-
1
-
-
0036096037
-
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemohilia A
-
Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemohilia A. Blood 2002; 99: 168-74.
-
(2002)
Blood
, vol.99
, pp. 168-174
-
-
Bagnall, R.D.1
Waseem, N.2
Green, P.M.3
Giannelli, F.4
-
2
-
-
84857115935
-
-
The haemophilia A mutation, structure, test and resource site. (HAMSTeRS)
-
The haemophilia A mutation, structure, test and resource site. (HAMSTeRS) 2005.
-
(2005)
-
-
-
3
-
-
0036218048
-
Haemophilia A and haemophilia B: molecular insights
-
Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Molecular Pathology 2002; 55: 127-44.
-
(2002)
Molecular Pathology
, vol.55
, pp. 127-144
-
-
Bowen, D.J.1
-
4
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 3: 236-41.
-
(1993)
Nat Genet
, vol.3
, pp. 236-241
-
-
Lakich, D.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
5
-
-
0025796586
-
Rapid PCR analysis of the St14 (DXS52) VNTR
-
1944.
-
Richards B, Heiling R, Oberle I, Storjohann L, Horn GT. Rapid PCR analysis of the St14 (DXS52) VNTR. Nucleic Acids Res 1991; 8: 1944.
-
(1991)
Nucleic Acids Res
, vol.8
-
-
Richards, B.1
Heiling, R.2
Oberle, I.3
Storjohann, L.4
Horn, G.T.5
-
6
-
-
33646006106
-
A rapid multifluorescent polymerase chain reaction for genetic counseling in Chinese haemophilia A families
-
Yi F, Xuefeng W, Jing D, Hongli W. A rapid multifluorescent polymerase chain reaction for genetic counseling in Chinese haemophilia A families. Haemophilia 2006; 1: 62-7.
-
(2006)
Haemophilia
, vol.1
, pp. 62-67
-
-
Yi, F.1
Xuefeng, W.2
Jing, D.3
Hongli, W.4
-
7
-
-
84857117101
-
Gene diagnosis of haemophilia B by multiple STR analysis
-
Xiangfan L, Xuefeng W, Qishi F, Haiyan C, Yi F, Hongli W. Gene diagnosis of haemophilia B by multiple STR analysis. Chinese Journal of Hematology 2002; 3: 147-50.
-
(2002)
Chinese Journal of Hematology
, vol.3
, pp. 147-150
-
-
Xiangfan, L.1
Xuefeng, W.2
Qishi, F.3
Haiyan, C.4
Yi, F.5
Hongli, W.6
-
8
-
-
50449095748
-
Recombination in a Chinese haemophilia A family
-
Yeling L, Xuefeng W, Qiulan D, Jing D, Xiaodong X, Hongli W. Recombination in a Chinese haemophilia A family. Pathology 2008; 6: 635-8.
-
(2008)
Pathology
, vol.6
, pp. 635-638
-
-
Yeling, L.1
Xuefeng, W.2
Qiulan, D.3
Jing, D.4
Xiaodong, X.5
Hongli, W.6
-
9
-
-
22744439187
-
The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors organization haemophilia genetics laboratory network
-
UK Haemophilia Center Doctors' Organization Haemophilia Genetics Labotratory Network.
-
Keeney S, Mitchell M, Goodeve A; UK Haemophilia Center Doctors' Organization Haemophilia Genetics Labotratory Network. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors organization haemophilia genetics laboratory network. Haemophilia 2005; 4:387-97.
-
(2005)
Haemophilia
, vol.4
, pp. 387-397
-
-
Keeney, S.1
Mitchell, M.2
Goodeve, A.3
-
10
-
-
0141921422
-
Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22
-
Tizzano EF, Cornet M, Domenech M, Baiget M. Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22. Haemophilia 2003; 5: 584-7.
-
(2003)
Haemophilia
, vol.5
, pp. 584-587
-
-
Tizzano, E.F.1
Cornet, M.2
Domenech, M.3
Baiget, M.4
-
11
-
-
1542360805
-
Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients
-
Salviato R, Belvini D, Radossi P, Tagariello G. Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients. Haemophilia 2004; 2: 194-6.
-
(2004)
Haemophilia
, vol.2
, pp. 194-196
-
-
Salviato, R.1
Belvini, D.2
Radossi, P.3
Tagariello, G.4
-
12
-
-
0037711395
-
Frequency of factor VIII 1 inversion in a cohort of severe hemophilia A Italian patients
-
ELT17
-
Acquila M, Pasino M, Lanza T, Bottini F, Boeri E, Bicocchi MP. Frequency of factor VIII 1 inversion in a cohort of severe hemophilia A Italian patients. Haematologica 2003; 5: ELT17.
-
(2003)
Haematologica
, vol.5
-
-
Acquila, M.1
Pasino, M.2
Lanza, T.3
Bottini, F.4
Boeri, E.5
Bicocchi, M.P.6
-
13
-
-
1542284834
-
Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe haemophilia A in the Czech Republic
-
Habart D, Kalabova D, Hrachovinova I, Vorlova Z. Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe haemophilia A in the Czech Republic. J Thromb Haemost 2003; 6: 1323-4.
-
(2003)
J Thromb Haemost
, vol.6
, pp. 1323-1324
-
-
Habart, D.1
Kalabova, D.2
Hrachovinova, I.3
Vorlova, Z.4
-
14
-
-
0036331974
-
11 haemophilia A patients without mutations in the factor VIII encoding gene
-
Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J. 11 haemophilia A patients without mutations in the factor VIII encoding gene. Thromb Haemost 2002; 2: 357-60.
-
(2002)
Thromb Haemost
, vol.2
, pp. 357-360
-
-
Klopp, N.1
Oldenburg, J.2
Uen, C.3
Schneppenheim, R.4
Graw, J.5
-
15
-
-
19544372311
-
Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene
-
El-Maarri O, Herbiniaux U, Graw J et al. Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. J Thromb Haemost 2005; 3: 332-9.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 332-339
-
-
El-Maarri, O.1
Herbiniaux, U.2
Graw, J.3
-
16
-
-
0034972486
-
Somatic mosaicism in haemophilia A: a fairly common event
-
Leuer M, Oldenburg J, Lavergne JM et al. Somatic mosaicism in haemophilia A: a fairly common event. Am J Hum Genet 2001; 1: 75-87.
-
(2001)
Am J Hum Genet
, vol.1
, pp. 75-87
-
-
Leuer, M.1
Oldenburg, J.2
Lavergne, J.M.3
-
17
-
-
24644437294
-
Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions
-
Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia 2005; 11: 481-91.
-
(2005)
Haemophilia
, vol.11
, pp. 481-491
-
-
Jayandharan, G.1
Shaji, R.V.2
Baidya, S.3
Nair, S.C.4
Chandy, M.5
Srivastava, A.6
-
18
-
-
34248524758
-
Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene
-
Castaman G, Giacomelli SH, Ghiotto R et al. Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene. Haemophilia 2007; 13: 311-6.
-
(2007)
Haemophilia
, vol.13
, pp. 311-316
-
-
Castaman, G.1
Giacomelli, S.H.2
Ghiotto, R.3
-
19
-
-
0029013671
-
Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients
-
Pieneman WC, Deutz-Terlouw PP, Reitsma PH, Briet E. Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. Br J Haematol 1995; 90: 442-9.
-
(1995)
Br J Haematol
, vol.90
, pp. 442-449
-
-
Pieneman, W.C.1
Deutz-Terlouw, P.P.2
Reitsma, P.H.3
Briet, E.4
-
20
-
-
0025989429
-
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis
-
Higuchi M, Antonarakis SE, Kasch L et al. Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci 1991; 88: 8307-11.
-
(1991)
Proc Natl Acad Sci
, vol.88
, pp. 8307-8311
-
-
Higuchi, M.1
Antonarakis, S.E.2
Kasch, L.3
-
21
-
-
0036389873
-
High throughput mutation screening of the factor VIII gene(F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation
-
Citron M, Godmilow L, Ganguly T, Ganguly A. High throughput mutation screening of the factor VIII gene(F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. Hum Mutat 2002; 20: 267-74.
-
(2002)
Hum Mutat
, vol.20
, pp. 267-274
-
-
Citron, M.1
Godmilow, L.2
Ganguly, T.3
Ganguly, A.4
|