Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping (original) (raw)

References

1. Maroteaux, P. & Lamy, M. La pycnodysostose. Presse Med. 70, 999–1002 (1962).
   CAS PubMed Google Scholar
2. Andren, L., Dymling, J.F., Hogeman, K.E. & Wendeberg, B. Osteopetrosis acro-osteolytica: A syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull. Acta Chir. Scand. 124, 496–507 (1962).
   PubMed Google Scholar
3. Maroteaux, P. & Lamy, M. The malady of Toulouse-Lautrec. J. Am. med. Assoc. 191, 715–717 (1965).
   Article CAS Google Scholar
4. Maroteaux, P. La maladie de Toulouse-Lautrec. Presse Med. 23, 1635–1640 (1993).
   Google Scholar
5. Lander, E.S. & Botstein, D. Homozygosity mapping: A way to map human recessive traits with the DMA of inbred children. Science 236, 1567–1570 (1987).
   Article CAS PubMed Google Scholar
6. Kruglyak, L., Daly, M.J. & Lander, E.S. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am. J. Hum. Genet. 56, 519–527 (1995).
   CAS PubMed PubMed Central Google Scholar
7. Edelson, J.G., Obad, S., Geiger, R., On, A. & Artul, H.J. Pycnodysostosis: orthopedic aspects with a description of 14 new cases. Clin. Orthop. 280, 263–276 (1992).
   Google Scholar
8. Greenspan, A. Sclerosisng bone dysplasias- a target-site approach. Skeletal Radiol. 20, 561–583 (1991).
   Article CAS PubMed Google Scholar
9. Gyapay, G. et al. The 1993–94 Genethon human genetic linkage map. Nature Genet. 7, 246–330 (1994).
   Article CAS PubMed Google Scholar
10. Hoggard, N. et al. Mapping regions of allelic imbalance on chromosome 1 in human breast cancer. Cytogenet.Cell Genet. 67, 168 (1994).
    Google Scholar
11. Kluck, P.M.C. et al. The human interleukin-6 receptor alpha chain gene is localized on chromosome 1 band q21. Hum. Genet. 90, 542–544 (1993).
    Article CAS PubMed Google Scholar
12. Craig, R.W. et al. Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease. Genomics 23, 457–463 (1994).
    Article CAS PubMed Google Scholar
13. Kishimoto, T., Akira, S. & Taga, T. IL-6 receptor and mechanism of signal transduction. Int. J. Immunopharmac. 14, 431–438 (1992).
    Article CAS Google Scholar
14. Tamura, T. et al. Soluble interteukin-6 receptor triggers osteoclast formation by interleukin 6. Proc. Natn. Acad. Sci. U.S.A. 90, 11924–11928 (1993).
    Article CAS Google Scholar
15. Hoyland, J.A., Freemont, A.J. & Sharpe, P.T., IL-6 receptor, and IL-6 nuclear factor gene expression in Paget's disease. J. Bone miner. Res. 9, 75–80 (1994).
    Article CAS PubMed Google Scholar
16. Kopf, M. et al. Impaired immune and acute-phase responses in interleukin-6-deficient mice. Nature 368, 339–342 (1994).
    Article CAS PubMed Google Scholar
17. Balena, R. et al. Interleukin-6 deficient mice are protected from bone loss by estrogen depletion. EMBO J. 13, 1189–1196 (1994).
    Article PubMed PubMed Central Google Scholar
18. Kozopas, K.M., Yang, T., Buchan, H.L., Zhou, P. & Craig, R.W. MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2. Proc. Natl. Acad. Sci. U.S.A. 90, 3516–3520 (1993).
    Article CAS PubMed PubMed Central Google Scholar
19. Vaux, D.L., Cory, S. & Adams, J.M. Bcl-2 gene promotes hemopoietic cell survival and cooperates with c-myc to immortalize Pre-B cells. Nature 335, 440–442 (1988).
    Article CAS PubMed Google Scholar
20. McKusick, V.A. Abraham Lincoln and Marfan syndrome. Nature 352, 280 (1991).
    Article Google Scholar
21. Herrmann, J., France, T.D., Sprager, J.W., Opitz, J.M. & Wiffler, C., Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig. Art.Ser. XI, 76–103 (1975).
    Google Scholar
22. Macalpine, I., Hunter, R. & Rimington, C. Porphyria in the royal houses of Stuart, Hanover, and Prussia: A follow-up study of George III's illness. Brit. Med.J. 1, 7–18 (1968).
    Article CAS PubMed PubMed Central Google Scholar
23. Wolf, P.L. If clinical chemistry had exited then…. Clin. Chem. 40, 328–335 (1994).
    CAS PubMed Google Scholar
24. McKusick, V.A. The royal hemophilia. Sci. Am. 213, 88–95 (1965).
    Article CAS PubMed Google Scholar
25. Loftus, L.S. & Arnold, W.N. Vincent van Gogh's illness: Acute intermittent porphyria? Brit. med. J. 303, 1589–1591 (1991).
    Article CAS PubMed PubMed Central Google Scholar
26. O'Shea, J.G., Chopin's illness actually cystic fibrosis? Med. J. Aust. 147, 586–589 (1987).
    CAS PubMed Google Scholar
27. Frey, J. Toulouse-Lautrec: A life. (Viking Press, New York, 1994).
    Google Scholar
28. Anderson, M.A. & Gusella, J.F. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 20, 856–858 (1984).
    Article CAS PubMed Google Scholar
29. Verma, R.S. & Babu, A. Human chromsomes: principles and techniques. 2nd edn, 134–136 (McGraw-Hill, Inc., New York, 1995).
    Google Scholar
30. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482–498 (1985).
    CAS PubMed PubMed Central Google Scholar

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