-
1
-
-
35349019691
-
Clinical and molecular phenotype of Aicardi-Goutières syndrome
-
Rice G., Patrick T., Parmar R., Taylor C.F., Aeby A., Aicardi J., et al. Clinical and molecular phenotype of Aicardi-Goutières syndrome. Am J Hum Genet 2007, 81:713-725.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 713-725
-
-
Rice, G.1
Patrick, T.2
Parmar, R.3
Taylor, C.F.4
Aeby, A.5
Aicardi, J.6
-
2
-
-
77951737544
-
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
-
Ramantani G., Kohlhase J., Hertzberg C., Innes A.M., Engel K., Hunger S., et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010, 62:1469-1477.
-
(2010)
Arthritis Rheum
, vol.62
, pp. 1469-1477
-
-
Ramantani, G.1
Kohlhase, J.2
Hertzberg, C.3
Innes, A.M.4
Engel, K.5
Hunger, S.6
-
3
-
-
0031593632
-
Aicardi-Goutières syndrome: an update and results of interferon-α studies
-
Goutières F., Aicardi J., Barth P.G., Lebon P. Aicardi-Goutières syndrome: an update and results of interferon-α studies. Ann Neurol 1998, 44:900-907.
-
(1998)
Ann Neurol
, vol.44
, pp. 900-907
-
-
Goutières, F.1
Aicardi, J.2
Barth, P.G.3
Lebon, P.4
-
4
-
-
0031657413
-
Brainstem lesion in Aicardi-Goutières syndrome
-
Kato M., Ishii R., Honma A., Ikeda H., Hayasaka K. Brainstem lesion in Aicardi-Goutières syndrome. Pediatr Neurol 1998, 19:145-147.
-
(1998)
Pediatr Neurol
, vol.19
, pp. 145-147
-
-
Kato, M.1
Ishii, R.2
Honma, A.3
Ikeda, H.4
Hayasaka, K.5
-
5
-
-
31544481206
-
Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome
-
De Laet C., Goyens P., Christophe C., Ferster A., Mascart F., Dan B. Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome. Neuropediatrics 2005, 36:399-402.
-
(2005)
Neuropediatrics
, vol.36
, pp. 399-402
-
-
De Laet, C.1
Goyens, P.2
Christophe, C.3
Ferster, A.4
Mascart, F.5
Dan, B.6
-
6
-
-
0029947220
-
Brain calcification in patients with cerebral lupus
-
Raymond A.A., Zariah A.A., Samad S.A., Chin C.N., Kong N.C.T. Brain calcification in patients with cerebral lupus. Lupus 1996, 5:123-128.
-
(1996)
Lupus
, vol.5
, pp. 123-128
-
-
Raymond, A.A.1
Zariah, A.A.2
Samad, S.A.3
Chin, C.N.4
Kong, N.C.T.5
-
7
-
-
34548327158
-
Mutation in the gene encoding the 3'→5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus
-
Lee-Kirsch M.A., Gong M., Chowdhury D., Senenko L., Engel K., Lee Y.A., et al. Mutation in the gene encoding the 3'→5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007, 39:1065-1067.
-
(2007)
Nat Genet
, vol.39
, pp. 1065-1067
-
-
Lee-Kirsch, M.A.1
Gong, M.2
Chowdhury, D.3
Senenko, L.4
Engel, K.5
Lee, Y.A.6
-
8
-
-
67649861901
-
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
-
Rice G.I., Bond J., Asipu A., Brunette R.L., Manfield I.W., Carr I.M., et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009, 41:829-832.
-
(2009)
Nat Genet
, vol.41
, pp. 829-832
-
-
Rice, G.I.1
Bond, J.2
Asipu, A.3
Brunette, R.L.4
Manfield, I.W.5
Carr, I.M.6
-
9
-
-
33746522835
-
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
-
Crow Y.J., Leitch A., Hayward B.E., Garner A., Parmar R., Griffith E., et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet 2006, 38:910-916.
-
(2006)
Nat Genet
, vol.38
, pp. 910-916
-
-
Crow, Y.J.1
Leitch, A.2
Hayward, B.E.3
Garner, A.4
Parmar, R.5
Griffith, E.6
-
10
-
-
82555192885
-
-
Type I interferonopathies: a novel set of inborn errors of immunity. Ann N.Y. Acad Sci 2011;1238
-
Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N.Y. Acad Sci 2011;1238:91-98.
-
-
-
Crow, Y.J.1
|