References
- Alter BP. Inherited bone marrow failure syndromes. In: Handin RI, Stossel TP, Lux SE, Eds. Blood: Principles and Practice of Hematology. Philadelphia: JB Lippincott. 1995: 227-291.
- Bagby GC, Lipton JM, Sloand EM, Schiffer CA. Marrow failure. Hematology Am Soc Hematol Educ Program. 2004: 318-336.
- Moldovan GL, D'Andrea AD. How the Fanconi anemia pathway guards the genome. Annu Rev Genet. 2009; 43: 223-249.
- Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet. 2007; 8(10): 735-748.
- Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010; 42(5): 406-409.
- Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet. 2011; 43(2): 138-141.
- Dallapiccola B, Porfirio B, Mokini V, Alimena G, Isacchi G., Gandini E. Effect of oxidants and antioxidants on chromosomal breakage in Fanconi's anemia lymphocytes. Hum Genet. 1985; 69(1): 62-65.
- Joenje H, Eriksson AW, Frants RR, Arwert F, Houwen B. Erythrocyte superoxide dismutase deficiency in Fanconi's anemia. Nature. 1978; 290(8057): 142-143.
- Schindler D, Hoehn H. Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am J Hum Genet. 1988; 43(4): 429-435.
- Petrovic S, Leskovac A, Kotur-Stevuljevic J, Joksic I, Guc-Scekic M, Vujic D, Joksic G. Gender-related differences in the oxidant state of cells in Fanconi anemia heterozygotes. Biol Chem. 2011; 392(7): 625-632.
- Auerbach AD. A test for Fanconi's anemia. Blood. 1988; 72(1): 366-367.
- Auerbach AD. Diagnosis of Fanconi anemia by diepoxybutane analysis. In: Dracopoli NC, Ed. Short Protocols in Human Genetics: a Compendium of Methods From Current Protocols in Human Genetics. Hoboken: J. Wiley. 2004: 31-37.
- Sasaki MS, Tonomura A. A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross linking agents. Cancer Res. 1973; 33(8): 1829-1836.
- Wegner R-D, Stumm M. Diagnosis of chromosomal instability syndromes. In: Wegner R-D, Ed. Diagnostic Cytogenetics. Berlin: Springer-Verlag. 1999: 251-268.
- An International System for Cytogenetic Nomenclature (ISCN 2009). In: Schaffer LG, Tommerup N, Eds. Basel: S. Karger, 2009.
- Auerbach AD, Rogatko A, Schroeder-Kurth TM, International Fanconi Anemia Registry. Relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989; 73(2): 391-396.
- Alter BP. Fanconi's anemia and malignancies. Am J Hematol. 1996; 53(2): 99-110.
- Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. Haematologica. 2010; 95(8): 1236-1240.
- Esmer C, Sanchez S, Ramos S, Molina B, Frias S, Carnavale A. DEB test for Fanconi anemia detection in patients with atypical phenotypes. Am J Med Genet. 2004; 124(1): 35-39.
- Liu JM, Buchwald M, Walsh CE, Young NS. Fanconi anemia and novel strategies for therapy. Blood. 1994; 12(84): 3995-4007.
- Najean Y, Pecking A, Le Danvic M. Androgen therapy in aplastic anemia in childhood. A prospective study of 352 cases. Scand J Haematol. 1976; 22(4): 343-356.
- Kook H, Cho D, Cho SH, Hong WP, Kim CJ, Park JY, Yoon WS, Ryang DW, Hwang TJ. Fanconi anemia screening by diepoxybutane and mitomycin C tests in Korean children with bone marrow failure syndromes. J Korean Med Sci. 1998; 13(6): 623-628.
- Cho SH, Kook H, Kim GM, Yoon WS, Cho TH, Hwang TJ. A clinical study of Fanconi's anemia. Korean J Pediatr Hematol Oncol. 1997; 4(1): 70-77.
- Ilgin H, Akarsu AN, Bokesoy FI. Cytogenetic and phenotypic findings in Turkish patients with Fanconi anemia. Tr J Med Sci. 1999; 29(2): 151-154.
- Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socie G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood. 2005; 105(3): 1329-1336.
- Kwee ML, Poll EH, van de Kamp JJ, de Koning H, Eriksson AW, Joenje H. Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia. Hum Genet. 1983; 64(4): 384-387.
- Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet. 1997; 5(3): 137-148.
- Gross M, Hanenberg H, Lobitz S, Friedl R, Herterich S, Dietrich R, Gruhn B, Schindler D, Hoehn H. Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenet Genome Res. 2002; 98(2-3): 126-135.
- Youssoufian H. Natural gene therapy and the Darwinian legacy. Nat Genet. 1996; 13(3): 255-256.
- Castella M, Pujol R, Callén E, Ramírez MJ, Casado JA, Talavera M, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Estella J, Dasí Á, Rodríguez-Villa A, Gómez P, Tapia M, Molinés A, Figuera Á, Bueren JA, Surrallés J. Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact. J Med Genet. 2011; 48(4): 242-250.