D. Costa, L. Willig, T. N. Fixler, J. Mohandas, N. Tchernia et al., Diamond-Blackfan anemia, Current Opinion in Pediatrics, vol.13, issue.1, pp.10-15, 2001.
DOI : 10.1097/00008480-200102000-00002

URL : https://hal.archives-ouvertes.fr/hal-00308965

T. N. Willig, H. Gazda, and C. A. Sieff, Diamond-Blackfan anemia, Current Opinion in Hematology, vol.7, issue.2, pp.85-94, 2000.
DOI : 10.1097/00062752-200003000-00003

P. Gustavsson, E. Garelli, N. Draptchinskaia, S. Ball, T. N. Willig et al., Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity, The American Journal of Human Genetics, vol.63, issue.5, pp.1388-1395, 1998.
DOI : 10.1086/302100

N. Draptchinskaia, P. Gustavsson, B. Andersson, M. Pettersson, T. N. Willig et al., The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia, Nat. Genet, vol.21, pp.169-175, 1999.

I. Leger-silvestre, J. M. Caffrey, R. Dawaliby, D. A. Alvarez-arias, N. Gas et al., Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis, Journal of Biological Chemistry, vol.280, issue.46, pp.38177-38185, 2005.
DOI : 10.1074/jbc.M506916200

URL : https://hal.archives-ouvertes.fr/hal-00022332

H. Matsson, E. J. Davey, N. Draptchinskaia, I. Hamaguchi, A. Ooka et al., Targeted Disruption of the Ribosomal Protein S19 Gene Is Lethal Prior to Implantation, Molecular and Cellular Biology, vol.24, issue.9, pp.4032-4037, 2004.
DOI : 10.1128/MCB.24.9.4032-4037.2004

V. Choesmel, D. Bacqueville, J. Rouquette, J. Noaillac-depeyre, S. Fribourg et al., Impaired ribosome biogenesis in Diamond-Blackfan anemia, Blood, vol.109, issue.3, pp.1275-1283, 2007.
DOI : 10.1182/blood-2006-07-038372

URL : https://hal.archives-ouvertes.fr/hal-00308965

J. Flygare, A. Aspesi, J. C. Bailey, K. Miyake, J. M. Caffrey et al., Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits, Blood, vol.109, issue.3, pp.980-986, 2007.
DOI : 10.1182/blood-2006-07-038232

R. A. Idol, S. Robledo, H. Y. Du, D. L. Crimmins, D. B. Wilson et al., Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production, Blood Cells, Molecules, and Diseases, vol.39, issue.1, pp.35-43, 2007.
DOI : 10.1016/j.bcmd.2007.02.001

H. T. Gazda, A. Grabowska, L. B. Merida-long, E. Latawiec, H. E. Schneider et al., Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia, The American Journal of Human Genetics, vol.79, issue.6, pp.1110-1118, 2006.
DOI : 10.1086/510020

S. R. Ellis and A. T. Massey, Diamond Blackfan anemia: A paradigm for a ribosome-based disease, Medical Hypotheses, vol.66, issue.3, pp.643-648, 2006.
DOI : 10.1016/j.mehy.2005.09.010

M. F. Campagnoli, E. Garelli, P. Quarello, A. Carando, S. Varotto et al., Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature, Haematologica, vol.89, pp.480-489, 2004.

H. T. Gazda and C. A. Sieff, Recent insights into the pathogenesis of Diamond?Blackfan anaemia, British Journal of Haematology, vol.90, issue.1, pp.149-157, 1993.
DOI : 10.1128/MCB.23.23.8902-8912.2003

. De-la-fortelle and G. Bricogne, [27] Maximum-likelihood heavy-atom parameter refinement for multiple isomorphous replacement and multiwavelength anomalous diffraction methods, Methods Enzymol, vol.472, pp.472-494, 1997.
DOI : 10.1016/S0076-6879(97)76073-7

P. Emsley and K. Cowtan, : model-building tools for molecular graphics, Acta Crystallographica Section D Biological Crystallography, vol.60, issue.12, pp.2126-2132, 2004.
DOI : 10.1107/S0907444904019158

M. D. Winn, M. N. Isupov, and G. N. Murshudov, Use of TLS parameters to model anisotropic displacements in macromolecular refinement, Acta Crystallographica Section D Biological Crystallography, vol.57, issue.1, pp.122-133, 2001.
DOI : 10.1107/S0907444900014736

C. Dez, J. Noaillac-depeyre, M. Caizergues-ferrer, and Y. Henry, Naf1p, an Essential Nucleoplasmic Factor Specifically Required for Accumulation of Box H/ACA Small Nucleolar RNPs, Molecular and Cellular Biology, vol.22, issue.20, pp.7053-7065, 2002.
DOI : 10.1128/MCB.22.20.7053-7065.2002

I. Leger-silvestre, P. Milkereit, S. Ferreira-cerca, C. Saveanu, J. C. Rousselle et al., The ribosomal protein Rps15p is required for nuclear exit of the 40S subunit precursors in yeast, The EMBO Journal, vol.59, issue.12, pp.2336-2347, 2004.
DOI : 10.1038/35030006

URL : https://hal.archives-ouvertes.fr/hal-00022401

D. Costa, L. Tchernia, G. Gascard, P. Lo, A. Meerpohl et al., Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology, Blood, vol.101, issue.>12, pp.5039-5045, 2003.
DOI : 10.1182/blood-2002-12-3878

J. Cmejlova, L. Dolezalova, D. Pospisilova, K. Petrtylova, J. Petrak et al., Translational efficiency in patients with Diamond-Blackfan anemia, Haematologica, vol.91, pp.1456-1464, 2006.

M. Angelini, S. Cannata, V. Mercaldo, L. Gibello, C. Santoro et al., Missense mutations associated to Diamond-Blackfan Anemia affect the assembly of ribosomal protein S19 into the ribosome Sensing cellular stress: another new function for the nucleolus, Hum. Mol. Genet., in press. 26. Olson, M.O. Sci STKE, p.10, 2004.

D. G. Pestov, Z. Strezoska, and L. F. Lau, Evidence of p53-Dependent Cross-Talk between Ribosome Biogenesis and the Cell Cycle: Effects of Nucleolar Protein Bop1 on G1/S Transition, Molecular and Cellular Biology, vol.21, issue.13, pp.4246-4255, 2001.
DOI : 10.1128/MCB.21.13.4246-4255.2001

C. P. Rubbi and J. Milner, p53 is a chromatin accessibility factor for nucleotide excision repair of DNA damage, The EMBO Journal, vol.22, issue.4, pp.975-986, 2003.
DOI : 10.1093/emboj/cdg082