2):108–114. doi:10.1016/j.jim.2005.11.017
-
(2006)
J Immunol Methods
, vol.309
, Issue.1-2
, pp. 108-114
-
-
Roos, A.1
Dieltjes, P.2
Vossen, R.H.3
Daha, M.R.4
de Knijff, P.5
-
26
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
COI: 1:CAS:528:DC%2BD1MXovVyns78%3D, PID: 19561590
-
Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7):1073–1082. doi:10.1038/nprot.2009.86
-
(2009)
Nat Protoc
, vol.4
, Issue.7
, pp. 1073-1082
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
27
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
COI: 1:CAS:528:DC%2BC3cXjvFKqu78%3D, PID: 20354512
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. doi:10.1038/nmeth0410-248
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
28
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
COI: 1:CAS:528:DC%2BD28XktlymtL4%3D, PID: 16014699
-
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43(4):295–305. doi:10.1136/jmg.2005.033878
-
(2006)
J Med Genet
, vol.43
, Issue.4
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
Judkins, T.4
Scholl, T.5
Samollow, P.B.6
de Silva, D.7
Zharkikh, A.8
Thomas, A.9
-
29
-
-
84941744232
-
-
Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA
-
Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA. http://evs.gs.washington.edu/EVS/
-
-
-
-
30
-
-
84941731276
-
-
GoNL database
-
GoNL database. http://www.nlgenome.nl/search/
-
-
-
-
31
-
-
84884534194
-
IL-12Rbeta1 deficiency: mutation update and description of the IL12RB1 variation database
-
PID: 23864330
-
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan C, Broides A, de Paus RA, Keskin O, Cagdas D, Tezcan I, Lopez-Ruzafa E, Arostegui JI, Levy J, Espinosa-Rosales FJ, Sanal O, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J (2013) IL-12Rbeta1 deficiency: mutation update and description of the IL12RB1 variation database. Hum Mutat 34(10):1329–1339. doi:10.1002/humu.22380
-
(2013)
Hum Mutat
, vol.34
, Issue.10
, pp. 1329-1339
-
-
van de Vosse, E.1
Haverkamp, M.H.2
Ramirez-Alejo, N.3
Martinez-Gallo, M.4
Blancas-Galicia, L.5
Metin, A.6
Garty, B.Z.7
Sun-Tan, C.8
Broides, A.9
de Paus, R.A.10
Keskin, O.11
Cagdas, D.12
Tezcan, I.13
Lopez-Ruzafa, E.14
Arostegui, J.I.15
Levy, J.16
Espinosa-Rosales, F.J.17
Sanal, O.18
Santos-Argumedo, L.19
Casanova, J.L.20
Boisson-Dupuis, S.21
van Dissel, J.T.22
Bustamante, J.23
more..
-
32
-
-
29644445157
-
Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency
-
PID: 16293671
-
van de Vosse E, de Paus RA, van Dissel JT, Ottenhoff TH (2005) Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency. Hum Mol Genet 14(24):3847–3855. doi:10.1093/hmg/ddi409
-
(2005)
Hum Mol Genet
, vol.14
, Issue.24
, pp. 3847-3855
-
-
van de Vosse, E.1
de Paus, R.A.2
van Dissel, J.T.3
Ottenhoff, T.H.4
|