Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Doherty, L., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Clinton, C., Schneider, H. E., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., Matysiak, M., Glader, B., Arceci, R. J., Farrar, J. E., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Gazda, H. T.Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 86: 222-228, 2010. Note: Erratum: Am. J. Hum. Genet 86: 655-656, 2010. [PubMed: 20116044] [Full Text: https://doi.org/10.1016/j.ajhg.2009.12.015\]
  2. Farrar, J. E., Nater, M., Caywood, E., McDevitt, M. A., Kowalski, J., Takemoto, C. M., Talbot, C. C., Jr., Meltzer, P., Esposito, D., Beggs, A. H., Schneider, H. E., Grabowska, A., and 9 others.Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 112: 1582-1592, 2008. [PubMed: 18535205] [Full Text: https://doi.org/10.1182/blood-2008-02-140012\]
  3. Gazda, H. T., Grabowska, A., Merida-Long, L. B., Latawiec, E., Schneider, H. E., Lipton, J. M., Vlachos, A., Atsidaftos, E., Ball, S. E., Orfali, K. A., Niewiadomska, E., Da Costa, L., and 11 others.Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 79: 1110-1118, 2006. [PubMed: 17186470] [Full Text: https://doi.org/10.1086/510020\]
  4. Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Beggs, A. H.Frameshift mutation of p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia. Hum. Mutat. 33: 1037-1044, 2012. [PubMed: 22431104] [Full Text: https://doi.org/10.1002/humu.22081\]
  5. Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am. J. Hum. Genet. 83: 769-780, 2008. [PubMed: 19061985] [Full Text: https://doi.org/10.1016/j.ajhg.2008.11.004\]
  6. Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum. Genet. 132: 1265-1274, 2013. [PubMed: 23812780] [Full Text: https://doi.org/10.1007/s00439-013-1326-z\]