-
1
-
-
0029790560
-
The factor IX gene as a model for analysis of human germline mutations: An update
-
Sommer SS, Ketterling RP. The factor IX gene as a model for analysis of human germline mutations: an update. Hum Mol Genet 1996; 5: 1505-14.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1505-1514
-
-
Sommer, S.S.1
Ketterling, R.P.2
-
2
-
-
0028959005
-
Regulatory mechanism of the factor IX gene
-
Kurachi K, Kurachi S. Regulatory mechanism of the factor IX gene. Thromb Haemost 1995; 73: 333-9.
-
(1995)
Thromb Haemost
, vol.73
, pp. 333-339
-
-
Kurachi, K.1
Kurachi, S.2
-
4
-
-
78651020237
-
A new estimate of the linkage between the genes for colour blindness and haemophilia in man
-
Haldane JBS, Smith CAB. A new estimate of the linkage between the genes for colour blindness and haemophilia in man. Ann Eugen 1947; 14: 10-31.
-
(1947)
Ann Eugen
, vol.14
, pp. 10-31
-
-
Haldane, J.B.S.1
Smith, C.A.B.2
-
5
-
-
77049313451
-
Ueber eine besondere form hamorrhagischer diathese
-
Koller. Ueber eine besondere form hamorrhagischer diathese. Schweizerischen medizinischen Wochenschrift 1950; 80: 1101-20.
-
(1950)
Schweizerischen Medizinischen Wochenschrift
, vol.80
, pp. 1101-1120
-
-
Koller1
-
6
-
-
84873764787
-
Christmas disease: A condition previously mistaken for haemophilia
-
Biggs R, Douglas AS, Macfarlane RG, Dacie JV, Pitney WR, Merskey C, O'Brien JR. Christmas disease: a condition previously mistaken for haemophilia. Br Med J 1952; 2: 1378-82.
-
(1952)
Br Med J
, vol.2
, pp. 1378-1382
-
-
Biggs, R.1
Douglas, A.S.2
Macfarlane, R.G.3
Dacie, J.V.4
Pitney, W.R.5
Merskey, C.6
O'Brien, J.R.7
-
7
-
-
0029129325
-
The Canadian Hemophilia Registry as the basis for a national system for monitoring the use of factor concentrates
-
Walker I, Pai M, Akabutu J, Ritchie B, Growe G, Poon MC, Card R, et al. The Canadian Hemophilia Registry as the basis for a national system for monitoring the use of factor concentrates. Transfusion 1995; 35: 548-51.
-
(1995)
Transfusion
, vol.35
, pp. 548-551
-
-
Walker, I.1
Pai, M.2
Akabutu, J.3
Ritchie, B.4
Growe, G.5
Poon, M.C.6
Card, R.7
-
8
-
-
0018350608
-
Relationship of factor IX antigen and coagulant in haemophilia B patients and carriers
-
Pechet L, Tiarks CY, Stevens J, Sudhindra RR, Lipworth L. Relationship of factor IX antigen and coagulant in haemophilia B patients and carriers. Thromb Haemost 1978; 40: 465-77.
-
(1978)
Thromb Haemost
, vol.40
, pp. 465-477
-
-
Pechet, L.1
Tiarks, C.Y.2
Stevens, J.3
Sudhindra, R.R.4
Lipworth, L.5
-
9
-
-
0343941338
-
Isolation and characterisation of a cDNA coding for human factor IX
-
Kurachi K, Davie EW. Isolation and characterisation of a cDNA coding for human factor IX. Proc Natl Acad Sci USA 1982; 79: 6461-4.
-
(1982)
Proc Natl Acad Sci USA
, vol.79
, pp. 6461-6464
-
-
Kurachi, K.1
Davie, E.W.2
-
10
-
-
0019957533
-
Molecular cloning of the gene for human anti-haemophilia factor IX
-
Choo KH, Gould KG, Rees DJG, Brownlee GG. Molecular cloning of the gene for human anti-haemophilia factor IX. Nature 1982; 299: 178-80.
-
(1982)
Nature
, vol.299
, pp. 178-180
-
-
Choo, K.H.1
Gould, K.G.2
Rees, D.J.G.3
Brownlee, G.G.4
-
11
-
-
0019188929
-
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation
-
Pai GS, Sprenkle JA, Do TT, Mareni CE, Migeon BR. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci USA 1980; 77: 2810-13.
-
(1980)
Proc Natl Acad Sci USA
, vol.77
, pp. 2810-2813
-
-
Pai, G.S.1
Sprenkle, J.A.2
Do, T.T.3
Mareni, C.E.4
Migeon, B.R.5
-
12
-
-
0026001405
-
Low oculocerebrorenal syndrome in a female with a balanced X;20 translocation: Mapping of the X chromosome breakpoint
-
Mueller OT, Hartsfield JK, Jr., Gallardo LA, Essig YP, Miller KL, Papenhausen PR, Tedesco TA. Low oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. Am J Hum Genet 1991; 49: 804-10.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 804-810
-
-
Mueller, O.T.1
Hartsfield Jr., J.K.2
Gallardo, L.A.3
Essig, Y.P.4
Miller, K.L.5
Papenhausen, P.R.6
Tedesco, T.A.7
-
13
-
-
0024077350
-
Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients
-
Anson DS, Blake DJ, Winship PR, Birnbaum D, Brownlee GG. Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients. EMBO J 1988; 7: 2795-9.
-
(1988)
EMBO J
, vol.7
, pp. 2795-2799
-
-
Anson, D.S.1
Blake, D.J.2
Winship, P.R.3
Birnbaum, D.4
Brownlee, G.G.5
-
14
-
-
0021435842
-
The gene stucture of human anti-haemophilic factor IX
-
Anson DS, Choo KH, Rees DJG, Giannelli F, Gould K, Huddleston JA, Brownlee GG. The gene stucture of human anti-haemophilic factor IX. EMBO J 1984; 3: 1053-60.
-
(1984)
EMBO J
, vol.3
, pp. 1053-1060
-
-
Anson, D.S.1
Choo, K.H.2
Rees, D.J.G.3
Giannelli, F.4
Gould, K.5
Huddleston, J.A.6
Brownlee, G.G.7
-
15
-
-
0025160041
-
Localization of transcription initiation sites in the human coagulation factor IX gene
-
Reijnen MJ, Bertina RM, Reitsma PH. Localization of transcription initiation sites in the human coagulation factor IX gene. FEBS Let 1990; 270: 207-10.
-
(1990)
FEBS Let
, vol.270
, pp. 207-210
-
-
Reijnen, M.J.1
Bertina, R.M.2
Reitsma, P.H.3
-
16
-
-
0028211345
-
Regulatory mechanism of human factor IX gene: Protein binding at the Leyden-specific region
-
Kurachi S, Furukawa M, Salier JP, Wu CT, Wilson EJ, French FS, Kurachi K. Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region. Biochemistry 1994; 33: 1580-91.
-
(1994)
Biochemistry
, vol.33
, pp. 1580-1591
-
-
Kurachi, S.1
Furukawa, M.2
Salier, J.P.3
Wu, C.T.4
Wilson, E.J.5
French, F.S.6
Kurachi, K.7
-
17
-
-
0023640864
-
The propeptide region of clotting Factor DC is a signal for a vitamin K dependent carboxylase: Evidence from protein engineering of amino acid -4
-
Galeffi P, Brownlee GG. The propeptide region of clotting Factor DC is a signal for a vitamin K dependent carboxylase: evidence from protein engineering of amino acid -4. Nucleic Acids Res 1987; 15: 9505-13.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 9505-9513
-
-
Galeffi, P.1
Brownlee, G.G.2
-
18
-
-
0025055089
-
The first EGF-like domain from human factor IX contains a high-affinity calcium binding site
-
Handford PA, Baron M, Mayhew M, Willis A, Beesley T, Brownlee GG, Campbell ID. The first EGF-like domain from human factor IX contains a high-affinity calcium binding site. EMBO J 1990; 9: 475-80.
-
(1990)
EMBO J
, vol.9
, pp. 475-480
-
-
Handford, P.A.1
Baron, M.2
Mayhew, M.3
Willis, A.4
Beesley, T.5
Brownlee, G.G.6
Campbell, I.D.7
-
19
-
-
0029050220
-
The role of the second growth-factor domain of human factor IXa in binding to platelets and in factor-X activation
-
Ahmad SS, Rawala R, Cheung WF, Stafford DW, Walsh PN. The role of the second growth-factor domain of human factor IXa in binding to platelets and in factor-X activation. Biochem J 1995; 310: 427-31.
-
(1995)
Biochem J
, vol.310
, pp. 427-431
-
-
Ahmad, S.S.1
Rawala, R.2
Cheung, W.F.3
Stafford, D.W.4
Walsh, P.N.5
-
20
-
-
0022257323
-
Nucleotide sequence of the gene for human factor IX (antihaemophilic factor B)
-
Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi W. Nucleotide sequence of the gene for human factor IX (antihaemophilic factor B). Biochem J 1985; 24: 3736-50.
-
(1985)
Biochem J
, vol.24
, pp. 3736-3750
-
-
Yoshitake, S.1
Schach, B.G.2
Foster, D.C.3
Davie, E.W.4
Kurachi, W.5
-
21
-
-
0021340565
-
Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency)
-
Giannelli F, Choo KH, Winship PR. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet 1984; 1: 239-41.
-
(1984)
Lancet
, vol.1
, pp. 239-241
-
-
Giannelli, F.1
Choo, K.H.2
Winship, P.R.3
-
22
-
-
0021760755
-
Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms
-
Winship PR, Anson DS, Rizza CR, Brownlee GG. Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res 1984; 12: 8861-8.
-
(1984)
Nucleic Acids Res
, vol.12
, pp. 8861-8868
-
-
Winship, P.R.1
Anson, D.S.2
Rizza, C.R.3
Brownlee, G.G.4
-
23
-
-
0022472262
-
Use of a BamHI polymorphism in the factor IX gene for the determination of haemophilia B carrier status
-
Hay CW, Robertson KA, Yong SL, Thompson AR, Growe GH, MacGillivray RTA. Use of a BamHI polymorphism in the factor IX gene for the determination of haemophilia B carrier status. Blood 1986; 67: 1508-11.
-
(1986)
Blood
, vol.67
, pp. 1508-1511
-
-
Hay, C.W.1
Robertson, K.A.2
Yong, S.L.3
Thompson, A.R.4
Growe, G.H.5
MacGillivray, R.T.A.6
-
24
-
-
0027207410
-
An Msel RFLP in the 5′ flanking region of the factor IX gene: Its use for haemophilia B carrier detection in Caucasian and Thai populations
-
Winship PR, Nichols CE, Chuansumrit A, Peake IR. An Msel RFLP in the 5′ flanking region of the factor IX gene: Its use for haemophilia B carrier detection in Caucasian and Thai populations. Br J Haematol 1993; 84: 101-5.
-
(1993)
Br J Haematol
, vol.84
, pp. 101-105
-
-
Winship, P.R.1
Nichols, C.E.2
Chuansumrit, A.3
Peake, I.R.4
-
25
-
-
0021926211
-
Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX
-
McGraw RA, Davis LM, Noyes CM, Lundblat RL, Roberts HR, Graham JB, Nedellec J. Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX. Proc Natl Acad Sci USA 1985; 82: 2847-51.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 2847-2851
-
-
McGraw, R.A.1
Davis, L.M.2
Noyes, C.M.3
Lundblat, R.L.4
Roberts, H.R.5
Graham, J.B.6
Nedellec, J.7
-
26
-
-
0026535384
-
Registry of DNA polymorphisms within or close to the human factor VIII and factor IX genes - For the Factor VIII/IX Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
-
Peake I. Registry of DNA polymorphisms within or close to the human factor VIII and factor IX genes - For the Factor VIII/IX Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1992; 67: 277-80.
-
(1992)
Thromb Haemost
, vol.67
, pp. 277-280
-
-
Peake, I.1
-
27
-
-
0027351077
-
Haemophilia: Strategies for carrier detection and prenatal diagnosis
-
Peake IR, Lillicrap DP, Boulyjenkov V, Briet E, Chan V, Ginter EK, Kraus EM, et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. Bulletin of the World Health Organization 1993; 71: 429-58.
-
(1993)
Bulletin of the World Health Organization
, vol.71
, pp. 429-458
-
-
Peake, I.R.1
Lillicrap, D.P.2
Boulyjenkov, V.3
Briet, E.4
Chan, V.5
Ginter, E.K.6
Kraus, E.M.7
-
28
-
-
0025950099
-
The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups
-
Graham JB, Kunkel GR, Egilmez NK, Wallmark A, Fowlkes DM, Lord ST. The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups. Am J Hum Genet 1991; 49: 537-44.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 537-544
-
-
Graham, J.B.1
Kunkel, G.R.2
Egilmez, N.K.3
Wallmark, A.4
Fowlkes, D.M.5
Lord, S.T.6
-
29
-
-
0026063167
-
Molecular defects in haemophilia B: Detection by direct restriction enzyme analysis
-
Chan V, Yip B, Tong TMF, Chan TPT, Lau K, Yam I, Chan TK. Molecular defects in haemophilia B: Detection by direct restriction enzyme analysis. Br J Haematol 1991; 79: 63-9.
-
(1991)
Br J Haematol
, vol.79
, pp. 63-69
-
-
Chan, V.1
Yip, B.2
Tong, T.M.F.3
Chan, T.P.T.4
Lau, K.5
Yam, I.6
Chan, T.K.7
-
30
-
-
0024605060
-
Direct detection of point mutations by mismatch analysis: Application to haemophilia B
-
Montandon AJ, Green PM, Giannelli F, Bentley DR. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res 1989; 17: 3347-58.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 3347-3358
-
-
Montandon, A.J.1
Green, P.M.2
Giannelli, F.3
Bentley, D.R.4
-
32
-
-
0027474512
-
Propeptide processing during factor DC biosynthesis. Effect of point mutations adjacent to the propeptide cleavage site
-
Bristol JA, Furie BC, Furie B. Propeptide processing during factor DC biosynthesis. Effect of point mutations adjacent to the propeptide cleavage site. J Biol Chem 1993; 268: 7577-84.
-
(1993)
J Biol Chem
, vol.268
, pp. 7577-7584
-
-
Bristol, J.A.1
Furie, B.C.2
Furie, B.3
-
34
-
-
0030997346
-
Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors
-
Snyder RO, Miao CH, Patijn GA, Spratt SK, Danos O, Nagy D, Gown AM, et al. Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors. Nat Genet 1997; 16: 270-6.
-
(1997)
Nat Genet
, vol.16
, pp. 270-276
-
-
Snyder, R.O.1
Miao, C.H.2
Patijn, G.A.3
Spratt, S.K.4
Danos, O.5
Nagy, D.6
Gown, A.M.7
-
35
-
-
0030902985
-
Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus
-
Herzog RW, Hagstrom JN, Kung SH, Tai SJ, Wilson JM, Fisher KJ, High KA. Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus. Proc Natl Acad Sci USA 1997; 94: 5804-9.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 5804-5809
-
-
Herzog, R.W.1
Hagstrom, J.N.2
Kung, S.H.3
Tai, S.J.4
Wilson, J.M.5
Fisher, K.J.6
High, K.A.7
-
36
-
-
0025292828
-
Haemophilia B: Database of point mutations and short additions and deletions
-
Giannelli F, Green PM, High KA, Lozier JN, Lillicrap DP, Ludwig M, Olek K, et al. Haemophilia B: Database of point mutations and short additions and deletions. Nucleic Acids Res 1990; 18: 4053-4059.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 4053-4059
-
-
Giannelli, F.1
Green, P.M.2
High, K.A.3
Lozier, J.N.4
Lillicrap, D.P.5
Ludwig, M.6
Olek, K.7
-
37
-
-
0030844859
-
Haemophilia B: Database of point mutations and short additions and deletions
-
7th edition
-
Giannelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab R, Reitsma PH, et al. Haemophilia B: database of point mutations and short additions and deletions, 7th edition. Nucleic Acids Res 1997; 25: 133-5.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 133-135
-
-
Giannelli, F.1
Green, P.M.2
Sommer, S.S.3
Poon, M.C.4
Ludwig, M.5
Schwaab, R.6
Reitsma, P.H.7
-
41
-
-
0029552960
-
Factor IX: Molecular structure, epitopes, and mutations associated with inhibitor formation
-
High KA. Factor IX: molecular structure, epitopes, and mutations associated with inhibitor formation. Adv Exp Med Biol 1995; 386: 79-86.
-
(1995)
Adv Exp Med Biol
, vol.386
, pp. 79-86
-
-
High, K.A.1
-
42
-
-
0026664109
-
Direct estimate of the haemophilia B (factor DC deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
-
Montandon AJ, Green PM, Bentley DR, Ljung R, Kling S, Nilsson IM, Giannelli F. Direct estimate of the haemophilia B (factor DC deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden. Hum Genet 1992; 89: 319-22.
-
(1992)
Hum Genet
, vol.89
, pp. 319-322
-
-
Montandon, A.J.1
Green, P.M.2
Bentley, D.R.3
Ljung, R.4
Kling, S.5
Nilsson, I.M.6
Giannelli, F.7
-
43
-
-
0026549848
-
Origin of mutation in sporadic cases of haemophilia-B
-
Kling S, Ljung R, Sjorin E, Montandon J, Green P, Giannelli F, Nilsson IM. Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol 1992; 48: 142-5.
-
(1992)
Eur J Haematol
, vol.48
, pp. 142-145
-
-
Kling, S.1
Ljung, R.2
Sjorin, E.3
Montandon, J.4
Green, P.5
Giannelli, F.6
Nilsson, I.M.7
-
44
-
-
0025960560
-
Somatic mosaicism and female to female transmission in a kindred with hemophilia B (factor IX deficiency)
-
Taylor SAM, Deugau KV, Lillicrap DP. Somatic mosaicism and female to female transmission in a kindred with hemophilia B (factor IX deficiency). Proc Natl Acad Sci USA 1991; 88: 39-42.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 39-42
-
-
Taylor, S.A.M.1
Deugau, K.V.2
Lillicrap, D.P.3
-
45
-
-
0020050283
-
Hemophilia B Leyden: A sex linked hereditary disorder that improves after puberty
-
Briet E, Bertina RM, Van Tilburg NH, Veltkamp JJ. Hemophilia B Leyden: A sex linked hereditary disorder that improves after puberty. N Engl J Med 1982; 306: 788-92.
-
(1982)
N Engl J Med
, vol.306
, pp. 788-792
-
-
Briet, E.1
Bertina, R.M.2
Van Tilburg, N.H.3
Veltkamp, J.J.4
-
46
-
-
0027318851
-
Age-dependent effect on the level of factor IX
-
Sweeney JD, Hoernig LA. Age-dependent effect on the level of factor IX. Am J Clin Pathol 1993; 99: 687-8.
-
(1993)
Am J Clin Pathol
, vol.99
, pp. 687-688
-
-
Sweeney, J.D.1
Hoernig, L.A.2
-
47
-
-
0026792857
-
Maturation of the hemostatic system during childhood
-
Andrew M, Vegh P, Johnston M, Bowker J, Ofosu F, Mitchell L. Maturation of the hemostatic system during childhood. Blood 1992; 80: 1998-2005.
-
(1992)
Blood
, vol.80
, pp. 1998-2005
-
-
Andrew, M.1
Vegh, P.2
Johnston, M.3
Bowker, J.4
Ofosu, F.5
Mitchell, L.6
-
48
-
-
0007686099
-
The inheritance of Christmas factor
-
Simpson NE, Biggs R. The inheritance of Christmas factor. Br J Haematol. 1962; 8: 191-203.
-
(1962)
Br J Haematol.
, vol.8
, pp. 191-203
-
-
Simpson, N.E.1
Biggs, R.2
-
49
-
-
0025286228
-
Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B
-
Crossley M, Brownlee GG. Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Nature 1990; 345: 444-6.
-
(1990)
Nature
, vol.345
, pp. 444-446
-
-
Crossley, M.1
Brownlee, G.G.2
-
50
-
-
0026747855
-
Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden
-
Reijnen MJ, Sladek FM, Bertina RM, Reitsma PH. Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden. Proc Natl Acad Sci USA 1992; 89: 6300-3.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6300-6303
-
-
Reijnen, M.J.1
Sladek, F.M.2
Bertina, R.M.3
Reitsma, P.H.4
-
51
-
-
0030067692
-
Transcriptional regulation of the human factor IX promoter by the orphan receptor super-family factor, HNF4, ARP1 and COUP/Ear3
-
Naka H, Brownlee GG. Transcriptional regulation of the human factor IX promoter by the orphan receptor super-family factor, HNF4, ARP1 and COUP/Ear3. Br J Haematol 1996; 92: 231-40.
-
(1996)
Br J Haematol
, vol.92
, pp. 231-240
-
-
Naka, H.1
Brownlee, G.G.2
-
52
-
-
0027175969
-
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: Consequences for genetic counseling
-
Vidaud D, Tartary M, Costa J-M, Bahnak BR, GispertSanchez S, Fressinaud E, Gazengel C, et al. Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: Consequences for genetic counseling. Hum Genet 1993; 91: 241-4.
-
(1993)
Hum Genet
, vol.91
, pp. 241-244
-
-
Vidaud, D.1
Tartary, M.2
Costa, J.-M.3
Bahnak, B.R.4
Gispert-Sanchez, S.5
Fressinaud, E.6
Gazengel, C.7
-
53
-
-
0022254509
-
The prophylactic treatment of hemophilia B Leyden with anabolic steroids
-
Briet E, Wijnands MC, Veltkamp JJ. The prophylactic treatment of hemophilia B Leyden with anabolic steroids. Ann Int Med 1985; 103:225-6.
-
(1985)
Ann Int Med
, vol.103
, pp. 225-226
-
-
Briet, E.1
Wijnands, M.C.2
Veltkamp, J.J.3
-
54
-
-
0026767136
-
Recovery from hemophilia B Leyden: An androgen-responsive element in the factor IX promoter
-
Crossley M, Ludwig M, Stowell KM, De Vos P, Olek K, Brownlee GG. Recovery from hemophilia B Leyden: An androgen-responsive element in the factor IX promoter. Science 1992; 257: 377-9.
-
(1992)
Science
, vol.257
, pp. 377-379
-
-
Crossley, M.1
Ludwig, M.2
Stowell, K.M.3
De Vos, P.4
Olek, K.5
Brownlee, G.G.6
-
55
-
-
0030742740
-
Further evidence for the importance of an androgen response element in the factor IX promoter
-
Morgan GE, Rowley G, Green PM, Chisholm M, Giannelli F, Brownlee GG. Further evidence for the importance of an androgen response element in the factor IX promoter. Br J Haematol 1997; 98: 79-85.
-
(1997)
Br J Haematol
, vol.98
, pp. 79-85
-
-
Morgan, G.E.1
Rowley, G.2
Green, P.M.3
Chisholm, M.4
Giannelli, F.5
Brownlee, G.G.6
-
56
-
-
0027479495
-
Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation
-
Picketts DJ, Lillicrap DP, Mueller CR. Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nature Genet 1993; 3: 175-9.
-
(1993)
Nature Genet
, vol.3
, pp. 175-179
-
-
Picketts, D.J.1
Lillicrap, D.P.2
Mueller, C.R.3
-
57
-
-
0028801352
-
X-ray structure of clotting factor IXa: Active site and module structure related to Xase activity and hemophilia B
-
Brandstetter H, Bauer M, Huber R, Lollar P, Bode W. X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B. Proc Natl Acad Sci USA 1995; 92: 9796-800.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 9796-9800
-
-
Brandstetter, H.1
Bauer, M.2
Huber, R.3
Lollar, P.4
Bode, W.5
-
58
-
-
0029839951
-
A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism
-
Chu K, Wu SM, Stanley T, Stafford DW, High KA. A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism. J Clin Invest 1996; 98: 1619-25.
-
(1996)
J Clin Invest
, vol.98
, pp. 1619-1625
-
-
Chu, K.1
Wu, S.M.2
Stanley, T.3
Stafford, D.W.4
High, K.A.5
-
59
-
-
8544283812
-
Missense mutations at ALA-10 in the factor IX propeptide: An insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy
-
Oldenburg J, Quenzel EM, Harbrecht U, Fregin A, Kress W, Muller CR, Hertfelder HJ, et al. Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy. Br J Haematol 1997; 98: 240-4.
-
(1997)
Br J Haematol
, vol.98
, pp. 240-244
-
-
Oldenburg, J.1
Quenzel, E.M.2
Harbrecht, U.3
Fregin, A.4
Kress, W.5
Muller, C.R.6
Hertfelder, H.J.7
-
60
-
-
0027528498
-
Factor VIII inhibitors: A continuing problem
-
Hoyer LW. Factor VIII inhibitors: A continuing problem. J Lab Clin Med 1993; 121: 385-7.
-
(1993)
J Lab Clin Med
, vol.121
, pp. 385-387
-
-
Hoyer, L.W.1
-
61
-
-
0015993844
-
Jaundice and antibodies directed against factors 8 and 9 in patients treated for haemophilia or Christmas disease in the United Kingdom
-
Biggs R. Jaundice and antibodies directed against factors 8 and 9 in patients treated for haemophilia or Christmas disease in the United Kingdom. Br J Haematol 1974; 26: 313-29.
-
(1974)
Br J Haematol
, vol.26
, pp. 313-329
-
-
Biggs, R.1
-
62
-
-
0026622961
-
Prevalence of inhibitors in a population of 3435 hemophilia patients in France. French Hemophilia Study Group
-
Sultan Y. Prevalence of inhibitors in a population of 3435 hemophilia patients in France. French Hemophilia Study Group. Thromb Haemost 1992; 67: 600-2.
-
(1992)
Thromb Haemost
, vol.67
, pp. 600-602
-
-
Sultan, Y.1
-
63
-
-
0002668790
-
Factor IX inhibitors in haemophilia B patients: Their incidence and prospects for development with high purity factor IX products
-
Briet E. Factor IX inhibitors in haemophilia B patients: their incidence and prospects for development with high purity factor IX products. Blood Coag Fibrin 1991; 2: 47-50.
-
(1991)
Blood Coag Fibrin
, vol.2
, pp. 47-50
-
-
Briet, E.1
-
64
-
-
0027257566
-
Frequency of inhibitor development in haemophiliacs treated with low-purity factor VIII
-
Addiego J, Kasper C, Abildgaard C, Hilgartner M, Lusher J, Glader B, Aledort L. Frequency of inhibitor development in haemophiliacs treated with low-purity factor VIII. Lancet 1993; 342: 462-4.
-
(1993)
Lancet
, vol.342
, pp. 462-464
-
-
Addiego, J.1
Kasper, C.2
Abildgaard, C.3
Hilgartner, M.4
Lusher, J.5
Glader, B.6
Aledort, L.7
-
65
-
-
0027394923
-
A sudden increase in factor VIII inhibitor development in multitransfused hemophilia a patients in the Netherlands
-
Rosendaal FR, Nieuwenhuis HK, Van den Berg HM, Heijboer H, Mauser-Bunschoten EP, Van der Meer J, Smit C, et al. A sudden increase in factor VIII inhibitor development in multitransfused hemophilia A patients in The Netherlands. Blood 1993; 81: 2180-6.
-
(1993)
Blood
, vol.81
, pp. 2180-2186
-
-
Rosendaal, F.R.1
Nieuwenhuis, H.K.2
Van Den Berg, H.M.3
Heijboer, H.4
Mauser-Bunschoten, E.P.5
Van Der Meer, J.6
Smit, C.7
-
66
-
-
0027473752
-
Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A. Safety, efficacy, and development of inhibitors. Kogenate Previously Untreated Patient Study Group
-
Lusher JM, Arkin S, Abildgaard CF, Schwartz RS. Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A. Safety, efficacy, and development of inhibitors. Kogenate Previously Untreated Patient Study Group. N Engl J Med 1993; 328: 453-59.
-
(1993)
N Engl J Med
, vol.328
, pp. 453-459
-
-
Lusher, J.M.1
Arkin, S.2
Abildgaard, C.F.3
Schwartz, R.S.4
-
67
-
-
0026548917
-
Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs
-
Ehrenforth S, Kreuz W, Scharrer I, Linde R, Funk M, Güngör T, Krackhardt B, et al. Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs. Lancet 1992; 339: 594-8.
-
(1992)
Lancet
, vol.339
, pp. 594-598
-
-
Ehrenforth, S.1
Kreuz, W.2
Scharrer, I.3
Linde, R.4
Funk, M.5
Güngör, T.6
Krackhardt, B.7
-
68
-
-
0020526790
-
Gene deletions in patients with haemophilia B and anti-factor IX antibodies
-
Giannelli F, Choo KH, Rees DJG, Boyd Y, Rizza CR, Brownlee GG. Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature 1983; 303: 181-2.
-
(1983)
Nature
, vol.303
, pp. 181-182
-
-
Giannelli, F.1
Choo, K.H.2
Rees, D.J.G.3
Boyd, Y.4
Rizza, C.R.5
Brownlee, G.G.6
-
69
-
-
0023099698
-
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients
-
Matthews RJ, Anson DS, Peake IR, Bloom AL. Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. J Clin Invest 1987; 79: 746-53.
-
(1987)
J Clin Invest
, vol.79
, pp. 746-753
-
-
Matthews, R.J.1
Anson, D.S.2
Peake, I.R.3
Bloom, A.L.4
-
70
-
-
18844473466
-
Factor IX inhibitors and anaphylaxis in hemophilia B
-
Warrier I, Ewenstein BM, Koerper MA, Shapiro A, Key N, DiMichele D, Miller RT, et al. Factor IX inhibitors and anaphylaxis in hemophilia B. J Ped Hematol/Onc 1997; 19: 23-7.
-
(1997)
J Ped Hematol/Onc
, vol.19
, pp. 23-27
-
-
Warrier, I.1
Ewenstein, B.M.2
Koerper, M.A.3
Shapiro, A.4
Key, N.5
DiMichele, D.6
Miller, R.T.7
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