Page 92 - 2020_07-Haematologica-web

O.Steinberg-Shemer et al.
12. Rosenberg PS, Alter BP, Ebell W. Cancer
risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica. 2008;93(4):511-517.
13. Tamary H, Bar-Yam R, Shalmon L, et al. Fanconi anaemia group A (FANCA) muta- tions in Israeli non-Ashkenazi Jewish patients. Br J Haematol. 2000;111(1):338- 343.
14. Tamary H, Dgany O, Toledano H, et al. Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs. Eur J Haematol. 2004;72(5):330-335.
15. Tamary H, Nishri D, Yacobovich J, et al. Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica. 2010;95(8):1300-1307.
16. Svahn J, Bagnasco F, Cappelli E, et al. Somatic, hematologic phenotype, long- term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology- Oncology). Am Journal Hematol. 2016;91(7):666-671.
17. Kutler DI, Singh B, Satagopan J, et al. A 20- year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101(4):1249-1256.
18. Malric A, Defachelles AS, Leblanc T, et al. Fanconi anemia and solid malignancies in childhood: a national retrospective study. Pediatr Blood Cancer. 2015;62(3):463-470.
19. Risitano AM, Marotta S, Calzone R,
Grimaldi F, Zatterale A. Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned. Haematologica. 2016;101(3):319-327.
20. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30-39.
tions. J Med Genet. 2011;48(9):618-628. 28. Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Hum Mutat.
2004;24(6):481-490.
29. Levran O, Diotti R, Pujara K, Batish SD,
Hanenberg H, Auerbach AD. Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. Hum Mutat. 2005;25(2):142-
21. Rosenberg PS, Socie G, Alter BP, Gluckman
E. Risk of head and neck squamous cell
cancer and death in patients with Fanconi
anemia who did and did not receive trans- 149.
plants. Blood. 2005;105(1):67-73.
22. Kee Y, D'Andrea AD. Molecular pathogene- sis and clinical management of Fanconi ane-
mia. J Clin Invest. 2012;122(11):3799-3806. 23. Wegman-Ostrosky T, Savage SA. The genomics of inherited bone marrow failure: from mechanism to the clinic. Br J
Haematol. 2017;177(4):526-542.
24. Kutler DI, Auerbach AD. Fanconi anemia in
30. Ameziane N, Errami A, Leveille F, et al. Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Hum Mutat. 2008;29(1):159-166.
31. Chandrasekharappa SC, Lach FP, Kimble DC, et al. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood. 2013;121(22):e138-
Ashkenazi Jews. Fam Cancer. 2004;3(3- 148.
4):241-248.
25. Levran O, Erlich T, Magdalena N, et al.
Sequence variation in the Fanconi anemia geneFAA.ProcNatlAcadSciUSA. 1997;94(24):13051-13056.
26. Chen F, Peng GJ, Zhang K, Hu Q, Zhang LQ, Liu AG. [FANCA gene mutation analy- sis in Fanconi anemia patients]. Zhonghua Xue Ye Xue Za Zhi. 2005;26(10):616-618.
27. Tsangaris E, Klaassen R, Fernandez CV, et al. Genetic analysis of inherited bone mar- row failure syndromes from one prospec- tive, comprehensive and population-based cohort and identification of novel muta-
32. Demuth I, Wlodarski M, Tipping AJ, et al. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000;8(11):861-868.
33. Guo M, Vidhyasagar V, Ding H, Wu Y. Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J pro- tein (FANCJ) patient mutations. J Biol Chem. 2014;289(15):10551-10565.
34. Kim H, Cho DY, Choi DH, et al. Analysis of BRIP1 variants among Korean patients with BRCA1/2 mutation-negative high-risk breast cancer. Cancer Res Treat. 2016; 48(3):955-961.
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