-
2
-
-
0029095603
-
Factor VIII gene inversions in severe haemophilia A: Results of an international consortium study
-
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, et al. Factor VIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995;86:2206-12.
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, S.E.1
Rossiter, J.P.2
Young, M.3
Horst, J.4
De Moerloose, P.5
Sommer, S.S.6
-
3
-
-
0036096037
-
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A
-
Bagnall RD, Waseem N, Green PM, Gianelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002;99:168-74.
-
(2002)
Blood
, vol.99
, pp. 168-174
-
-
Bagnall, R.D.1
Waseem, N.2
Green, P.M.3
Gianelli, F.4
-
4
-
-
0034998368
-
A haemophilia A and B molecular genetic diagnostic program in Hungary: A highly informative and cost-effective strategy
-
Klein I, Andrikovics H, Bors A, Nemes L, Tordai A, Váradi A. A haemophilia A and B molecular genetic diagnostic program in Hungary: a highly informative and cost-effective strategy. Haemophilia 2001;7:306-12.
-
(2001)
Haemophilia
, vol.7
, pp. 306-312
-
-
Klein, I.1
Andrikovics, H.2
Bors, A.3
Nemes, L.4
Tordai, A.5
Váradi, A.6
-
5
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988;16:1215-8.
-
(1988)
Nucl Acid Res
, vol.16
, pp. 1215-1218
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
6
-
-
0032529667
-
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
-
Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998;92:1458-9.
-
(1998)
Blood
, vol.92
, pp. 1458-1459
-
-
Liu, Q.1
Nozari, G.2
Sommer, S.S.3
-
7
-
-
0028856585
-
Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients
-
Arruda VR, Pieneman WC, Reitsma PH, Deutz-Terlouw PP, Annichino-Bizacchi JM, Briet E, et al. Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients. Blood 1995;86:3015-20.
-
(1995)
Blood
, vol.86
, pp. 3015-3020
-
-
Arruda, V.R.1
Pieneman, W.C.2
Reitsma, P.H.3
Deutz-Terlouw, P.P.4
Annichino-Bizacchi, J.M.5
Briet, E.6
-
8
-
-
0027031720
-
Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe haemophilia A
-
Diamond C, Kogan S, Levinson B, Gitschier J. Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe haemophilia A. Hum Mutat 1992;1:248-57.
-
(1992)
Hum Mutat
, vol.1
, pp. 248-257
-
-
Diamond, C.1
Kogan, S.2
Levinson, B.3
Gitschier, J.4
-
9
-
-
0028122895
-
Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A
-
Windsor S, Taylor SAM, Lillicrap D. Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 1994;84:2202-5.
-
(1994)
Blood
, vol.84
, pp. 2202-2205
-
-
Windsor, S.1
Taylor, S.A.M.2
Lillicrap, D.3
-
10
-
-
0029990366
-
Intron 22 of factor VIII gene - A hot spot for structural aberrations causing severe hemophilia A
-
Schröder W, Wehnert M, Herrmann FH. Intron 22 of factor VIII gene - a hot spot for structural aberrations causing severe hemophilia A. Blood 1996;87:3067-8.
-
(1996)
Blood
, vol.87
, pp. 3067-3068
-
-
Schröder, W.1
Wehnert, M.2
Herrmann, F.H.3
-
11
-
-
0030860224
-
The factor VIII mutation database on the World Wide Web: The haemophilia A mutation, search, test and resource site - HAMSTers update (version 3.0)
-
Kernball Cook G, Tuddenham EGD. The factor VIII mutation database on the World Wide Web: the haemophilia A mutation, search, test and resource site - HAMSTers update (version 3.0). Nuc Acid Res 1997;25:128-32.
-
(1997)
Nuc Acid Res
, vol.25
, pp. 128-132
-
-
Kernball Cook, G.1
Tuddenham, E.G.D.2
-
12
-
-
0030008039
-
Possible misdiagnosis of factor VIII gene inversion in a case of severe hemophilia A
-
Benichou B, Herbert O, Huet S, Andre MT, Bezieau S, Le Roux MG, et al. Possible misdiagnosis of factor VIII gene inversion in a case of severe hemophilia A. Blood 1996;87:3525-6.
-
(1996)
Blood
, vol.87
, pp. 3525-3526
-
-
Benichou, B.1
Herbert, O.2
Huet, S.3
Andre, M.T.4
Bezieau, S.5
Le Roux, M.G.6
-
13
-
-
0026508201
-
A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases
-
Lavergne JM, Bahnak BR, Vidaud M, Laurian Y, Meyer D. A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases. Nou Rev Franc Hematol 1992;34:85-91.
-
(1992)
Nou Rev Franc Hematol
, vol.34
, pp. 85-91
-
-
Lavergne, J.M.1
Bahnak, B.R.2
Vidaud, M.3
Laurian, Y.4
Meyer, D.5
-
14
-
-
0029257362
-
Factor VIII gene rearrangement analysis and carrier determination in haemophilia A
-
Poon MC, Low S, Sinclair GD. Factor VIII gene rearrangement analysis and carrier determination in haemophilia A. J Lab Clin Med 1995;125:402-6.
-
(1995)
J Lab Clin Med
, vol.125
, pp. 402-406
-
-
Poon, M.C.1
Low, S.2
Sinclair, G.D.3
-
15
-
-
0029865231
-
A novel DNA inversion causing severe haemophilia A
-
Naylor JA, Nicholson P, Goodeve A, Hassock S, Peake I, Giannelli F. A novel DNA inversion causing severe haemophilia A. Blood 1996;87:3255-61.
-
(1996)
Blood
, vol.87
, pp. 3255-3261
-
-
Naylor, J.A.1
Nicholson, P.2
Goodeve, A.3
Hassock, S.4
Peake, I.5
Giannelli, F.6
-
16
-
-
0029960168
-
Clinical correlates among 49 families with haemophilia A and factor VIII gene inversions
-
Weinmann AF, Schoof JM, Thompson AR. Clinical correlates among 49 families with haemophilia A and factor VIII gene inversions. Am J Hematol 1996;51:192-9.
-
(1996)
Am J Hematol
, vol.51
, pp. 192-199
-
-
Weinmann, A.F.1
Schoof, J.M.2
Thompson, A.R.3
-
17
-
-
0028965732
-
Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a haemophilia A family
-
Enayat MS, Theophilus BDM, Williams MD, Hill FGH. Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a haemophilia A family. Blood 1995;85: 2639-41.
-
(1995)
Blood
, vol.85
, pp. 2639-2641
-
-
Enayat, M.S.1
Theophilus, B.D.M.2
Williams, M.D.3
Hill, F.G.H.4
-
18
-
-
0030666753
-
Variant of intron 22 inversions in the factor VIII gene in severe haemophilia A
-
Yamazaki E, Mohri H, Inaba H, Harono H, Kanamori H, Okubo, T. Variant of intron 22 inversions in the factor VIII gene in severe haemophilia A. Blood Coagul Fibrinol 1997;8:445-9.
-
(1997)
Blood Coagul Fibrinol
, vol.8
, pp. 445-449
-
-
Yamazaki, E.1
Mohri, H.2
Inaba, H.3
Harono, H.4
Kanamori, H.5
Okubo, T.6
-
19
-
-
0029033458
-
Inversions of the factor VIII gene in Swedish patients with severe haemophilia A
-
Ljung R, Sjörin E. Inversions of the factor VIII gene in Swedish patients with severe haemophilia A. Eur J Haematol 1995;54:310-3.
-
(1995)
Eur J Haematol
, vol.54
, pp. 310-313
-
-
Ljung, R.1
Sjörin, E.2
-
21
-
-
0031243577
-
Another variant pattern of intron 22 inversion in factor VIII gene seen in a severe haemophilia A patient
-
Enayat MS, Theophilus BDM, Williams MD, Wilde JT, Hill FGH. Another variant pattern of intron 22 inversion in factor VIII gene seen in a severe haemophilia A patient. Thromb Haemost 1997;78:1303.
-
(1997)
Thromb Haemost
, vol.78
, pp. 1303
-
-
Enayat, M.S.1
Theophilus, B.D.M.2
Williams, M.D.3
Wilde, J.T.4
Hill, F.G.H.5
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