Accès gratuit
Numéro
Med Sci (Paris)
Volume 21, Numéro 11, Novembre 2005
Page(s) 940 - 946
Section M/S revues
DOI https://doi.org/10.1051/medsci/20052111940
Publié en ligne 15 novembre 2005
  1. Eichler EE. Masquerading repeats : paralogous pitfalls of the human genome. Genome Res 1998; 8 : 758–62.
  2. Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000; 10 : 597–610.
  3. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998; 14 : 417–22.
  4. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002; 18 : 74–82.
  5. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2001; 2 : 280–91.
  6. Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 1986; 109 : 231–41.
  7. Emanuel BS, Shaikh TH. Segmental duplications : an expanding role in genomic instability and disease. Nat Rev Genet 2001; 2 : 791–800.
  8. Bailey JA, Gu Z, Clark RA, et al. Recent segmental duplications in the human genome. Science 2002; 297 : 1003–7.
  9. Horvath JE, Bailey JA, Locke DP, Eichler EE. Lessons from the human genome : transitions between euchromatin and heterochromatin. Hum Mol Genet 2001; 10 : 2215–23.
  10. Samonte RV, Eichler EE. Segmental duplications and the evolution of the primate genome. Nat Rev Genet 2002; 3 : 65–72.
  11. Bailey JA, Yavor AM, Viggiano L, et al. Human-specific duplication and mosaic transcripts : the recent paralogous structure of chromosome 22. Am J Hum Genet 2002; 70 : 83–100.
  12. Giglio S, Broman KW, Matsumoto N, et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001; 68 : 874–83.
  13. Edelmann L, Spiteri E, Koren K, et al. AT-rich palindromes mediate the constitutional t(11 ;22) translocation. Am J Hum Genet 2001; 68 : 1–13.
  14. Giglio S, Calvari V, Gregato G, et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16; p23) translocation. Am J Hum Genet 2002; 71 : 276–85.
  15. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders : the genomic basis of disease. Hum Mol Genet 2004; 13 : R57–64.
  16. Chakravarti A, Majumder PP, Slaugenhaupt SA, et al. Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. In: Hassold T, Epstein C, eds. Molecular and cytogenetic studies of non-disjunction. New York: Alan R. Liss, 1989: 45–79.
  17. Jacobs P, Dalton P, James R, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997; 61 : 471–83.
  18. Hassold T, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45, X conceptuses. Hum Genet 1992; 89 : 647–52.
  19. Lamb NE, Freeman SB, Savage-Austin A, et al. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 1996; 14 : 400–5.
  20. Savage AR, Petersen MB, Pettay D, et al. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet 1998; 7 : 1221–7.
  21. Warren AC, Chakravarti A, Wong C, et al. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down Syndrome. Science 1987; 237 : 652–4.
  22. Hassold TJ, Sherman SL, Pettay D, et al. XY chromosome nondisjunction in man in associated with diminished recombination in the pseudoautosomal region.Am J Hum Genet 1991; 49 : 253–60.
  23. Robinson WP, Bernasconi F, Mutirangura A, et al. Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet 1993; 53 : 740–51.
  24. Bridges CB. Nondisjonction as proof of the chromosome theory of heredity. Genetics 1916; 1 : 1–52, 107–63.
  25. Angell R. First-meiotic-division nondisjunction in human oocytes. Am J Hum Genet 1997; 61 : 23–32.
  26. Dailey T, Dale B, Cohen J, Munne S. Association between nondisjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet 1996; 59 : 176–84.
  27. Anahory T, Andreo B, Regnier-Vigouroux G, et al. Sequential multiple probe fluorescence in-situ hybridization analysis of human oocytes and polar bodies by combining centromeric labelling and whole chromosome painting. Mol Hum Reprod 2003; 9 : 577–85.
  28. Penrose L. The relative effects of paternal and maternal age in mongolism. J Genet 1993; 27 : 219–24.
  29. Hassold T, Chiu D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 1985; 70 : 11–7.
  30. Risch N, Stein Z, Kline J, Warburton D. The relationship between maternal age and chromosome size in autosomal trisomy. Am J Hum Genet 1986; 39 : 68–78.
  31. Lamb NE, Yu K, Shaffer J, et al. Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 2005; 76 : 91–9.
  32. James SJ, Pogribna M, Pogribny IP, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999; 70 : 495–501.
  33. Hobbs CA, Sherman SL, Yi P, et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 2000; 67 : 623–30.
  34. Chadefaux-Vekemans B, Coudé M, Muller F, et al. Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome. Pediatr Res 2002; 51 : 766–7.
  35. Romana SP, Gosset P, Elghezal H, et al. Apport de la cytogénétique moléculaire au diagnostic pré et postnatal des anomalies chromosomiques. J Gynecol Obstet Biol Reprod (Paris) 2001; 30 (suppl 1) : 75–9.
  36. Sanlaville D, Lapierre JM, Turleau C, et al. Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet 2005 (sous presse).
  37. Garrod AE. The inborn factors in disease. Oxford : Clarendon Press : 1931.

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