Citations for
1F8, F8D
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
Lombardi S, Leo G, Merlin S, Follenzi A, McVey JH, Maestri I, Bernardi F, Pinotti M, Balestra D.
Am J Hum Genet. 1 Aug 5;108(8):1512-1525. doi: 10.1016/j.ajhg.2021.06.012. Epub 2021 Jul 8. 2021
2F8, F8D
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Santacroce R, Leccese A, Trunzo R, Lassandro G, Giordano P, Ettorre C, Antoncecchi S, Cantori I, Dragani A, Belvini D, Salviato R, Margaglione M.
Thromb Res 135(5):1031-4. doi: 10.1016/j.thromres.2015.01.019. No abstract available. 2015
3F8, F8D, VWF
Interaction between VWF and FVIII in treating VWD.
Miesbach W, Berntorp E.
Eur J Haematol 95(5):449-54. doi: 10.1111/ejh.12514. Review. 2015
4F8, F8D
p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.
Bowyer AE, Goodeve A, Liesner R, Mumford AD, Kitchen S, Makris M.
Br J Haematol 154(5):618-25. doi: 10.1111/j.1365-2141.2011.08688.x. Epub 2011 Jul 14. 2011
5F8, F8D
Characterization of duplication breakpoints in the factor VIII gene.
Zimmermann MA, Oldenburg J, Müller CR, Rost S.
J Thromb Haemost 8(12):2696-704. doi: 10.1111/j.1538-7836.2010.04040.x. 2010
6F8, F8D, F9
The factor VIIIa C2 domain (residues 2228-2240) interacts with the factor IXa Gla domain in the factor xase complex.
Soeda T, Nogami K, Nishiya K, Takeyama M, Ogiwara K, Sakata Y, Yoshioka A, Shima M.
J Biol Chem 284(6):3379-88. Epub 2008 Dec 1. 2009
7F8, F8D
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, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M; AICE-Genetics Study Group.
J Hum Genet 53(3):275-84. Epub 2008 Jan 23. 2008
8F8, F8D
Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update.
De Brasi CD, Bowen DJ.
J Thromb Haemost 6(10):1822-4. Epub 2008 Jul 19. Review. No abstract available. 2008
9F8, F8D, VWF
The role of VWF in the immunogenicity of FVIII.
Lacroix-Desmazes S, Repessé Y, Kaveri SV, Dasgupta S.
Thromb Res 122 Suppl 2:S3-6. Review. 2008
10F8, F8D
The protein structure and effect of factor VIII.
Fang H, Wang L, Wang H.
Thromb Res 119(1):1-13. Epub 2006 Feb 17. Review. 2007
11F8, F8D
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL.
Eur J Hum Genet 15(6):628-37. Epub 2007 Mar 7. 2007
12F8, F8D, FUNDC2
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
Sheen CR, Jewell UR, Morris CM, Brennan SO, FŽrec C, George PM, Smith MP, Chen JM.
Hum Mutat 28(12):1198-206. 2007
13F8, F8D, VWF
Haemophilia A: from mutation analysis to new therapies.
Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R.
Nat Rev Genet 6(6):488-501. 2005
14F8, F8D
A Novel Mutation (2409delT) in Exon 14 of the Factor VIII Gene Causes Severe Haemophilia A.
Vidal F, Farssac E, Altisent C, Puig L, Gallardo D.
Hum Hered 50(4):266-267. No abstract available. 2000
15F8, F8A1, F8D
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.
Hum Genet 104(5):435-7. 1999
16F8, F8D
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.
Hum Mol Genet 8(7):1291-301. 1999
17F8, F8D
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.
Proc Natl Acad Sci U S A 96(18):10379-84. 1999
18F8, F8D
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.
Blood 89(12):4371-7. 1997
19F8, F8D
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.
Hum Genet 100(5-6):508-11. 1997
20F8, F8D, FLNA
A compositional map of human chromosome band Xq28.
De Sario A, et al.
Proc Natl Acad Sci U S A 93 : 1298-1302. 1996
21F8, F8D
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.
Am J Hum Genet 58 : 657-670. 1996
22F5TPH, F8, F8D
Moderation of hemophilia A phenotype by the factor V R506Q mutation.
Nichols WC, et al.
Blood 88 : 1183-1187. 1996
23F8, F8D, MTCP1
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.
Hum Mol Genet 5 : 1945-1951. 1996
24F8, F8D
Factor VIII gene inversions in severe hemophilia A : results of an international consortium study.
Antonarakis SE, et al.
Blood 86 : 2206-2212. 1995
25F8A1, F8A2, F8A3, F8D
Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.
Naylor JA, et al.
Hum Mol Genet 4 : 1217-1224. 1995
26F8, F8D
Molecular etiology of factor VIII deficiency in hemophilia A.
Antonarakis SE, et al.
Hum Mutat 5 : 1-22. 1995
A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII Gene.
Bidichandani SI, et al.
Hum Mol Genet 3 : 651-653. 1994
A NlaIII polymorphism within the human factor VII gene.
Chaing SH, et al.
Hum Genet 93 : 722-723. 1994
29F8, F8D
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.
Pratt Rossiter J, et al.
Hum Mol Genet 3 : 1035-1039. 1994
30F8, F8D
A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient.
Murru S, et al.
Genomics 23 : 352-361. 1994
31F8, F8D
Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
Windsor S, et al.
Blood 84 : 2202-2205. 1994
32F8, F8A1, F8D
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
Lakich D, et al.
Nat Genet 5 : 236-241. 1993
33F8, F8D
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.
Naylor J, et al.
Hum Mol Genet 2 : 1773-1778. 1993
34F8, F8D
Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.
Oldenburg J, et al.
Am J Hum Genet 53 : 1229-1238. 1993
35F8, F8D
Severe hemophilia A in a female by cryptic translocation : order and orientation of factor VIII within Xq28.
Migeon BR, et al.
Genomics 16 : 20-25. 1993
36F8, F8D
Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.
McGinniss MJ, et al.
Genomics 15 : 392-398. 1993
37F8, F8D
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
38DXS115, F8, F8D
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
39F8, F8D
Factor VIII gene explains all cases of haemophilia A.
Naylor JA, et al.
Lancet 340 : 1066-1067. 1992
40F8, F8D
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
41F8, F8A1, F8D
Evidence for a third transcript from the human factor VIII gene.
Levinson B, et al.
Genomics 14 : 585-589. 1992
42BRCC3, 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
43F8, F8D
A Taql polymorphism adjacent to the factor VIII gene (F8C).
Kenwrick S, et al.
Nucleic Acids Res 19 : 2513. 1991
44F8, F8D
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
45F8, F8D
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
46F8, F8D
Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.
Millar DS, et al.
Hum Genet 87 : 99-100. 1991
47F8, F8D
Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene.
Lalloz MRA, et al.
Lancet 338 : 207-211. 1991
48F8, F8D
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
Woods-Samuels P, et al.
Genomics 10 : 94-101. 1991
49F8, F8D
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
50F8, F8D
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.
Higuchi M, et al.
Genomics 6 : 65-71. 1990
51F8, F8D
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
52F8, F8D
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
53F8, F8D
Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.
Jedlicka P, et al.
Hum Genet 85 : 315-318. 1990
54F8, F8D
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
55F8, F8D, F9
Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
Winship PR, et al.
Lancet I : 631-634. 1989
56F8, F8D, F9
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
57F8, F8D
Mutations of factor VIII cleavage sites in hemophilia B.
Gitschier J, et al.
Blood 72 : 1022-1028. 1988
58F8, 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
59F8, F8D
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
60DXS15, DXS52, F8, F8D
Haemophilia A, F8C, DXS15 and DXS52 : establishement of order and evidence for a familial predisposition to crossover.
Bhattacharya SS, et al.
(HGM9) Cytogenet Cell Genet 46 : 580. 1987
61F8, 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
62DXS15, 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
63F8, F8D, VWF
RFLPs studies in coagulation FVIII and von Willebrand factors.
Bernardi F, et al.
(HGM9) Cytogenet Cell Genet 46 : 580. 1987
64F8, F8D
A new HindIII restriction fragment length polymorphism in the hemophilia A locus.
Ahrens P, et al.
Hum Genet 76 : 127-128. 1987
65F8, 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
66DXS52, F8, F8D
Recombination within DXS52 (ST14) locus in family with haemophilia A.
Kirk HE, et al.
Lancet I : 560-561. 1987
67DXS102, 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
68F8, 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
69F8, F8D
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
70F8, F8D
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
71F8, F8D
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
72F8, F8D
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.
Youssoufian H, et al.
Nature 324 : 380-382. 1986
73F8, F8D
Carrier testing strategy in haemophilia A.
Janco RL, et al.
Lancet I : 148-149. 1986
74DXS52, 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
75DXS15, 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
76F8, 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
77F8, F8D
Detection and sequence of mutations in the factor VIII gene ofhaemophiliacs.
Gitschier J, et al.
Nature 315 : 427-430. 1985
78F8, F8D
Molecular cloning of a cDNA encoding human antihaemophilic factor.
Toole JJ, et al.
Nature 312 : 342-347. 1984