| 1 | F8, F8D
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| Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
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| Lombardi S, Leo G, Merlin S, Follenzi A, McVey JH, Maestri I, Bernardi F, Pinotti M, Balestra D.
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| Am J Hum Genet. 1 Aug 5;108(8):1512-1525. doi: 10.1016/j.ajhg.2021.06.012. Epub 2021 Jul 8. 2021
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| 2 | F8, F8D
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| Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
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| Santacroce R, Leccese A, Trunzo R, Lassandro G, Giordano P, Ettorre C, Antoncecchi S, Cantori I, Dragani A, Belvini D, Salviato R, Margaglione M.
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| Thromb Res 135(5):1031-4. doi: 10.1016/j.thromres.2015.01.019. No abstract available.
2015
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| 3 | F8, F8D, VWF
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| Interaction between VWF and FVIII in treating VWD.
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| Miesbach W, Berntorp E.
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| Eur J Haematol 95(5):449-54. doi: 10.1111/ejh.12514. Review.
2015
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| 4 | F8, F8D
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| p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.
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| Bowyer AE, Goodeve A, Liesner R, Mumford AD, Kitchen S, Makris M.
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| Br J Haematol 154(5):618-25. doi: 10.1111/j.1365-2141.2011.08688.x. Epub 2011 Jul 14.
2011
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| 5 | F8, F8D
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| Characterization of duplication breakpoints in the factor VIII gene.
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| Zimmermann MA, Oldenburg J, Müller CR, Rost S.
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| J Thromb Haemost 8(12):2696-704. doi: 10.1111/j.1538-7836.2010.04040.x.
2010
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| 6 | F8, F8D, F9
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| The factor VIIIa C2 domain (residues 2228-2240) interacts with the factor IXa Gla domain in the factor xase complex.
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| Soeda T, Nogami K, Nishiya K, Takeyama M, Ogiwara K, Sakata Y, Yoshioka A, Shima M.
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| J Biol Chem 284(6):3379-88. Epub 2008 Dec 1.
2009
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| 7 | F8, F8D
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| Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.
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| Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M; AICE-Genetics Study Group.
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| J Hum Genet 53(3):275-84. Epub 2008 Jan 23. 2008
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| 8 | F8, F8D
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| Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update.
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| De Brasi CD, Bowen DJ.
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| J Thromb Haemost 6(10):1822-4. Epub 2008 Jul 19. Review. No abstract available. 2008
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| 9 | F8, F8D, VWF
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| The role of VWF in the immunogenicity of FVIII.
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| Lacroix-Desmazes S, Repessé Y, Kaveri SV, Dasgupta S.
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| Thromb Res 122 Suppl 2:S3-6. Review. 2008
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| 10 | F8, F8D
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| The protein structure and effect of factor VIII.
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| Fang H, Wang L, Wang H.
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| Thromb Res 119(1):1-13. Epub 2006 Feb 17. Review. 2007
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| 11 | F8, F8D
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| Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
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| Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL.
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| Eur J Hum Genet 15(6):628-37. Epub 2007 Mar 7. 2007
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| 12 | F8, F8D, FUNDC2
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| Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
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| Sheen CR, Jewell UR, Morris CM, Brennan SO, FŽrec C, George PM, Smith MP, Chen JM.
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| Hum Mutat 28(12):1198-206. 2007
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| 13 | F8, F8D, VWF
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| Haemophilia A: from mutation analysis to new therapies.
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| Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R.
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| Nat Rev Genet 6(6):488-501. 2005
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| 14 | F8, F8D
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| A Novel Mutation (2409delT) in Exon 14 of the Factor VIII Gene Causes Severe Haemophilia A.
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| Vidal F, Farssac E, Altisent C, Puig L, Gallardo D.
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| Hum Hered 50(4):266-267. No abstract available. 2000
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| 15 | F8, F8A1, F8D
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| A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene.
|
| Tavassoli K, et al.
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| Hum Genet 104(5):435-7. 1999
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| 16 | F8, F8D
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| Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.
|
| Valleix S, et al.
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| Hum Mol Genet 8(7):1291-301. 1999
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| 17 | F8, F8D
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| Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice.
|
| VandenDriessche T, Vanslembrouck V, Goovaerts I, Zwinnen H, Vanderhaeghen ML, Collen D, Chuah MK.
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| Proc Natl Acad Sci U S A 96(18):10379-84. 1999
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| 18 | F8, F8D
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| The missense mutation Arg593 --> Cys is related to antibody formation in a patient with mild hemophilia A.
|
| Fijnvandraat K, Turenhout EA, van den Brink EN, ten Cate JW, van Mourik JA, Peters M, Voorberg J.
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| Blood 89(12):4371-7. 1997
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| 19 | F8, F8D
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| Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
|
| Tavassoli K, Eigel A, Pollmann H, Horst J.
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| Hum Genet 100(5-6):508-11. 1997
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| 20 | F8, F8D, FLNA
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| A compositional map of human chromosome band Xq28.
|
| De Sario A, et al.
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| Proc Natl Acad Sci U S A 93 : 1298-1302. 1996
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| 21 | F8, F8D
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| Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A : family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
|
| Becker J, et al.
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| Am J Hum Genet 58 : 657-670. 1996
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| 22 | F5TPH, F8, F8D
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| Moderation of hemophilia A phenotype by the factor V R506Q mutation.
|
| Nichols WC, et al.
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| Blood 88 : 1183-1187. 1996
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| 23 | F8, F8D, MTCP1
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| Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia.
|
| Brinke A, et al.
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| Hum Mol Genet 5 : 1945-1951. 1996
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| 24 | F8, F8D
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| Factor VIII gene inversions in severe hemophilia A : results of an international consortium study.
|
| Antonarakis SE, et al.
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| Blood 86 : 2206-2212. 1995
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| 25 | F8A1, F8A2, F8A3, F8D
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| Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.
|
| Naylor JA, et al.
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| Hum Mol Genet 4 : 1217-1224. 1995
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| 26 | F8, F8D
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| Molecular etiology of factor VIII deficiency in hemophilia A.
|
| Antonarakis SE, et al.
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| Hum Mutat 5 : 1-22. 1995
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| 27 | F8D
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| A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII Gene.
|
| Bidichandani SI, et al.
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| Hum Mol Genet 3 : 651-653. 1994
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| 28 | F8D
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| A NlaIII polymorphism within the human factor VII gene.
|
| Chaing SH, et al.
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| Hum Genet 93 : 722-723. 1994
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| 29 | F8, F8D
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| Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.
|
| Pratt Rossiter J, et al.
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| Hum Mol Genet 3 : 1035-1039. 1994
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| 30 | F8, F8D
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| A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient.
|
| Murru S, et al.
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| Genomics 23 : 352-361. 1994
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| 31 | F8, F8D
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| Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
|
| Windsor S, et al.
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| Blood 84 : 2202-2205. 1994
|
| 32 | F8, F8A1, F8D
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| Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
|
| Lakich D, et al.
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| Nat Genet 5 : 236-241. 1993
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| 33 | F8, F8D
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| Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.
|
| Naylor J, et al.
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| Hum Mol Genet 2 : 1773-1778. 1993
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| 34 | F8, F8D
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| Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.
|
| Oldenburg J, et al.
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| Am J Hum Genet 53 : 1229-1238. 1993
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| 35 | F8, F8D
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| Severe hemophilia A in a female by cryptic translocation : order and orientation of factor VIII within Xq28.
|
| Migeon BR, et al.
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| Genomics 16 : 20-25. 1993
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| 36 | F8, F8D
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| Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.
|
| McGinniss MJ, et al.
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| Genomics 15 : 392-398. 1993
|
| 37 | F8, F8D
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| Hemophilia A due to mutations that create new N-glycosylation sites.
|
| Aly AM, et al.
|
| Proc Natl Acad Sci U S A 89 : 4933-4937. 1992
|
| 38 | DXS115, F8, F8D
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| A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.
|
| Freije D, et al.
|
| Am J Hum Genet 51 : 66-80. 1992
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| 39 | F8, F8D
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| Factor VIII gene explains all cases of haemophilia A.
|
| Naylor JA, et al.
|
| Lancet 340 : 1066-1067. 1992
|
| 40 | F8, F8D
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| Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.
|
| Reiner AP, et al.
|
| Hum Genet 89 : 88-94. 1992
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| 41 | F8, F8A1, F8D
|
| Evidence for a third transcript from the human factor VIII gene.
|
| Levinson B, et al.
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| Genomics 14 : 585-589. 1992
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| 42 | BRCC3, DXS551E, F8, F8D
|
| Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene.
|
| Kenwrick S, Levinson B, Taylor S, Shapiro A, Gitschier J.
|
| Hum Mol Genet 1(3):179-86. 1992
|
| 43 | F8, F8D
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| A Taql polymorphism adjacent to the factor VIII gene (F8C).
|
| Kenwrick S, et al.
|
| Nucleic Acids Res 19 : 2513. 1991
|
| 44 | F8, F8D
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| Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
|
| Higuchi M, et al.
|
| Proc Natl Acad Sci U S A 88 : 7405-7409. 1991
|
| 45 | F8, F8D
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| Molecular characterization of mild-to-moderate hemophilia A : detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.
|
| Higuchi M, et al.
|
| Proc Natl Acad Sci U S A 88 : 8307-8311. 1991
|
| 46 | F8, F8D
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| Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.
|
| Millar DS, et al.
|
| Hum Genet 87 : 99-100. 1991
|
| 47 | F8, F8D
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| Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene.
|
| Lalloz MRA, et al.
|
| Lancet 338 : 207-211. 1991
|
| 48 | F8, F8D
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| Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
|
| Woods-Samuels P, et al.
|
| Genomics 10 : 94-101. 1991
|
| 49 | F8, F8D
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| Simple and convenient detection of a HindIII polymorphic site in intron 19 of factor VIII using PCR.
|
| Surin VL, et al.
|
| Nucleic Acids Res 18 : 3432. 1990
|
| 50 | F8, F8D
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| Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.
|
| Higuchi M, et al.
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| Genomics 6 : 65-71. 1990
|
| 51 | F8, F8D
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| Mutatiuons and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.
|
| Kogan S, et al.
|
| Proc Natl Acad Sci U S A 87 : 2092-2096. 1990
|
| 52 | F8, F8D
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| The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.
|
| Pattinson JK, et al.
|
| Blood 76 : 2242-2248. 1990
|
| 53 | F8, F8D
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| Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.
|
| Jedlicka P, et al.
|
| Hum Genet 85 : 315-318. 1990
|
| 54 | F8, F8D
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| Accurate prenatal diagnosis with novel polymerase chain reaction primers in a family with sporadic hemophilia A.
|
| Sarkar G, et al.
|
| Obstet Gynecol 74 : 414-417. 1989
|
| 55 | F8, F8D, F9
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| Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
|
| Winship PR, et al.
|
| Lancet I : 631-634. 1989
|
| 56 | F8, F8D, F9
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| The molecular genetics of hemophilia A and B in man: factor VIII and factor IX deficiency.
|
| Antonarakis SE.
|
| Adv Hum Genet 17 : 27-55. 1988
|
| 57 | F8, F8D
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| Mutations of factor VIII cleavage sites in hemophilia B.
|
| Gitschier J, et al.
|
| Blood 72 : 1022-1028. 1988
|
| 58 | F8, F8D
|
| Nonsense and missense mutations in hemophilia A : estimate of the relative mutation rate at CG dinucleotides.
|
| Youssoufian H, et al.
|
| Am J Hum Genet 42 : 718-725. 1988
|
| 59 | F8, F8D
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| Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.
|
| Kazazian HH, et al.
|
| Nature 332 : 164-166. 1988
|
| 60 | DXS15, DXS52, F8, F8D
|
| Haemophilia A, F8C, DXS15 and DXS52 : establishement of order and evidence for a familial predisposition to crossover.
|
| Bhattacharya SS, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 580. 1987
|
| 61 | F8, F8D, FRAXA
|
| Genetic order of Xq27-q28 RFLP markers established in Fra(X) and Hem A families.
|
| Carpenter NJ, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 590. 1987
|
| 62 | DXS15, DXS52, F8, F8D
|
| RFLPs in the coagulation factor VIII C gene (F8C) and at linked probe sites (DXS15 and DXS52) in the normal and hemophilic population of Algeria.
|
| Nafa K, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 666. 1987
|
| 63 | F8, F8D, VWF
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| RFLPs studies in coagulation FVIII and von Willebrand factors.
|
| Bernardi F, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 580. 1987
|
| 64 | F8, F8D
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| A new HindIII restriction fragment length polymorphism in the hemophilia A locus.
|
| Ahrens P, et al.
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| Hum Genet 76 : 127-128. 1987
|
| 65 | F8, F8D
|
| Genotype assignment of haemophilia A by use of intragenic and extragenic restriction fragment length polymorphisms.
|
| Bršcker-Vriends AHJT, et al.
|
| Thromb Haemost 57 : 131-136. 1987
|
| 66 | DXS52, F8, F8D
|
| Recombination within DXS52 (ST14) locus in family with haemophilia A.
|
| Kirk HE, et al.
|
| Lancet I : 560-561. 1987
|
| 67 | DXS102, DXS107, DXS15, DXS51, DXS52, F8, F8D, F9, FRAXA
|
| Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.
|
| Connor JM, et al.
|
| J Med Genet 24 : 14-22. 1987
|
| 68 | F8, F8D
|
| Classic hemophilia in a female with X/17 complex translocation and partial deletion of the long arm of X chromosome (Xq11-q13).
|
| Muneer RS, et al.
|
| Am J Hum Genet 39 : A126. 1986
|
| 69 | F8, F8D
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| Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28 : implications for factor VIII gene segregation analysis.
|
| Tantravahi U, et al.
|
| Cytogenet Cell Genet 42 : 75-79. 1986
|
| 70 | F8, F8D
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| A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.
|
| Wion KL, et al.
|
| Nucleic Acids Res 14 : 4535-4542. 1986
|
| 71 | F8, F8D
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| A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes.
|
| Gilgenkrantz S, et al.
|
| Hum Genet 72 : 157-159. 1986
|
| 72 | F8, F8D
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| Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.
|
| Youssoufian H, et al.
|
| Nature 324 : 380-382. 1986
|
| 73 | F8, F8D
|
| Carrier testing strategy in haemophilia A.
|
| Janco RL, et al.
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| Lancet I : 148-149. 1986
|
| 74 | DXS52, F8, F8D
|
| Genetic screening for hemophilia A (classic hemophilia) with apolymorphic DNA probe.
|
| OberlŽ I, et al.
|
| N Engl J Med 312 : 682-686. 1985
|
| 75 | DXS15, DXS52, F8, F8D, F9
|
| The human genes for hemophilia A and hemophilia B flank the Xchromosome fragile site at Xq27.3.
|
| Purrello M, et al.
|
| EMBO J 4 : 725-729. 1985
|
| 76 | F8, F8D
|
| Genetic mapping and diagnosis of haemophilia A achieved through a BclIpolymorphism in the factor VIII gene.
|
| Gitschier A, et al.
|
| Nature 314 : 738-740. 1985
|
| 77 | F8, F8D
|
| Detection and sequence of mutations in the factor VIII gene ofhaemophiliacs.
|
| Gitschier J, et al.
|
| Nature 315 : 427-430. 1985
|
| 78 | F8, F8D
|
| Molecular cloning of a cDNA encoding human antihaemophilic factor.
|
| Toole JJ, et al.
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| Nature 312 : 342-347. 1984
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