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References

  • 1
    Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 23641.
  • 2
    Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 17738.
  • 3
    Naylor JA, Buck D, Green P, Williamson H, Bentley D, Gianneill F. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 1995; 4: 121724.
  • 4
    Bagnall RD, Giannelli F, Green PM. Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. J Thromb Haemost 2005; 3: 25989.
  • 5
    Bagnall RD, Giannelli F, Green PM. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost 2006; 4: 5918.
  • 6
    Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 16874.
  • 7
    Schroder W, Wehnert M, Herrmann F. Intron 22 of factor VIII gene – a hot spot for structural aberrations causing severe hemophilia A [letter]. Blood 1996; 87: 30678.
  • 8
    Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Varadi A, Tordai A. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 2003; 88: 77884.
  • 9
    Abou-Elew H, Ahmed H, Raslan H, Abdelwahab M, Hammoud R, Mokhtar D, Arnaout H. Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients. Ann Hematol 2011; 90: 57984.
  • 10
    Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 2006; 12: 1522.
  • 11
    Sugihara T, Takahashi I, Kojima T, Okamoto Y, Yamamoto K, Kamiya T, Matsushita T, Saito H. Identification of plasma antibody epitopes and gene abnormalities in Japanese hemophilia A patients with factor VIII inhibitor. Nagoya J Med Sci 2000; 63: 2539.
  • 12
    Kojima T, Tanimoto M, Kamiya T, Obata Y, Takahashi T, Ohno R, Kurachi K, Saito H. Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects. Blood 1987; 69: 34952.
  • 13
    Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92: 14589.
  • 14
    Rossetti L, Radic C, Larripa I, De Brasi C. Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 2008; 6: 8306.
  • 15
    Tsukahara A, Yamada T, Takagi A, Murate T, Matsushita T, Saito H, Kojima T. Compound heterozygosity for two novel mutations in a severe factor XI deficiency. Am J Hematol 2003; 73: 27984.
  • 16
    Rossetti L, Radic C, Abelleyro M, Larripa I, De Brasi C. Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR. Int J Mol Sci 2011; 12: 7271785.
  • 17
    Daley JM, Palmbos PL, Wu D, Wilson TE. Nonhomologous end joining in yeast. Annu Rev Genet 2005; 39: 43151.
  • 18
    Lieber MR, Ma Y, Pannicke U, Schwarz K. The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination. DNA Repair 2004; 3: 81726.
  • 19
    Symington L. Role of RAD52 epistasis group genes in homologous recombination and double-strand break repair. Microbiol Mol Biol Rev 2002; 66: 63070.
  • 20
    Sheen CR, Jewell UR, Morris CM, Brennan SO, Férec C, George PM, Smith MP, Chen J-M. Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat 2007; 28: 1198206.
  • 21
    Lieber MR. The Mechanism of Human Nonhomologous DNA End Joining. J Biol Chem 2008; 283: 15.
  • 22
    Rossiter JP, Young M, Kimberland ML, Hutter P, Ketterling RP, Gitschier J, Horst J, Morris MA, Schaid DJ, de Moerloose P, Sommer SS, Kazazian HH, Antonarakis SE. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 10359.
  • 23
    Mühle C, Schulz-Drost S, Khrenov AV, Saenko EL, Klinge J, Schneider H. Epitope mapping of polyclonal clotting factor VIII-inhibitory antibodies using phage display. Thromb Haemost 2004; 91: 61925.
  • 24
    Mühle C, Zenker M, Chuzhanova N, Schneider H. Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A. Hum Mutat 2007; 28: 1045.
  • 25
    Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet 2011; 88: 71828.