-
2
-
-
57149117963
-
-
HGMD. The Human Gene Mutation Database at the Institute ofMedical Genetics in Cardiff. Available at http://www.hgmd.cf.ac.uk/ac/index.php. Accessed January 10, 2008
-
HGMD. The Human Gene Mutation Database at the Institute ofMedical Genetics in Cardiff. Available at http://www.hgmd.cf.ac.uk/ac/index.php. Accessed January 10, 2008
-
-
-
-
3
-
-
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;5:236-241
-
(1993)
Nat Genet
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian Jr, H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
4
-
-
0036096037
-
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia 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 hemophilia A. Blood 2002;99:168-174
-
(2002)
Blood
, vol.99
, pp. 168-174
-
-
Bagnall, R.D.1
Waseem, N.2
Green, P.M.3
Giannelli, F.4
-
5
-
-
13244256856
-
Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population
-
Ghosh K, Shetty S, Mohanty D. Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population. J Thromb Haemost 2004;2:1481-1482
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1481-1482
-
-
Ghosh, K.1
Shetty, S.2
Mohanty, D.3
-
6
-
-
4444306193
-
The factor VIII gene intron 1 inversion mutation: Prevalence in severe hemophilia A patients in the UK
-
Cumming AM. The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK. J Thromb Haemost 2004;2:205-206
-
(2004)
J Thromb Haemost
, vol.2
, pp. 205-206
-
-
Cumming, A.M.1
-
7
-
-
35448995238
-
Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A
-
Muhle C, Zenker M, Chuzhanova N, Schneider H. Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A. Hum Mutat 2007;28:1045
-
(2007)
Hum Mutat
, vol.28
, pp. 1045
-
-
Muhle, C.1
Zenker, M.2
Chuzhanova, N.3
Schneider, H.4
-
8
-
-
24344475537
-
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A
-
Bogdanova N, Markoff A, Pollmann H, et al. Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat 2005;26:249-254
-
(2005)
Hum Mutat
, vol.26
, pp. 249-254
-
-
Bogdanova, N.1
Markoff, A.2
Pollmann, H.3
-
9
-
-
40049086790
-
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A
-
Santacroce R, Acquila M, Belvini D, et al. Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. J Hum Genet 2008;53:275-284
-
(2008)
J Hum Genet
, vol.53
, pp. 275-284
-
-
Santacroce, R.1
Acquila, M.2
Belvini, D.3
-
10
-
-
0036304866
-
First molecular characterization of an unequal homologous alu-mediated recombination event responsible for hemophilia
-
Vidal F, Farssac E, Tusell J, Puig L, Gallardo D. First molecular characterization of an unequal homologous alu-mediated recombination event responsible for hemophilia. Thromb Haemost 2002;88:12-16
-
(2002)
Thromb Haemost
, vol.88
, pp. 12-16
-
-
Vidal, F.1
Farssac, E.2
Tusell, J.3
Puig, L.4
Gallardo, D.5
-
11
-
-
19544391485
-
Homeologous recombination between AluSx-sequences as a cause of hemophilia
-
Rossetti LC, Goodeve A, Larripa IB, De Brasi CD. Homeologous recombination between AluSx-sequences as a cause of hemophilia. Hum Mutat 2004;24:440
-
(2004)
Hum Mutat
, vol.24
, pp. 440
-
-
Rossetti, L.C.1
Goodeve, A.2
Larripa, I.B.3
De Brasi, C.D.4
-
12
-
-
13244258293
-
Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: Homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24
-
Nakaya SM, Hsu TC, Geraghty SJ, Manco-Johnson MJ, Thompson AR. Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24. J Thromb Haemost 2004;2:1941-1945
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1941-1945
-
-
Nakaya, S.M.1
Hsu, T.C.2
Geraghty, S.J.3
Manco-Johnson, M.J.4
Thompson, A.R.5
-
13
-
-
0031976478
-
A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion
-
Van de Water N, Williams R, Ockelford P, Browett P. A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion. Thromb Haemost 1998;79:938-942
-
(1998)
Thromb Haemost
, vol.79
, pp. 938-942
-
-
Van de Water, N.1
Williams, R.2
Ockelford, P.3
Browett, P.4
-
14
-
-
0023867459
-
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
-
Kazazian HH Jr, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 1988;332:164-166
-
(1988)
Nature
, vol.332
, pp. 164-166
-
-
Kazazian Jr, H.H.1
Wong, C.2
Youssoufian, H.3
Scott, A.F.4
Phillips, D.G.5
Antonarakis, S.E.6
-
15
-
-
0042827457
-
Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A
-
Ganguly A, Dunbar T, Chen P, Godmilow L, Ganguly T. Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. Hum Genet 2003;113:348-352
-
(2003)
Hum Genet
, vol.113
, pp. 348-352
-
-
Ganguly, A.1
Dunbar, T.2
Chen, P.3
Godmilow, L.4
Ganguly, T.5
-
16
-
-
0035171986
-
An Alu insert as the cause of a severe form of hemophilia A
-
Sukarova E, Dimovski AJ, Tchacarova P, Petkov GH, Efremov GD. An Alu insert as the cause of a severe form of hemophilia A. Acta Haematol 2001;106:126-129
-
(2001)
Acta Haematol
, vol.106
, pp. 126-129
-
-
Sukarova, E.1
Dimovski, A.J.2
Tchacarova, P.3
Petkov, G.H.4
Efremov, G.D.5
-
17
-
-
37049008925
-
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication
-
Sheen CR, Jewell UR, Morris CM, et al. Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat 2007;28:1198-1206
-
(2007)
Hum Mutat
, vol.28
, pp. 1198-1206
-
-
Sheen, C.R.1
Jewell, U.R.2
Morris, C.M.3
-
18
-
-
0036727601
-
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A
-
Bogdanova N, Markoff A, Pollmann H, et al. Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. Hum Mutat 2002;20:236-237
-
(2002)
Hum Mutat
, vol.20
, pp. 236-237
-
-
Bogdanova, N.1
Markoff, A.2
Pollmann, H.3
-
19
-
-
37549017693
-
Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8)
-
Dai L, Cutler JA, Savidge GF, Mitchell MJ. Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8). J Thromb Haemost 2008;6:193-195
-
(2008)
J Thromb Haemost
, vol.6
, pp. 193-195
-
-
Dai, L.1
Cutler, J.A.2
Savidge, G.F.3
Mitchell, M.J.4
-
20
-
-
33845957929
-
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A
-
Bogdanova N, Markoff A, Eisert R, et al. Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat 2007;28:54-60
-
(2007)
Hum Mutat
, vol.28
, pp. 54-60
-
-
Bogdanova, N.1
Markoff, A.2
Eisert, R.3
-
21
-
-
3042527394
-
Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy
-
Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP. Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy. Haematologica 2004;89:758-759
-
(2004)
Haematologica
, vol.89
, pp. 758-759
-
-
Acquila, M.1
Pasino, M.2
Lanza, T.3
Bottini, F.4
Molinari, A.C.5
Bicocchi, M.P.6
-
23
-
-
33645730547
-
Characterization of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations
-
Vinciguerra C, Zawadzki C, Dargaud Y, et al. Characterization of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations. Thromb Haemost 2006;95:593-599
-
(2006)
Thromb Haemost
, vol.95
, pp. 593-599
-
-
Vinciguerra, C.1
Zawadzki, C.2
Dargaud, Y.3
-
24
-
-
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;11:481-491
-
(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
-
25
-
-
0033378313
-
Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients
-
Bagnall RD, Waseem NH, Green PM, Colvin B, Lee C, Giannelli F. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. Br J Haematol 1999;107:766-771
-
(1999)
Br J Haematol
, vol.107
, pp. 766-771
-
-
Bagnall, R.D.1
Waseem, N.H.2
Green, P.M.3
Colvin, B.4
Lee, C.5
Giannelli, F.6
-
26
-
-
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;3:332-339
-
(2005)
J Thromb Haemost
, vol.3
, pp. 332-339
-
-
El-Maarri, O.1
Herbiniaux, U.2
Graw, J.3
-
27
-
-
33645533252
-
Lack of F8 mRNA: A novel mechanism leading to hemophilia A
-
El-Maarri O, Singer H, Klein C, et al. Lack of F8 mRNA: a novel mechanism leading to hemophilia A. Blood 2006;107:2759-2765
-
(2006)
Blood
, vol.107
, pp. 2759-2765
-
-
El-Maarri, O.1
Singer, H.2
Klein, C.3
-
29
-
-
0029842964
-
Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1
-
Schneppenheim R, Budde U, Krey S, et al. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost 1996;76:598-602
-
(1996)
Thromb Haemost
, vol.76
, pp. 598-602
-
-
Schneppenheim, R.1
Budde, U.2
Krey, S.3
-
30
-
-
0029904086
-
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques
-
Nesbitt IM, Goodeve AC, Guilliatt AM, Makris M, Preston FE, Peake IR. Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. Thromb Haemost 1996;75:959-964
-
(1996)
Thromb Haemost
, vol.75
, pp. 959-964
-
-
Nesbitt, I.M.1
Goodeve, A.C.2
Guilliatt, A.M.3
Makris, M.4
Preston, F.E.5
Peake, I.R.6
-
32
-
-
13244256852
-
Familial multiple coagulation factor deficiencies: New biologic insight from rare genetic bleeding disorders
-
Zhang B, Ginsburg D. Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders. J Thromb Haemost 2004;2:1564-1572
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1564-1572
-
-
Zhang, B.1
Ginsburg, D.2
-
33
-
-
33344476901
-
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2
-
Zhang B, McGee B, Yamaoka JS, et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006;107:1903-1907
-
(2006)
Blood
, vol.107
, pp. 1903-1907
-
-
Zhang, B.1
McGee, B.2
Yamaoka, J.S.3
-
34
-
-
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;92:1458-1459
-
(1998)
Blood
, vol.92
, pp. 1458-1459
-
-
Liu, Q.1
Nozari, G.2
Sommer, S.S.3
-
35
-
-
0032431385
-
Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: Application to the inversion hotspot in the factor VIII gene
-
Liu Q, Sommer SS. Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene. Biotechniques 1998;25:1022-1028
-
(1998)
Biotechniques
, vol.25
, pp. 1022-1028
-
-
Liu, Q.1
Sommer, S.S.2
-
36
-
-
33645748620
-
Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR
-
Kilian NL, Pospisil V, Hanrahan V. Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR. Thromb Haemost 2006;95:746-747
-
(2006)
Thromb Haemost
, vol.95
, pp. 746-747
-
-
Kilian, N.L.1
Pospisil, V.2
Hanrahan, V.3
-
37
-
-
29244470832
-
Rapid single-step detection of the inversion hotspot of mutation in hemophilia A by real-time PCR
-
Vidal F, Sanchez-Garcia JF, Farssac E, Ramirez L, Gallardo D. Rapid single-step detection of the inversion hotspot of mutation in hemophilia A by real-time PCR. J Thromb Haemost 2005;3:2822-2823
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2822-2823
-
-
Vidal, F.1
Sanchez-Garcia, J.F.2
Farssac, E.3
Ramirez, L.4
Gallardo, D.5
-
38
-
-
33646042574
-
Int22h-related inversions causing hemophilia A: A novel insight into their origin and a new more discriminant PCR test for their detection
-
Bagnall RD, Giannelli F, Green PM. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost 2006;4:591-598
-
(2006)
J Thromb Haemost
, vol.4
, pp. 591-598
-
-
Bagnall, R.D.1
Giannelli, F.2
Green, P.M.3
-
40
-
-
0037250561
-
Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A
-
Bowen DJ, Keeney S. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A. Thromb Haemost 2003;89:201-202
-
(2003)
Thromb Haemost
, vol.89
, pp. 201-202
-
-
Bowen, D.J.1
Keeney, S.2
-
41
-
-
42149170507
-
Developing a new generation of tests for genotyping hemophilia causative rearrangements involving int22h and int1h hotspots in the factor 8 gene
-
Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Developing a new generation of tests for genotyping hemophilia causative rearrangements involving int22h and int1h hotspots in the factor 8 gene. J Thromb Haemost 2008;6:830-836
-
(2008)
J Thromb Haemost
, vol.6
, pp. 830-836
-
-
Rossetti, L.C.1
Radic, C.P.2
Larripa, I.B.3
De Brasi, C.D.4
-
42
-
-
0142259264
-
Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: Modeling of 13 novel amino acid substitutions
-
Habart D, Kalabova D, Novotny M, Vorlova Z. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. J Thromb Haemost 2003;1:773-781
-
(2003)
J Thromb Haemost
, vol.1
, pp. 773-781
-
-
Habart, D.1
Kalabova, D.2
Novotny, M.3
Vorlova, Z.4
-
43
-
-
34250727983
-
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: Detection of 26 novel mutations and correlation with FVIII inhibitor development
-
Repesse Y, Slaoui M, Ferrandiz D, et al. Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. J Thromb Haemost 2007;5:1469-1476
-
(2007)
J Thromb Haemost
, vol.5
, pp. 1469-1476
-
-
Repesse, Y.1
Slaoui, M.2
Ferrandiz, D.3
-
44
-
-
0031957807
-
Precise carrier diagnosis in families with haemophilia A: Use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis
-
Williams IJ, Abuzenadah A, Winship PR, et al. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998;79:723-726
-
(1998)
Thromb Haemost
, vol.79
, pp. 723-726
-
-
Williams, I.J.1
Abuzenadah, A.2
Winship, P.R.3
-
45
-
-
0034124571
-
Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group
-
Goodeve AC, Williams I, Bray GL, Peake IR. Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group. Thromb Haemost 2000;83:844-848
-
(2000)
Thromb Haemost
, vol.83
, pp. 844-848
-
-
Goodeve, A.C.1
Williams, I.2
Bray, G.L.3
Peake, I.R.4
-
46
-
-
32244437594
-
High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison
-
Davies H, Dicks E, Stephens P, et al. High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison. Genomics 2006;87:427-432
-
(2006)
Genomics
, vol.87
, pp. 427-432
-
-
Davies, H.1
Dicks, E.2
Stephens, P.3
-
47
-
-
36649014064
-
Detection of factor VIII gene mutations by high-resolution melting analysis
-
Laurie AD, Smith MP, George PM. Detection of factor VIII gene mutations by high-resolution melting analysis. Clin Chem 2007;53:2211-2214
-
(2007)
Clin Chem
, vol.53
, pp. 2211-2214
-
-
Laurie, A.D.1
Smith, M.P.2
George, P.M.3
-
48
-
-
57149112266
-
Rapid turnaround for full mutation analysis of larger genes: Robotic processing and automated DNA sequencing of the essential regions of the FVIII (F8) gene for mutation identification in haemophilia A
-
Keeney S, Watson P, Hay C, Cumming A. Rapid turnaround for full mutation analysis of larger genes: robotic processing and automated DNA sequencing of the essential regions of the FVIII (F8) gene for mutation identification in haemophilia A. J Med Genet 2004;41(Suppl1):S67
-
(2004)
J Med Genet
, vol.41
, Issue.SUPPL.1
-
-
Keeney, S.1
Watson, P.2
Hay, C.3
Cumming, A.4
-
49
-
-
0035067711
-
Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: Identification of 14 novel mutations
-
Vidal F, Farssac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Thromb Haemost 2001;85:580-583
-
(2001)
Thromb Haemost
, vol.85
, pp. 580-583
-
-
Vidal, F.1
Farssac, E.2
Altisent, C.3
Puig, L.4
Gallardo, D.5
-
50
-
-
57149098362
-
-
homepage. Available at, Accessed March 3
-
Staden Package homepage. Available at http://staden.sourceforge. net/. Accessed March 3, 2008
-
(2008)
Staden Package
-
-
-
51
-
-
0033631355
-
Mutations of the factor VIII gene in Thai hemophilia A patients
-
Akkarapatumwong V, Oranwiroon S, Pung-amritt P, et al. Mutations of the factor VIII gene in Thai hemophilia A patients. Hum Mutat 2000;15:117-118
-
(2000)
Hum Mutat
, vol.15
, pp. 117-118
-
-
Akkarapatumwong, V.1
Oranwiroon, S.2
Pung-amritt, P.3
-
52
-
-
0032997912
-
Start of UK confidential haemophilia A database: Analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres
-
Waseem NH, Bagnall R, Green PM, Giannelli F. Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. Thromb Haemost 1999;81:900-905
-
(1999)
Thromb Haemost
, vol.81
, pp. 900-905
-
-
Waseem, N.H.1
Bagnall, R.2
Green, P.M.3
Giannelli, F.4
-
53
-
-
18644367266
-
Stabilization of mRNA expression in whole blood samples
-
Rainen L, Oelmueller U, Jurgensen S, et al. Stabilization of mRNA expression in whole blood samples. Clin Chem 2002;48:1883-1890
-
(2002)
Clin Chem
, vol.48
, pp. 1883-1890
-
-
Rainen, L.1
Oelmueller, U.2
Jurgensen, S.3
-
54
-
-
34548304770
-
Characterization of sequence breakpoints in two haemophiliac patients with large FVIII gene deletions
-
Fernandez-Lopez O, Garcia-Lozano JR, Nunez-Vazquez R, Perez-Garrido R, Nunez-Roldan A. Characterization of sequence breakpoints in two haemophiliac patients with large FVIII gene deletions. Haemophilia 2007;13:682-684
-
(2007)
Haemophilia
, vol.13
, pp. 682-684
-
-
Fernandez-Lopez, O.1
Garcia-Lozano, J.R.2
Nunez-Vazquez, R.3
Perez-Garrido, R.4
Nunez-Roldan, A.5
-
55
-
-
43149105189
-
Heterozygous large deletions of factor 8 gene in females identified by multiplex PCR-LC
-
Pavlova A, Forster T, Delev D, et al. Heterozygous large deletions of factor 8 gene in females identified by multiplex PCR-LC. Haemophilia 2008;14:599-606
-
(2008)
Haemophilia
, vol.14
, pp. 599-606
-
-
Pavlova, A.1
Forster, T.2
Delev, D.3
-
56
-
-
24944584171
-
Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis
-
Tizzano EF, Barcelo MJ, Baena M, et al. Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis. Thromb Haemost 2005;94:661-664
-
(2005)
Thromb Haemost
, vol.94
, pp. 661-664
-
-
Tizzano, E.F.1
Barcelo, M.J.2
Baena, M.3
-
57
-
-
57149087209
-
-
MRC-Holland. MRC-Holland MLPA homepage. Available at http://www.mlpa.com/ pages/indexpag.html. Accessed February 26, 2008
-
MRC-Holland. MRC-Holland MLPA homepage. Available at http://www.mlpa.com/ pages/indexpag.html. Accessed February 26, 2008
-
-
-
-
58
-
-
57149118403
-
-
Lannoy N, Abinet I, Verellen C, Vermylen C, Hermans K, Dahan K. Proposition for a multi-step mutation detection in haemophilia A. ISTH 2007 Congress abstracts 2007: ISTH07A01_P-M-138.
-
Lannoy N, Abinet I, Verellen C, Vermylen C, Hermans K, Dahan K. Proposition for a multi-step mutation detection in haemophilia A. ISTH 2007 Congress abstracts 2007: ISTH07A01_P-M-138.
-
-
-
-
59
-
-
57149115889
-
-
Lin HY, Chen M, Chang HH, et al. Severe haemophilia A and factor VIII inhibitor occurs in the young girl who has a carrier mother, Turner's syndrome and chromosomal structural abnormalities with 45X(22)/46,X,IDIC(X)(Q21)(8). ISTH 2007 Congress abstracts 2007; P-M-142
-
Lin HY, Chen M, Chang HH, et al. Severe haemophilia A and factor VIII inhibitor occurs in the young girl who has a carrier mother, Turner's syndrome and chromosomal structural abnormalities with 45X(22)/46,X,IDIC(X)(Q21)(8). ISTH 2007 Congress abstracts 2007; P-M-142
-
-
-
-
60
-
-
57149103253
-
-
Djambas Khayat C, Salem N, Chouery E, et al. Detection of 23 novel mutations in Lebanese hemophilia patients. ISTH 2007 Congress abstracts 2007; P-S-156
-
Djambas Khayat C, Salem N, Chouery E, et al. Detection of 23 novel mutations in Lebanese hemophilia patients. ISTH 2007 Congress abstracts 2007; P-S-156
-
-
-
-
61
-
-
4844230309
-
Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India
-
Jayandharan G, Shaji RV, George B, Chandy M, Srivastava A. Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India. Haemophilia 2004;10:553-559
-
(2004)
Haemophilia
, vol.10
, pp. 553-559
-
-
Jayandharan, G.1
Shaji, R.V.2
George, B.3
Chandy, M.4
Srivastava, A.5
-
62
-
-
0035011652
-
Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: Carrier detection and prenatal diagnosis
-
Soares RP, Chamone DA, Bydlowski SP. Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis. Haemophilia 2001;7:299-305
-
(2001)
Haemophilia
, vol.7
, pp. 299-305
-
-
Soares, R.P.1
Chamone, D.A.2
Bydlowski, S.P.3
-
63
-
-
33646473393
-
Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection
-
Azimifar SB, Seyedna SY, Zeinali S. Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection. Am J Hematol 2006;81:335-339
-
(2006)
Am J Hematol
, vol.81
, pp. 335-339
-
-
Azimifar, S.B.1
Seyedna, S.Y.2
Zeinali, S.3
-
64
-
-
34247330151
-
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels
-
Viel KR, Machiah DK, Warren DM, et al. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood 2007;109:3713-3724
-
(2007)
Blood
, vol.109
, pp. 3713-3724
-
-
Viel, K.R.1
Machiah, D.K.2
Warren, D.M.3
-
65
-
-
57149091285
-
-
NCBI db SNP webpage. Available at, Accessed February 26, 2008
-
NCBI db SNP webpage. Available at http://www.ncbi.nlm.nih.gov/projects/ SNP/. Accessed February 26, 2008
-
-
-
-
66
-
-
13844253968
-
Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR
-
Kim JW, Park SY, Kim YM, Kim JM, Kim DJ, Ryu HM. Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR. Haemophilia 2005;11:38-42
-
(2005)
Haemophilia
, vol.11
, pp. 38-42
-
-
Kim, J.W.1
Park, S.Y.2
Kim, Y.M.3
Kim, J.M.4
Kim, D.J.5
Ryu, H.M.6
-
67
-
-
33645961575
-
A highly informative, multiplexed assay for the indirect detection of hemophilia A using five-linked microsatellites
-
Harraway JR, Smith MP, George PM. A highly informative, multiplexed assay for the indirect detection of hemophilia A using five-linked microsatellites. J Thromb Haemost 2006;4:587-590
-
(2006)
J Thromb Haemost
, vol.4
, pp. 587-590
-
-
Harraway, J.R.1
Smith, M.P.2
George, P.M.3
-
68
-
-
0031947232
-
Utility of XYamelogenin gene primers for detection of sex chromosomes
-
Chowdhury MR, Mathur R, Verma IC. Utility of XYamelogenin gene primers for detection of sex chromosomes. Indian J Med Res 1998;107:182-186
-
(1998)
Indian J Med Res
, vol.107
, pp. 182-186
-
-
Chowdhury, M.R.1
Mathur, R.2
Verma, I.C.3
-
69
-
-
34548176741
-
Testing for maternal cell contamination in prenatal samples: A comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories
-
Schrijver I, Cherny SC, Zehnder JL. Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn 2007;9:394-400
-
(2007)
J Mol Diagn
, vol.9
, pp. 394-400
-
-
Schrijver, I.1
Cherny, S.C.2
Zehnder, J.L.3
-
70
-
-
33847239357
-
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia
-
Santacroce R, Vecchione G, Tomaiyolo M, et al. Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia. Haemophilia 2006;12:417-422
-
(2006)
Haemophilia
, vol.12
, pp. 417-422
-
-
Santacroce, R.1
Vecchione, G.2
Tomaiyolo, M.3
-
71
-
-
33645000458
-
Noninvasive first trimester determination of fetal gender: A new approach for prenatal diagnosis of haemophilia
-
Chi C, Hyett JA, Finning KM, Lee CA, Kadir RA. Noninvasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia. BJOG 2006;113:239-242
-
(2006)
BJOG
, vol.113
, pp. 239-242
-
-
Chi, C.1
Hyett, J.A.2
Finning, K.M.3
Lee, C.A.4
Kadir, R.A.5
-
72
-
-
36048942020
-
Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood
-
Sekizawa A, Purwosunu Y, Matsuoka R, et al. Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood. J Obstet Gynaecol Res 2007;33:747-764
-
(2007)
J Obstet Gynaecol Res
, vol.33
, pp. 747-764
-
-
Sekizawa, A.1
Purwosunu, Y.2
Matsuoka, R.3
-
73
-
-
33645552865
-
Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A
-
Michaelides K, Tuddenham EG, Turner C, Lavender B, Lavery SA. Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A. Thromb Haemost 2006;95:373-379
-
(2006)
Thromb Haemost
, vol.95
, pp. 373-379
-
-
Michaelides, K.1
Tuddenham, E.G.2
Turner, C.3
Lavender, B.4
Lavery, S.A.5
-
74
-
-
11044225401
-
Preimplantation genetic diagnosis: New reproductive options for carriers of haemophilia
-
Lavery S. Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia. Haemophilia 2004;10(Suppl 4):126-132
-
(2004)
Haemophilia
, vol.10
, Issue.SUPPL. 4
, pp. 126-132
-
-
Lavery, S.1
-
75
-
-
33846281934
-
Preimplantation genetic diagnosis for monogenic diseases: Overview and emerging issues
-
Renwick P, Ogilvie CM. Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev Mol Diagn 2007;7:33-43
-
(2007)
Expert Rev Mol Diagn
, vol.7
, pp. 33-43
-
-
Renwick, P.1
Ogilvie, C.M.2
-
77
-
-
22744439187
-
The molecular analysis of haemophilia A: A guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network
-
Keeney S, MitchellM, Goodeve A. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network. Haemophilia 2005;11:387-397
-
(2005)
Haemophilia
, vol.11
, pp. 387-397
-
-
Keeney, S.1
Mitchell, M.2
Goodeve, A.3
-
78
-
-
57149107519
-
-
UVs in Clinical Molecular Genetics. Available at, Accessed March 2, 2008
-
Bell J, Bodmer D, Sistermans E, Ramsden S. Practice Guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Available at http://cmgsweb.shared.hosting.zen.co.uk/BPGs/ Best_ Practice_Guidelines.htm. Accessed March 2, 2008
-
Practice Guidelines for the Interpretation and Reporting of Unclassified Variants
-
-
Bell, J.1
Bodmer, D.2
Sistermans, E.3
Ramsden, S.4
-
79
-
-
33751213367
-
The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia
-
Perry DJ, Goodeve A, Hill M, Jennings I, Kitchen S, Walker I. The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia. Thromb Haemost 2006;96:597-601
-
(2006)
Thromb Haemost
, vol.96
, pp. 597-601
-
-
Perry, D.J.1
Goodeve, A.2
Hill, M.3
Jennings, I.4
Kitchen, S.5
Walker, I.6
-
80
-
-
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;13:311-316
-
(2007)
Haemophilia
, vol.13
, pp. 311-316
-
-
Castaman, G.1
Giacomelli, S.H.2
Ghiotto, R.3
-
81
-
-
27744541337
-
Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population
-
Boekhorst J, Verbruggen B, Lavergne JM, et al. Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population. Br J Haematol 2005;131:109-117
-
(2005)
Br J Haematol
, vol.131
, pp. 109-117
-
-
Boekhorst, J.1
Verbruggen, B.2
Lavergne, J.M.3
-
82
-
-
33745714431
-
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: Results from a single institution
-
Guillet B, Lambert T, d'Oiron R, et al. Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. Hum Mutat 2006;27:676-685
-
(2006)
Hum Mutat
, vol.27
, pp. 676-685
-
-
Guillet, B.1
Lambert, T.2
d'Oiron, R.3
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