• Alter, B.P. & Young, N.D. (1998) The bone marrow failure syndromes. Hematology of Infancy and Childhood (ed. by D. J.Nathan & S. H. Orkin), p. 301. W.B. Saunders, Philadelphia, USA.
  • Auerbach, A.D. (1993) Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Experimental Haematology, 21, 731733.
  • Auerbach, A.D. (1997) FAA polymorphisms (WWW document). URL,
  • Auerbach, A.D., Buchwald, M. & Joenje, H. (1997) Fanconi anemia. In: Genetic Basis of Human Cancer (ed. by B.Vogelstein & K. W. Kinzler), pp. 317332, McGraw-Hill, New York, USA.
  • Centra, M., Memeo, E., D'apolito, M., Savino, M., Ianzano, L., Notarangelo, A., Liu, J., Doggett, N.A., Zelante, L. & Savoia, A. (1998) Fine exon–intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. Genomics, 51, 463467.DOI: 10.1006/geno.1998.5353
  • De Winter, J.P., Waisfisz, Q., Rooimans, M.A., Van Berkel, C.G., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J.C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M. & Joenje, H. (1998) The Fanconi anaemia group C gene (FANCG) is identical with Xrcc9. Nature Genetics, 20, 281283.
  • De Winter, J.P., Rooimans, M.A., Van Der Weel, L., Van Berkel, C.G., Alon, N., Bosnoyan-Collins, L., De Groot, J., Zhi, Y., Waisfiz, Q., Pronk, J.C., Arwert, F., Mathew, C.G., Scheper, R.J., Hoatlin, M.E., Buchwald, M. & Joenje, H. (2000) The Fanconi anemia gene FANCF encodes a novel protein with homology to ROM. Nature Genetics, 24, 1516.
  • Gillio, A.P., Verlander, P.C., Batish, S.D., Giampeitro, P.F. & Auerbach, A.D. (1997) Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry Study. Blood, 90, 105110.
  • Huff, V., Jaffe, N., Saunders, G.F., Strong, L.C., Villalba, F. & Ruteshouser, E.C. (1995) WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences. American Journal of Human Genetics, 56, 8490.
  • Ianzano, L., D'apolito, M., Centra, M., Savino, M., Levran, O., Auerbach, A.D., Cleton-Jansen, A.M., Doggett, N.A., Pronk, J.C., Tipping, A.J., Gibson, R.A., Mathew, C.G., Whitemore, S.A., Apostolou, S., Callen, D.F., Zelante, L. & Savoia, A. (1997) The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics, 41, 309314.DOI: 10.1006/geno.1997.4675
  • Joenje, H., Oostra, A.B., Wijker, M., Summa, F.M., Van Berker, C.G.M., Rooimans, M.A., Ebell, W., Van Weel, M., Pronk, J.C., Buchwald, M. & Arwert, F. (1997) Evidence for at least eight Fanconi anemia genes. American Journal of Human Genetics, 61, 940944.
  • Koc, A., Pronk, J.C., Alikasifoglu, M., Joenje, H. & Altay, C. (1999) Variable pathogenicity of exon 43del (FAA) in four Fanconi anemia patients within a consanguineous family. British Journal of Haematology, 104, 127130.
  • Krawczak, M. & Cooper, D.N. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and role of the local DNA sequence environment. Human Genetics, 80, 426441.
  • Levran, O., Erlich, T., Magdalena, N., Gregory, J.J., Batish, S.D., Verlander, P.C. & Auerbach, A.D. (1997) Sequence variations in the Fanconi anemia gene FAA. Proceedings of the National Academy of Sciences of the United States of America, 94, 1305113056.
  • Levran, O., Doggett, N.A. & Auerbach, A.D. (1998) Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Human Mutation, 12, 145152.DOI: 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G
  • Lo Ten Foe, J., Rooimans, A.A., Bosnyan-Collins, L., Alon, N., Wijker, M., Parker, L., Lightfoot, J., Carreau, M., Callen, D.F., Savoia, A., Cheng, N.C., Van Berkel, C.G.M., Strunk, M.H.P., Gille, J.J.P., Pals, G., Kruyt, F.A.E., Pronk, J.C., Arwert, F., Buchwald, M. & Jonje, H. (1996) Expression of cloning of a cDNA for the major Fanconi anemia gene, FAA. Nature Genetics, 14, 320323.
  • Miller, S.A., Dykes, D.D. & Polasky, H.F. (1988) A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
  • Morgan, N.V., Tipping, A.J., Joenje, H. & Mathew, C.G. (1999) High frequency of large intragenic deletions in the Fanconi anemia group A gene. American Journal of Human Genetics, 65, 13301341.
  • Nakamura, A., Matsuura, S., Tauchi, H., Hanada, R., Ohashi, H., Hasagawa, T., Honda, K., Masuno, M., Imaizumi, K., Sugita, K., Ide, T. & Komatsu, K. (1999) Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. Journal of Human Genetics, 44, 4851.DOI: 10.1007/s100380050106
  • Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proceedings of the National Academy of Sciences of the United States of America, 8627, 6670.
  • Savino, M., Ianzano, L., Strippoli, P., Ramenghi, U., Arslanian, A., Bagnara, G.P., Joenje, H., Zelante, L. & Savoia, A. (1997) Mutation of the Fanconi anemia group A gene (FAA) in Italian patients. American Journal of Human Genetics, 61, 12461253.
  • Strathdee, C.A., Gavish, H., Shannon, W.R. & Buchwald, M. (1992) Cloning of cDNAs for Fanconi anemia by functional complementation. Nature, 356, 763767.
  • Tachibana, A., Kato, T., Ejima, Y., Yamada, T., Shimizu, T., Yang, L., Tsunematsu, Y. & Sasaki, M.S. (1999) The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Human Mutation, 13, 237244.DOI: 10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F
  • The Fanconi Anemia/Breast Cancer Consortium (1996) Cloning of the Fanconi anemia group A gene. Nature Genetics, 14, 324328.
  • Verlander, P.C., Lin, J.D., Udono, M.U., Zhang, Q., Gibson, R.A., Mathew, C.G. & Auerbach, A.D. (1994) Mutation analysis of the Fanconi anemia gene FACC. American Journal of Human Genetics, 54, 595601.
  • Verlander, P.C., Kaporis, A., Liu, Q., Zhand, Q., Seligsohn, U. & Auerbach, A.D. (1995) Carrier frequency of the IVS4 + 4 A>T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood, 86, 40344038.
  • Wijker, M., Morgan, N.V., Herterich, S., Van Berkel, C.G., Tipping, A.J., Gross, H.J., Gille, J.J., Pals, G., Savino, M., Altay, C., Mohan, S., Kokal, I., Cavenagh, J., Marsh, J., Van Weel, M., Ortega, J.J., Schuler, D., Samochatova, E., Karwacki, M., Bekassy, A.N., Abecasis, M., Ebell, W., Kwee, M.L., De Ravel, T. & Mathew, C.G. (1999) Heterogeneous spectrum of mutations in the Fanconi anemia group A gene. European Journal of Human Genetics, 7, 5259.