-
1
-
-
0001329194
-
Über akutes umschriebenes Hautödem
-
Quincke H. Über akutes umschriebenes Hautödem. Monatsh. Prakt. Dermatol. 1882, 1:129-131.
-
(1882)
Monatsh. Prakt. Dermatol.
, vol.1
, pp. 129-131
-
-
Quincke, H.1
-
2
-
-
0001024770
-
Hereditary angioneurotic edema
-
Osler W. Hereditary angioneurotic edema. Am. J. Med. Sci. 1888, 95:362-367.
-
(1888)
Am. J. Med. Sci.
, vol.95
, pp. 362-367
-
-
Osler, W.1
-
3
-
-
0023266262
-
Altered C1 inhibitor genes in type I hereditary angioedema
-
Stoppa-Lyonnet D., Tosi M., Laurent J., Sobel A., Lagrue G., Meo T. Altered C1 inhibitor genes in type I hereditary angioedema. N. Engl. J. Med. 1987, 317:1-6.
-
(1987)
N. Engl. J. Med.
, vol.317
, pp. 1-6
-
-
Stoppa-Lyonnet, D.1
Tosi, M.2
Laurent, J.3
Sobel, A.4
Lagrue, G.5
Meo, T.6
-
4
-
-
50549190821
-
A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C1-esterase
-
Donaldson V.H., Evans R.R. A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C1-esterase. Am. J. Med. 1963, 35:37-44.
-
(1963)
Am. J. Med.
, vol.35
, pp. 37-44
-
-
Donaldson, V.H.1
Evans, R.R.2
-
5
-
-
0030943147
-
Molecular defects in hereditary angioneurotic edema
-
Bissler J.J., Aulak K.S., Donaldson V.H., Rosen F.S., Cicardi M., Harrison R.A., Davis A.E. Molecular defects in hereditary angioneurotic edema. Proc. Assoc. Am. Physicians 1997, 109:164-173.
-
(1997)
Proc. Assoc. Am. Physicians
, vol.109
, pp. 164-173
-
-
Bissler, J.J.1
Aulak, K.S.2
Donaldson, V.H.3
Rosen, F.S.4
Cicardi, M.5
Harrison, R.A.6
Davis, A.E.7
-
6
-
-
0034122946
-
Detection of C1 inhibitor mutations in patients with hereditary angioedema
-
Zuraw B.L., Herschbach J. Detection of C1 inhibitor mutations in patients with hereditary angioedema. J. Allergy Clin. Immunol. 2000, 105:541-546.
-
(2000)
J. Allergy Clin. Immunol.
, vol.105
, pp. 541-546
-
-
Zuraw, B.L.1
Herschbach, J.2
-
7
-
-
0034661804
-
Hereditary angioedema with normal C1-inhibitor activity in women
-
Bork K., Barnstedt S.E., Koch P., Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000, 356:213-217.
-
(2000)
Lancet
, vol.356
, pp. 213-217
-
-
Bork, K.1
Barnstedt, S.E.2
Koch, P.3
Traupe, H.4
-
8
-
-
33646026697
-
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor
-
Dewald G., Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem. Biophys. Res. Commun. 2006, 343:1286-1289.
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.343
, pp. 1286-1289
-
-
Dewald, G.1
Bork, K.2
-
9
-
-
33845219794
-
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III
-
Cichon S., Martin L., Hennies H.C., Muller F., Van Driessche K., Karpushova A., Stevens W., Colombo R., Renne T., Drouet C., et al. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am. J. Hum. Genet. 2006, 79:1098-1104.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 1098-1104
-
-
Cichon, S.1
Martin, L.2
Hennies, H.C.3
Muller, F.4
Van Driessche, K.5
Karpushova, A.6
Stevens, W.7
Colombo, R.8
Renne, T.9
Drouet, C.10
-
10
-
-
34247326977
-
A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene
-
Bouillet L., Ponard D., Rousset H., Cichon S., Drouet C. A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene. Br. J. Dermatol. 2007, 156:1063-1065.
-
(2007)
Br. J. Dermatol.
, vol.156
, pp. 1063-1065
-
-
Bouillet, L.1
Ponard, D.2
Rousset, H.3
Cichon, S.4
Drouet, C.5
-
11
-
-
34547689812
-
Analgesia obstetrica en un caso de edema angioneurotico hereditario tipo III
-
Fiz Matias J., Ferrer Ceron S.M., Garcia Perez C., Marcos Vidal J.M. Analgesia obstetrica en un caso de edema angioneurotico hereditario tipo III. Rev. Esp. Anestesiol. Reanim. 2007, 54:253-254.
-
(2007)
Rev. Esp. Anestesiol. Reanim.
, vol.54
, pp. 253-254
-
-
Fiz Matias, J.1
Ferrer Ceron, S.M.2
Garcia Perez, C.3
Marcos Vidal, J.M.4
-
12
-
-
34948849184
-
Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene
-
Martin L., Raison-Peyron N., Nothen M.M., Cichon S., Drouet C. Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J. Allergy Clin. Immunol. 2007, 120:975-977.
-
(2007)
J. Allergy Clin. Immunol.
, vol.120
, pp. 975-977
-
-
Martin, L.1
Raison-Peyron, N.2
Nothen, M.M.3
Cichon, S.4
Drouet, C.5
-
13
-
-
58649103742
-
Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III
-
Prieto A., Tornero P., Rubio M., Fernandez-Cruz E., Rodriguez-Sainz C. Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. Allergy 2009, 64:284-286.
-
(2009)
Allergy
, vol.64
, pp. 284-286
-
-
Prieto, A.1
Tornero, P.2
Rubio, M.3
Fernandez-Cruz, E.4
Rodriguez-Sainz, C.5
-
14
-
-
63649128831
-
Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema
-
Duan Q.L., Binkley K., Rouleau G.A. Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. J. Allergy Clin. Immunol. 2009, 123:906-910.
-
(2009)
J. Allergy Clin. Immunol.
, vol.123
, pp. 906-910
-
-
Duan, Q.L.1
Binkley, K.2
Rouleau, G.A.3
-
15
-
-
69049111630
-
Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema
-
Nagy N., Greaves M.W., Tanaka A., McGrath J.A., Grattan C.E. Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema. J. Dermatol. Sci. 2009, 56:62-64.
-
(2009)
J. Dermatol. Sci.
, vol.56
, pp. 62-64
-
-
Nagy, N.1
Greaves, M.W.2
Tanaka, A.3
McGrath, J.A.4
Grattan, C.E.5
-
16
-
-
58149199899
-
Angioedema and estrogen-dependent angioedema with activation of the contact system
-
Hentges F., Hilger C., Kohnen M., Gilson G. Angioedema and estrogen-dependent angioedema with activation of the contact system. J. Allergy Clin. Immunol. 2009, 123:262-264.
-
(2009)
J. Allergy Clin. Immunol.
, vol.123
, pp. 262-264
-
-
Hentges, F.1
Hilger, C.2
Kohnen, M.3
Gilson, G.4
-
17
-
-
67649227073
-
Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy
-
Bork K., Wulff K., Hardt J., Witzke G., Staubach P. Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy. J. Allergy Clin. Immunol. 2009, 124:129-134.
-
(2009)
J. Allergy Clin. Immunol.
, vol.124
, pp. 129-134
-
-
Bork, K.1
Wulff, K.2
Hardt, J.3
Witzke, G.4
Staubach, P.5
-
18
-
-
80053133424
-
Obstetrical complications and outcome in two families with hereditary angioedema due to mutation in the F12 gene
-
(Article ID 957507)
-
Picone O., Donnadieu A.C., Brivet F.G., Boyer-Neumann C., Fremeaux-Bacchi V., Frydman R. Obstetrical complications and outcome in two families with hereditary angioedema due to mutation in the F12 gene. Obstet. Gynecol. Int. 2010, (Article ID 957507).
-
(2010)
Obstet. Gynecol. Int.
-
-
Picone, O.1
Donnadieu, A.C.2
Brivet, F.G.3
Boyer-Neumann, C.4
Fremeaux-Bacchi, V.5
Frydman, R.6
-
19
-
-
77956438524
-
Type III hereditary angio-oedema: clinical and biological features in a French cohort
-
Vitrat-Hincky V., Gompel A., Dumestre-Perard C., Boccon-Gibod I., Drouet C., Cesbron J.Y., Lunardi J., Massot C., Bouillet L. Type III hereditary angio-oedema: clinical and biological features in a French cohort. Allergy 2010, 65:1331-1336.
-
(2010)
Allergy
, vol.65
, pp. 1331-1336
-
-
Vitrat-Hincky, V.1
Gompel, A.2
Dumestre-Perard, C.3
Boccon-Gibod, I.4
Drouet, C.5
Cesbron, J.Y.6
Lunardi, J.7
Massot, C.8
Bouillet, L.9
-
20
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
21
-
-
50849141120
-
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema
-
Gösswein T., Kocot A., Emmert G., Kreuz W., Martinez-Saguer I., Aygoren-Pursun E., Rusicke E., Bork K., Oldenburg J., Muller C.R. Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Cytogenet. Genome Res. 2008, 121:181-188.
-
(2008)
Cytogenet. Genome Res.
, vol.121
, pp. 181-188
-
-
Gösswein, T.1
Kocot, A.2
Emmert, G.3
Kreuz, W.4
Martinez-Saguer, I.5
Aygoren-Pursun, E.6
Rusicke, E.7
Bork, K.8
Oldenburg, J.9
Muller, C.R.10
-
22
-
-
67649224409
-
Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys
-
Bork K., Kleist R., Hardt J., Witzke G. Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys. Blood Coagul. Fibrinolysis 2009, 20:325-332.
-
(2009)
Blood Coagul. Fibrinolysis
, vol.20
, pp. 325-332
-
-
Bork, K.1
Kleist, R.2
Hardt, J.3
Witzke, G.4
-
23
-
-
51349160073
-
Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation
-
Maas C., Govers-Riemslag J.W., Bouma B., Schiks B., Hazenberg B.P., Lokhorst H.M., Hammarstrom P., ten Cate H., de Groot P.G., Bouma B.N., et al. Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation. J. Clin. Invest. 2008, 118:3208-3218.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 3208-3218
-
-
Maas, C.1
Govers-Riemslag, J.W.2
Bouma, B.3
Schiks, B.4
Hazenberg, B.P.5
Lokhorst, H.M.6
Hammarstrom, P.7
ten Cate, H.8
de Groot, P.G.9
Bouma, B.N.10
|