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congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 1995; 85: 1805-14. 3. Hart A, Melet F, Grossfeld P, et al. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity 2000; 13: 167-77. 4. Shivdasani RA. Molecular and transcriptional regulation of megakaryocyte differentiation. Stem Cells 2001; 19: 397-407. 5. Spyropoulos DD, Pharr PN, Lavenburg KR, et al. Hemorrhage, impaired hematopoiesis, and lethality in mouse embryos carrying a targeted disruption of the Fli1 transcription factor. Mol Cell Biol 2000; 20: 5643-52. 6. Bartel FO, Higuchi T, Spyropoulos DD. Mouse models in the study of the Ets family of transcription factors. Oncogene 2000; 19: 6443-54. 7. Raslova H, Komura E, Le Couedic JP, et al. Fli1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004; 114: 77-84. 8. Hanel ML, Wevrick R. The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome. Clin Genet 2001; 59: 156-64. 9. Schlissel M. Allelic exclusion of immunoglobulin gene rearrangement and expression: why and how? Semin Immunol 2002; 14: 207-12. 10. Bix M, Locksley RM. Independent and epigenetic regulation of the interleukin-4 alleles in CD4+ T cells. Science 1998; 281: 1352-4. 11. Chess A, Simon I, Cedar H, Axel R. Allelic inactivation regulates olfactory receptor gene expression. Cell 1994; 78: 823-34. 12. Penny LA, Dell’Aquila M, Jones MC, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995; 56: 676-83. 13. Elowitz MB, Levine AJ, Siggia ED, Swain PS. Stochastic gene expression in a single cell. Science 2002; 297: 1183-6. 14. Newlands S, Levitt LK, Robinson CS, et al. Transcription occurs in pulses in muscle fibers. Genes Dev 1998; 12: 2748-58. 15. Cook DL, Gerber AN, Tapscott SJ. Modeling stochastic gene expression: implication for haploinsufficiency. Proc Natl Acad Sci USA 1998; 95: 15641-64.

Pharmacogénomique de l’hormone de croissance: le polymorphisme du récepteur en première ligne