-
1
-
-
0035077234
-
Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis
-
White GC 2nd, Rosendaal F, Aledort LM, et al. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001;85:560.
-
(2001)
Thromb Haemost
, vol.85
, pp. 560
-
-
White II, G.C.1
Rosendaal, F.2
Aledort, L.M.3
-
2
-
-
0021040407
-
Regional localization of the human factor IX gene by molecular hybridization
-
Chance PF, Dyer KA, Kurachi K, et al. Regional localization of the human factor IX gene by molecular hybridization. Human Genet 1983;65:207-208.
-
(1983)
Human Genet
, vol.65
, pp. 207-208
-
-
Chance, P.F.1
Dyer, K.A.2
Kurachi, K.3
-
5
-
-
0030062131
-
Prevalence of factor IX inhibitors among patients with haemophilia B: Results of a large-scale North American survey
-
Katz J. Prevalence of factor IX inhibitors among patients with haemophilia B: Results of a large-scale North American survey. Haemophilia 1996;2:28-31.
-
(1996)
Haemophilia
, vol.2
, pp. 28-31
-
-
Katz, J.1
-
6
-
-
84872241332
-
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B
-
Radic CP, Rossetti LC, Abelleyro MM, et al. Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B. Thromb Haemost 2013;109:24-33.
-
(2013)
Thromb Haemost
, vol.109
, pp. 24-33
-
-
Radic, C.P.1
Rossetti, L.C.2
Abelleyro, M.M.3
-
7
-
-
6544277992
-
Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk
-
Thorland EC, Drost JB, Lusher JM, et al. Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk. Haemophilia 1999;5:101-105.
-
(1999)
Haemophilia
, vol.5
, pp. 101-105
-
-
Thorland, E.C.1
Drost, J.B.2
Lusher, J.M.3
-
8
-
-
69949092766
-
Inhibitors in factor IX deficiency a report of the ISTH-SSC international FIX inhibitor registry (1997-2006)
-
Chitlur M, Warrier I, Rajpurkar M, et al. Inhibitors in factor IX deficiency a report of the ISTH-SSC international FIX inhibitor registry (1997-2006). Haemophilia 2009;15:1027-1031.
-
(2009)
Haemophilia
, vol.15
, pp. 1027-1031
-
-
Chitlur, M.1
Warrier, I.2
Rajpurkar, M.3
-
10
-
-
84880409661
-
An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B
-
Rallapalli PM, Kemball-Cook G, Tuddenham EG, et al. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. J Thromb Haemost 2013;11:1329-1340.
-
(2013)
J Thromb Haemost
, vol.11
, pp. 1329-1340
-
-
Rallapalli, P.M.1
Kemball-Cook, G.2
Tuddenham, E.G.3
-
11
-
-
84897468731
-
The CDC Hemophilia B mutation project mutation list: a new online resource
-
doi:10.1002/mgg3.30.
-
Li T, Miller CH, Payne AB, et al. The CDC Hemophilia B mutation project mutation list: a new online resource. Mol Genet Genomic Med 2013;doi:10.1002/mgg3.30.
-
(2013)
Mol Genet Genomic Med
-
-
Li, T.1
Miller, C.H.2
Payne, A.B.3
-
12
-
-
0036164276
-
Haemophilia A and haemophilia B: molecular insights
-
Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Mol Pathol 2002;55:1-18.
-
(2002)
Mol Pathol
, vol.55
, pp. 1-18
-
-
Bowen, D.J.1
-
13
-
-
0024422166
-
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG
-
Koeberl DD, Bottema CD, Buerstedde JM, et al. Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Human Genet 1989;45:448-457.
-
(1989)
Am J Human Genet
, vol.45
, pp. 448-457
-
-
Koeberl, D.D.1
Bottema, C.D.2
Buerstedde, J.M.3
-
14
-
-
0025166340
-
"Founder" effect in different families with haemophilia B mutation
-
Thompson AR, Bajaj SP, Chen SH, et al. "Founder" effect in different families with haemophilia B mutation. Lancet 1990;335:418.
-
(1990)
Lancet
, vol.335
, pp. 418
-
-
Thompson, A.R.1
Bajaj, S.P.2
Chen, S.H.3
-
15
-
-
0029790560
-
The factor IX gene as a model for analysis of human germline mutations: an update
-
5 Spec No:1505-1514.
-
Sommer SS, Ketterling RP. The factor IX gene as a model for analysis of human germline mutations: an update. Human Mol Genet 1996;5 Spec No:1505-1514.
-
(1996)
Human Mol Genet
-
-
Sommer, S.S.1
Ketterling, R.P.2
-
16
-
-
20344372906
-
Molecular genotyping of the Italian cohort of patients with hemophilia B
-
Belvini D, Salviato R, Radossi P, et al. Molecular genotyping of the Italian cohort of patients with hemophilia B. Haematologica 2005;90:635-642.
-
(2005)
Haematologica
, vol.90
, pp. 635-642
-
-
Belvini, D.1
Salviato, R.2
Radossi, P.3
-
17
-
-
33645961280
-
Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
-
Bicocchi MP, Pasino M, Rosano C, et al. Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B. Haemophilia 2006;12:263-270.
-
(2006)
Haemophilia
, vol.12
, pp. 263-270
-
-
Bicocchi, M.P.1
Pasino, M.2
Rosano, C.3
-
18
-
-
47649108641
-
Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect
-
Jenkins PV, Egan H, Keenan C, et al. Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect. Haemophilia 2008;14:717-722.
-
(2008)
Haemophilia
, vol.14
, pp. 717-722
-
-
Jenkins, P.V.1
Egan, H.2
Keenan, C.3
-
19
-
-
84863647389
-
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
-
Yu T, Dai J, Liu H, et al. Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. Pathology 2012;44:342-347.
-
(2012)
Pathology
, vol.44
, pp. 342-347
-
-
Yu, T.1
Dai, J.2
Liu, H.3
-
20
-
-
84871000117
-
US Hemophilia Treatment Center population trends 1990-2010: patient diagnoses, demographics, health services utilization
-
Baker JR, Riske B, Drake JH, et al. US Hemophilia Treatment Center population trends 1990-2010: patient diagnoses, demographics, health services utilization. Haemophilia 2013;19:21-26.
-
(2013)
Haemophilia
, vol.19
, pp. 21-26
-
-
Baker, J.R.1
Riske, B.2
Drake, J.H.3
-
21
-
-
84860334450
-
F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
-
Miller CH, Benson J, Ellingsen D, et al. F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia 2012;18:375-382.
-
(2012)
Haemophilia
, vol.18
, pp. 375-382
-
-
Miller, C.H.1
Benson, J.2
Ellingsen, D.3
-
22
-
-
77949453184
-
The universal data collection surveillance system for rare bleeding disorders
-
Soucie JM, McAlister S, McClellan A, et al. The universal data collection surveillance system for rare bleeding disorders. Am J Prev Med 2010;38:S475-S481.
-
(2010)
Am J Prev Med
, vol.38
-
-
Soucie, J.M.1
Mcalister, S.2
Mcclellan, A.3
-
23
-
-
0022257323
-
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
-
Yoshitake S, Schach BG, Foster DC, et al. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985;24:3736-3750.
-
(1985)
Biochemistry
, vol.24
, pp. 3736-3750
-
-
Yoshitake, S.1
Schach, B.G.2
Foster, D.C.3
-
24
-
-
0023784942
-
The putative factor IX gene promoter in hemophilia B Leyden
-
Reitsma PH, Bertina RM, Ploos van Amstel JK, et al. The putative factor IX gene promoter in hemophilia B Leyden. Blood 1988;72:1074-1076.
-
(1988)
Blood
, vol.72
, pp. 1074-1076
-
-
Reitsma, P.H.1
Bertina, R.M.2
Ploos van Amstel, J.K.3
-
25
-
-
80052964856
-
Understanding the contribution of synonymous mutations to human disease
-
Sauna ZE, Kimchi-Sarfaty C. Understanding the contribution of synonymous mutations to human disease. Nat Rev Genet 2011;12:683-691.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 683-691
-
-
Sauna, Z.E.1
Kimchi-Sarfaty, C.2
-
26
-
-
0026211963
-
Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States
-
Ketterling RP, Bottema CD, Phillips JA 3rd, et al. Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. Genomics 1991;10:1093-1096.
-
(1991)
Genomics
, vol.10
, pp. 1093-1096
-
-
Ketterling, R.P.1
Bottema, C.D.2
Phillips III, J.A.3
-
27
-
-
0031841277
-
Haemophilia B: database of point mutations-and short additions and deletions-eighth edition
-
Giannelli F, Green PM, Sommer SS, et al. Haemophilia B: database of point mutations-and short additions and deletions-eighth edition. Nucleic Acids Res 1998;26:265-268.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 265-268
-
-
Giannelli, F.1
Green, P.M.2
Sommer, S.S.3
-
28
-
-
0025337460
-
The incidence and distribution of CpG-TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots
-
Green PM, Montandon AJ, Bentley DR, et al. The incidence and distribution of CpG-TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res 1990;18:3227-3231.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3227-3231
-
-
Green, P.M.1
Montandon, A.J.2
Bentley, D.R.3
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