-
1
-
-
33646138963
-
Genetic diagnosis of haemophilia and other inherited bleeding disorders
-
Peyvandi F, Jayandharan G, Chandy M et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia 2006; 12(Suppl. 3): 82-9.
-
(2006)
Haemophilia
, vol.12
, Issue.SUPPL. 3
, pp. 82-89
-
-
Peyvandi, F.1
Jayandharan, G.2
Chandy, M.3
-
2
-
-
4444269047
-
Recessively inherited coagulation disorders
-
Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
-
(2004)
Blood
, vol.104
, pp. 1243-1252
-
-
Mannucci, P.M.1
Duga, S.2
Peyvandi, F.3
-
3
-
-
0021750055
-
Characterization of the human factor VIII gene
-
Gitschier J, Wood WI, Goralka TM et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
-
(1984)
Nature
, vol.312
, pp. 326-330
-
-
Gitschier, J.1
Wood, W.I.2
Goralka, T.M.3
-
4
-
-
0022257323
-
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
-
Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985; 24: 3736-50.
-
(1985)
Biochemistry
, vol.24
, pp. 3736-3750
-
-
Yoshitake, S.1
Schach, B.G.2
Foster, D.C.3
Davie, E.W.4
Kurachi, K.5
-
5
-
-
0022162221
-
The genetic linkage map of the human X chromosome
-
Drayna D, White R. The genetic linkage map of the human X chromosome. Science 1985; 230: 753-8.
-
(1985)
Science
, vol.230
, pp. 753-758
-
-
Drayna, D.1
White, R.2
-
6
-
-
0027351077
-
Haemophilia: strategies for carrier detection and prenatal diagnosis
-
Peake IR, Lillicrap DP, Boulyjenkov V et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull World Health Organ 1993; 71: 429-58.
-
(1993)
Bull World Health Organ
, vol.71
, pp. 429-458
-
-
Peake, I.R.1
Lillicrap, D.P.2
Boulyjenkov, V.3
-
7
-
-
27844606354
-
Carrier detection and prenatal diagnosis of hemophilia in developing countries
-
Peyvandi F. Carrier detection and prenatal diagnosis of hemophilia in developing countries. Semin J Thromb Haemost 2005; 31: 544-54.
-
(2005)
Semin J Thromb Haemost
, vol.31
, pp. 544-554
-
-
Peyvandi, F.1
-
8
-
-
0021224673
-
A clinically useful DNA probe closely linked to haemophilia A
-
Harper K, Winter RM, Pembrey ME, Hartley D, Davies KE, Tuddenham EGD. A clinically useful DNA probe closely linked to haemophilia A. Lancet 1984; ii: 6-8.
-
(1984)
Lancet
, vol.2
, pp. 6-8
-
-
Harper, K.1
Winter, R.M.2
Pembrey, M.E.3
Hartley, D.4
Davies, K.E.5
Tuddenham, E.G.D.6
-
9
-
-
0021677942
-
Structure of human factor VIII
-
Vehar GA, Keyt B, Eaton D et al. Structure of human factor VIII. Nature 1984; 312: 337-42.
-
(1984)
Nature
, vol.312
, pp. 337-342
-
-
Vehar, G.A.1
Keyt, B.2
Eaton, D.3
-
10
-
-
0021715168
-
Expression of active human factor VIII from recombinant DNA clones
-
Wood WI, Capon DJ, Simonsen CC et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330-7.
-
(1984)
Nature
, vol.312
, pp. 330-337
-
-
Wood, W.I.1
Capon, D.J.2
Simonsen, C.C.3
-
11
-
-
0021873242
-
Genetic mapping and diagnosis of haemophilia A achieved through a Bcl I polymorphism in the factor VIII gene
-
Gitschier J, Drayna D, Tuddenham EGD, White RL, Lawn RM. Genetic mapping and diagnosis of haemophilia A achieved through a Bcl I polymorphism in the factor VIII gene. Nature 1985; 314: 738-40.
-
(1985)
Nature
, vol.314
, pp. 738-740
-
-
Gitschier, J.1
Drayna, D.2
Tuddenham, E.G.D.3
White, R.L.4
Lawn, R.M.5
-
12
-
-
0021876387
-
Antenatal diagnosis and carrier detection of haemophilia A using a factor VIII gene probe
-
Gitschier J, Lawn RM, Rotblat F, Goldman E, Tuddenham EGD. Antenatal diagnosis and carrier detection of haemophilia A using a factor VIII gene probe. Lancet 1985; i: 1093.
-
(1985)
Lancet
, vol.1
, pp. 1093
-
-
Gitschier, J.1
Lawn, R.M.2
Rotblat, F.3
Goldman, E.4
Tuddenham, E.G.D.5
-
13
-
-
0022589996
-
A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A
-
Wion K, Tuddenham E, Lawn R. A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A. Nucl Acids Res 1986; 14: 4535.
-
(1986)
Nucl Acids Res
, vol.14
, pp. 4535
-
-
Wion, K.1
Tuddenham, E.2
Lawn, R.3
-
14
-
-
0025822844
-
Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
-
Lalloz MRA, McVey JH, Pattinson JK, Tuddenham EGD. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 1991; 338: 207-11.
-
(1991)
Lancet
, vol.338
, pp. 207-211
-
-
Lalloz, M.R.A.1
McVey, J.H.2
Pattinson, J.K.3
Tuddenham, E.G.D.4
-
15
-
-
0028241031
-
Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene
-
Lalloz MRA, Schwaab R, McVey JH, Michaelides K, Tuddenham EGD. Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br J Haematol 1994; 86: 804-9.
-
(1994)
Br J Haematol
, vol.86
, pp. 804-809
-
-
Lalloz, M.R.A.1
Schwaab, R.2
McVey, J.H.3
Michaelides, K.4
Tuddenham, E.G.D.5
-
16
-
-
0029551521
-
Molecular etiology of factor VIII deficiency in hemophilia A
-
Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA. Molecular etiology of factor VIII deficiency in hemophilia A. Adv Exp Med Biol 1995; 386: 19-34.
-
(1995)
Adv Exp Med Biol
, vol.386
, pp. 19-34
-
-
Antonarakis, S.E.1
Kazazian, H.H.2
Gitschier, J.3
Hutter, P.4
de Moerloose, P.5
Morris, M.A.6
-
17
-
-
0025257058
-
Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
-
Kogan S, Gitschier J. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87:2092-6.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 2092-2096
-
-
Kogan, S.1
Gitschier, J.2
-
18
-
-
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: 236-41.
-
(1993)
Nat Genet
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian Jr, H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
19
-
-
0025878641
-
Haemophilia A: database of nu-cleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene
-
Tuddenham EGD, Cooper DN, Gitschier J. et al. Haemophilia A: database of nu-cleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucl Acids Res 1991; 19: 4821-33.
-
(1991)
Nucl Acids Res
, vol.19
, pp. 4821-4833
-
-
Tuddenham, E.G.D.1
Cooper, D.N.2
Gitschier, J.3
-
20
-
-
0029976252
-
The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS
-
Wacey AI, Kemball-Cook G, Kazazian HH et al. The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucl Acids Res 1996; 24: 100-2.
-
(1996)
Nucl Acids Res
, vol.24
, pp. 100-102
-
-
Wacey, A.I.1
Kemball-Cook, G.2
Kazazian, H.H.3
-
21
-
-
0029617930
-
Haemophilia A: mutation type determines risk of inhibitor formation
-
Schwaab R, Brackmann HH, Seehafer J et al. Haemophilia A: mutation type determines risk of inhibitor formation. J Thromb Haemost 1995; 74: 1402-6.
-
(1995)
J Thromb Haemost
, vol.74
, pp. 1402-1406
-
-
Schwaab, R.1
Brackmann, H.H.2
Seehafer, J.3
-
22
-
-
79953703694
-
Noninvasive prenatal diagnosis of hemophilia by microflu-idics digital PCR analysis of maternal plasma DNA
-
Tsui NB, Kadir RA, Chan KC et al. Noninvasive prenatal diagnosis of hemophilia by microflu-idics digital PCR analysis of maternal plasma DNA. Blood 2011; 117: 3684-91.
-
(2011)
Blood
, vol.117
, pp. 3684-3691
-
-
Tsui, N.B.1
Kadir, R.A.2
Chan, K.C.3
-
23
-
-
46249098884
-
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM
-
Lin SY, Su YN, Hung CC et al. Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. BMC Med Genet 2008; 9: 53.
-
(2008)
BMC Med Genet
, vol.9
, pp. 53
-
-
Lin, S.Y.1
Su, Y.N.2
Hung, C.C.3
-
24
-
-
84862847388
-
-
MRC-Holland. MRC-Holland MLPA homepage. Available at: Accessed January 28
-
MRC-Holland. MRC-Holland MLPA homepage. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
25
-
-
79959513978
-
Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation-dependent probe amplification technique
-
Rafati M, Ravanbod S, Hoseini A et al. Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation-dependent probe amplification technique. Haemophilia 2011; 17: 705-7.
-
(2011)
Haemophilia
, vol.17
, pp. 705-707
-
-
Rafati, M.1
Ravanbod, S.2
Hoseini, A.3
-
26
-
-
52449132404
-
An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary
-
Mohl A, Marschalek R, Masszi T et al. An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary. J Thromb Haemost 2008; 6: 1729-35.
-
(2008)
J Thromb Haemost
, vol.6
, pp. 1729-1735
-
-
Mohl, A.1
Marschalek, R.2
Masszi, T.3
-
27
-
-
79955656385
-
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma
-
Castoldi E, Duckers C, Radu C et al. Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. J Thromb Haemost 2011; 9: 959-68.
-
(2011)
J Thromb Haemost
, vol.9
, pp. 959-968
-
-
Castoldi, E.1
Duckers, C.2
Radu, C.3
-
29
-
-
84862899769
-
-
HGMD. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. Available at: Accessed January 28
-
HGMD. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
30
-
-
84862847385
-
-
NCBI. dbSNP. Available at: Accessed January 28
-
NCBI. dbSNP. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
31
-
-
84862896313
-
-
NGRL. SNPCheck. Available at: Accessed January 28
-
NGRL. SNPCheck. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
32
-
-
78649871678
-
Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort
-
Hampshire DJ, Burghel GJ, Goudemand J et al. Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort. Haematologica 2010; 95: 2163-5.
-
(2010)
Haematologica
, vol.95
, pp. 2163-2165
-
-
Hampshire, D.J.1
Burghel, G.J.2
Goudemand, J.3
-
33
-
-
84862896314
-
-
NIBSC. WHO International Genetic Reference Panel for Haemophilia A, Intron-22 inversion. Available at: Accessed January 28
-
NIBSC. WHO International Genetic Reference Panel for Haemophilia A, Intron-22 inversion. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
34
-
-
84862896311
-
-
EuroGenTest. Best Practice Guidelines for Molecular Genetic Testing. Available at: Accessed January 28
-
EuroGenTest. Best Practice Guidelines for Molecular Genetic Testing. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
35
-
-
84862885526
-
-
HGNC. HUGO Gene Nomenclature Committee information homepage. Available at: Accessed January 28
-
HGNC. HUGO Gene Nomenclature Committee information homepage. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
36
-
-
84862896312
-
-
HGVS. Nomenclature for the description of sequence variations homepage. Available at: Accessed January 28
-
HGVS. Nomenclature for the description of sequence variations homepage. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
37
-
-
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. J Thromb Haemost 2006; 96: 597-601.
-
(2006)
J 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
-
38
-
-
84862896315
-
-
UKHCDO. Genetics Working Party. Available at: Accessed January 28
-
UKHCDO. Genetics Working Party. Available at: Accessed January 28, 2012.
-
(2012)
-
-
-
39
-
-
0033932714
-
Genetic testing and quality control in diagnostic laboratories
-
Dequeker E, Cassiman JJ. Genetic testing and quality control in diagnostic laboratories. Nat Genet 2000; 25: 259-60.
-
(2000)
Nat Genet
, vol.25
, pp. 259-260
-
-
Dequeker, E.1
Cassiman, J.J.2
-
40
-
-
0036797639
-
Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations--a cause for concern
-
Tripodi A, Peyvandi F, Chantarangkul V, Menegatti M, Mannucci PM. Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations--a cause for concern. J Thromb Haemost 2002; 88: 690-1.
-
(2002)
J Thromb Haemost
, vol.88
, pp. 690-691
-
-
Tripodi, A.1
Peyvandi, F.2
Chantarangkul, V.3
Menegatti, M.4
Mannucci, P.M.5
-
41
-
-
85084273869
-
External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3years
-
Mueller CR, Kristoffersson U, Stoppa-Lyonnet D. External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3years. Ann Oncol 2004; 15(Suppl. 1): I14-7.
-
(2004)
Ann Oncol
, vol.15
, Issue.SUPPL. 1
-
-
Mueller, C.R.1
Kristoffersson, U.2
Stoppa-Lyonnet, D.3
-
42
-
-
48249128741
-
Experience and outcome of 3years of a European EQA scheme for genetic testing of the spinocerebellar ataxias
-
Seneca S, Morris MA, Patton S, Elles R, Sequeiros J. Experience and outcome of 3years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. Eur J Hum Genet 2008; 16: 913-20.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 913-920
-
-
Seneca, S.1
Morris, M.A.2
Patton, S.3
Elles, R.4
Sequeiros, J.5
-
43
-
-
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. J Thromb Haemost 2003; 89: 201-2.
-
(2003)
J Thromb Haemost
, vol.89
, pp. 201-202
-
-
Bowen, D.J.1
Keeney, S.2
-
45
-
-
84862885528
-
-
WHO International Standard. 1st International Genetic Reference Panel for Haemophilia A, Intron 22 Inversion, Human gDNA. NIBSC code: 08/160. Instructions for use. Available at:. Accessed 5 January
-
WHO International Standard. 1st International Genetic Reference Panel for Haemophilia A, Intron 22 Inversion, Human gDNA. NIBSC code: 08/160. Instructions for use. Available at:. Accessed 5 January 2009.
-
(2009)
-
-
|