-
1
-
-
0023881835
-
Clinical features and current management of chronic granulomatous disease
-
Forrest CB, Forehand JR, Axtell RA, Roberts RL, Johnston RB: Clinical features and current management of chronic granulomatous disease. Hematol Oncol Clin North Am 2:253, 1988
-
(1988)
Hematol Oncol Clin North Am
, vol.2
, pp. 253
-
-
Forrest, C.B.1
Forehand, J.R.2
Axtell, R.A.3
Roberts, R.L.4
Johnston, R.B.5
-
2
-
-
0016391727
-
Defective superoxide production by granulocytes from patients with chronic granulomatous disease
-
Curnutte JT, Whitten DM, Babior BM: Defective superoxide production by granulocytes from patients with chronic granulomatous disease. N Engl J Med 290:593, 1974
-
(1974)
N Engl J Med
, vol.290
, pp. 593
-
-
Curnutte, J.T.1
Whitten, D.M.2
Babior, B.M.3
-
3
-
-
0023175462
-
-245 subunits from neutrophils in X-linked chronic granulomatous disease
-
-245 subunits from neutrophils in X-linked chronic granulomatous disease. Nature 326:88, 1987
-
(1987)
Nature
, vol.326
, pp. 88
-
-
Segal, A.W.1
-
4
-
-
0023483148
-
Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000
-
Parkos CA, Allen RA, Cochrane CG, Jesaitis AJ: Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest 80:732, 1987
-
(1987)
J Clin Invest
, vol.80
, pp. 732
-
-
Parkos, C.A.1
Allen, R.A.2
Cochrane, C.G.3
Jesaitis, A.J.4
-
5
-
-
0026642394
-
-245 is a flavocytochrome containing FAD and the NADPH binding site of the microbicidal oxidase of phagocytes
-
-245 is a flavocytochrome containing FAD and the NADPH binding site of the microbicidal oxidase of phagocytes. Biochem J 284:781, 1992
-
(1992)
Biochem J
, vol.284
, pp. 781
-
-
Segal, A.W.1
West, I.2
Wientjes, F.3
Nugent, J.H.A.4
Chavan, A.J.5
Haley, B.6
Garcia, R.C.7
Rosen, H.8
Scrace, G.9
-
7
-
-
0027787417
-
P40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains
-
Wientjes FB, Hsuan JJ, Totty NF, Segal AW: P40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. Biochem J 296:557, 1993
-
(1993)
Biochem J
, vol.296
, pp. 557
-
-
Wientjes, F.B.1
Hsuan, J.J.2
Totty, N.F.3
Segal, A.W.4
-
8
-
-
0025944684
-
Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1
-
Abo A, Pick E, Hall A, Totty N, Teahan CG, Segal AW: Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature 353:668, 1991
-
(1991)
Nature
, vol.353
, pp. 668
-
-
Abo, A.1
Pick, E.2
Hall, A.3
Totty, N.4
Teahan, C.G.5
Segal, A.W.6
-
9
-
-
0026335622
-
Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2
-
Knaus UG, Heyworth PG, Evans T, Curnutte JT, Bokoch GM: Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254:1512, 1991
-
(1991)
Science
, vol.254
, pp. 1512
-
-
Knaus, U.G.1
Heyworth, P.G.2
Evans, T.3
Curnutte, J.T.4
Bokoch, G.M.5
-
10
-
-
0028175879
-
Activated or dominant inhibitory mutants of Rap1A decrease the oxidative burst of Epstein-Barr virus-transformed human B lymphocytes
-
Maly F-E, Quilliam LA, Dorseuil O, Der CJ, Bokoch GM: Activated or dominant inhibitory mutants of Rap1A decrease the oxidative burst of Epstein-Barr virus-transformed human B lymphocytes. J Biol Chem 269:18743, 1994
-
(1994)
J Biol Chem
, vol.269
, pp. 18743
-
-
Maly, F.-E.1
Quilliam, L.A.2
Dorseuil, O.3
Der, C.J.4
Bokoch, G.M.5
-
11
-
-
13344293679
-
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
-
Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H: Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87:1663, 1996
-
(1996)
Blood
, vol.87
, pp. 1663
-
-
Roos, D.1
De Boer, M.2
Kuribayashi, F.3
Meischl, C.4
Weening, R.S.5
Segal, A.W.6
Ahlin, A.7
Nemet, K.8
Hossle, J.P.9
Bernatowska-Matuszkiewicz, E.10
Middleton-Price, H.11
-
12
-
-
0023251352
-
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex
-
Dinauer MC, Orkin SH, Brown R, Jesaitis AJ, Parkos CA: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 327:717, 1987
-
(1987)
Nature
, vol.327
, pp. 717
-
-
Dinauer, M.C.1
Orkin, S.H.2
Brown, R.3
Jesaitis, A.J.4
Parkos, C.A.5
-
13
-
-
0030296689
-
X-CGDbase: A database of X-CGD-causing mutations
-
Roos D, Curnutte JT, Hossle JP, Lau YL, Ariga T, Nunoi H, Dinauer MC, Gahr M, Segal AW, Newburger PE, Giacca M, Keep NH, van Zwieten R: X-CGDbase: A database of X-CGD-causing mutations. Immunol Today 17:517, 1996
-
(1996)
Immunol Today
, vol.17
, pp. 517
-
-
Roos, D.1
Curnutte, J.T.2
Hossle, J.P.3
Lau, Y.L.4
Ariga, T.5
Nunoi, H.6
Dinauer, M.C.7
Gahr, M.8
Segal, A.W.9
Newburger, P.E.10
Giacca, M.11
Keep, N.H.12
Van Zwieten, R.13
-
14
-
-
0021915409
-
Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: A third form of chronic granulomatous disease recognized by monocyte hybridization
-
Weening RS, Corbeel L, de Boer M, Lutter R, van Zwieten R, Hamers MN, Roos D: Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: A third form of chronic granulomatous disease recognized by monocyte hybridization. J Clin Invest 75:915, 1989
-
(1989)
J Clin Invest
, vol.75
, pp. 915
-
-
Weening, R.S.1
Corbeel, L.2
De Boer, M.3
Lutter, R.4
Van Zwieten, R.5
Hamers, M.N.6
Roos, D.7
-
15
-
-
0024563493
-
558 of human neutrophils
-
558 of human neutrophils. Blood 73:1686, 1989
-
(1989)
Blood
, vol.73
, pp. 1686
-
-
Verhoeven, A.J.1
Bolscher, B.G.J.M.2
Meerhof, L.J.3
Van Zwieten, R.4
Keijer, J.5
Weening, R.S.6
Roos, D.7
-
18
-
-
0004136246
-
-
Cold Spring Harbor, NY, Cold Spring Harbor Laboratory
-
Sambrook BL, Fritsch E, Maniatis T: Molecular Cloning: A Laboratory Manual (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
-
(1989)
Molecular Cloning: A Laboratory Manual (Ed 2)
-
-
Sambrook, B.L.1
Fritsch, E.2
Maniatis, T.3
-
19
-
-
0026726139
-
Splice site mutations are a common cause of X-linked chronic granulomatous disease
-
De Boer M, Bolscher BGJM, Dinauer MC, Orkin SH, Smith CIE, Ahlin A, Weening RS, Roos D: Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80:1553, 1992
-
(1992)
Blood
, vol.80
, pp. 1553
-
-
De Boer, M.1
Bolscher, B.G.J.M.2
Dinauer, M.C.3
Orkin, S.H.4
Smith, C.I.E.5
Ahlin, A.6
Weening, R.S.7
Roos, D.8
-
20
-
-
0024409366
-
Prenatal diagnosis of Duchenne Muscular Dystrophy: A three-year experience in a rapidly evolving field
-
Bakker E, Bonten EJ, Veenema H, den Dunnen JT, Grootscholten PM, van Ommen GJB, Pearson PL: Prenatal diagnosis of Duchenne Muscular Dystrophy: A three-year experience in a rapidly evolving field. J Inher Metab Dis 12:174, 1989 (suppl 1)
-
(1989)
J Inher Metab Dis
, vol.12
, Issue.1 SUPPL.
, pp. 174
-
-
Bakker, E.1
Bonten, E.J.2
Veenema, H.3
Den Dunnen, J.T.4
Grootscholten, P.M.5
Van Ommen, G.J.B.6
Pearson, P.L.7
-
21
-
-
0028276185
-
DNA analysis of Brazilian Duchenne Muscular Dystrophy families using (CA)n microsatellite markers
-
Neves Falcao-Conceiçao D, Kneppers ALJ, Bakker E: DNA analysis of Brazilian Duchenne Muscular Dystrophy families using (CA)n microsatellite markers. Brazil J Genet 17:113, 1994
-
(1994)
Brazil J Genet
, vol.17
, pp. 113
-
-
Neves Falcao-Conceiçao, D.1
Kneppers, A.L.J.2
Bakker, E.3
-
22
-
-
0023257860
-
Germline mosaicism and Duchenne muscular dystrophy mutations
-
Bakker E, van Broeckhoven Ch, Bonten EJ, van de Vooren MJ, Veenema H, van Hul W, van Ommen GJB, Vandenberghe A, Pearson PL: Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329:554, 1987
-
(1987)
Nature
, vol.329
, pp. 554
-
-
Bakker, E.1
Van Broeckhoven, Ch.2
Bonten, E.J.3
Van De Vooren, M.J.4
Veenema, H.5
Van Hul, W.6
Van Ommen, G.J.B.7
Vandenberghe, A.8
Pearson, P.L.9
-
23
-
-
0023810785
-
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency
-
Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL: Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med 319:999, 1988
-
(1988)
N Engl J Med
, vol.319
, pp. 999
-
-
Maddalena, A.1
Sosnoski, D.M.2
Berry, G.T.3
Nussbaum, R.L.4
-
24
-
-
0024991759
-
Somatic origin of inherited haemophilia A
-
Brocker-Vriends AHJT, Briët E, Dreesen JCFM, Bakker E, Reitsma P, Pannekoek H, van de Kamp JJP, Pearson PL: Somatic origin of inherited haemophilia A. Hum Genet 85:288, 1990
-
(1990)
Hum Genet
, vol.85
, pp. 288
-
-
Brocker-Vriends, A.H.J.T.1
Briët, E.2
Dreesen, J.C.F.M.3
Bakker, E.4
Reitsma, P.5
Pannekoek, H.6
Van De Kamp, J.J.P.7
Pearson, P.L.8
-
25
-
-
0023730947
-
Maternal duplication associated with gene deletion in sporadic hemophilia
-
25: Gitschier J: Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet 43:274, 1988
-
(1988)
Am J Hum Genet
, vol.43
, pp. 274
-
-
Gitschier, J.1
-
26
-
-
3142544243
-
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome
-
Langlois RG, Bigbee WL, Jensen RH, German J: Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci USA 86:670, 1989
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 670
-
-
Langlois, R.G.1
Bigbee, W.L.2
Jensen, R.H.3
German, J.4
|