Genotyp-Phänotyp Korrelation bei Fanconi Anämie - OPUS ...
Genotyp-Phänotyp Korrelation bei Fanconi Anämie - OPUS ...
Genotyp-Phänotyp Korrelation bei Fanconi Anämie - OPUS ...
Erfolgreiche ePaper selbst erstellen
Machen Sie aus Ihren PDF Publikationen ein blätterbares Flipbook mit unserer einzigartigen Google optimierten e-Paper Software.
Literatur<br />
41. Koc A, Pronk JC, Alikasifoglu M, Joenje H, Altay C (1999) Variable<br />
pathogenicity of exon 43del (FAA) in four <strong>Fanconi</strong> anaemia patients within a<br />
consanguineous family. Br J Haematol 104:127-30.<br />
42. Kubbies M, Schindler D, Hoehn H, Schinzel A, Rabinovitch PS (1985)<br />
Endogenous blockage and delay of the chromosome cycle despite normal<br />
recruitment and growth phase explain poor proliferation and frequent<br />
endomitosis in <strong>Fanconi</strong> anemia cells. Am J Hum Genet 37:1022-30<br />
43. Kutler D, Singh B, Satagopan J, Batish S, Berwick M, Giampietro P,<br />
Hanenberg H, Auerbach AD (2003) A 20-year perspective on the<br />
International <strong>Fanconi</strong> Anaemia Registry (IFAR); Blood, 101(4): 1249-1256<br />
44. Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG,<br />
Hoatlin ME, Waisfisz Q, Arwert F, De Winter JP, et al. (2004) Heterogeneity<br />
in <strong>Fanconi</strong> anemia: evidence for 2 new genetic subtypes. Blood, 103(7):<br />
2498-2503<br />
45. Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW,<br />
Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F,<br />
Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H (2005) The<br />
DNA helicase BRIP1 is defective in <strong>Fanconi</strong> anemia complementation group<br />
J. Nat Genet.37(9):934-5. Epub 2005 Aug 21.<br />
46. Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD,<br />
Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H,<br />
Auerbach AD (2005) The BRCA1-interacting helicase BRIP1 is deficient in<br />
<strong>Fanconi</strong> anemia. Nat Genet. 37(9):931-3. Epub 2005 Aug 21.<br />
47. Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC,<br />
Auerbach AD (1997) Sequence variation in the <strong>Fanconi</strong> anemia gene FAA.<br />
Proc Natl Acad Sci USA. 94:13051-13056<br />
48. Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Verman AJP, van<br />
Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E,<br />
Gibson RA, Mathews CG, Arwert F, Joenje H (1997) Somatic mosaicsism in<br />
<strong>Fanconi</strong> Anemia: Molecular basis and clinical significance. Eur J Hum Genet<br />
5:137-148<br />
56