A gene for achondroplasia–hypochondroplasia maps to chromosome 4p (original) (raw)

References

1. Parrot, J.M. Sur les malformations achondroplasiques et le dieu Ptah. Bull. Anthropol. (Paris) 1, 296 (1878).
   Google Scholar
2. Maroteaux, P. & Lamy, M. Achondroplasia in man and animals. Clin. Orthop. 33, 91–103 (1964).
   Article CAS PubMed Google Scholar
3. Ravenna. Achondroplasie et chondrohypoplasie. Nou. Iconog. Sapel. 26, 157–184 (1913).
   Google Scholar
4. Levy. Hypochondroplasie. Bull. Soc. Med. Hôp. Paris 48, 1780–1787 (1924).
   Google Scholar
5. Maroteaux, P. & Falzon, P. Hypochondroplasie. Revue de 80 cas. Arch. Fr. Pediat. 45, 105–109 (1988).
   CAS PubMed Google Scholar
6. Oberklaid, F., Danks, D.M., Jensen, F., Stace, L. & Rosshandler, S. Achondroplasia and hypochondroplasia. J. med. Genet. 16, 140–146 (1979).
   Article CAS PubMed PubMed Central Google Scholar
7. Wynne-Davies, T. et al. Achondroplasia and hypochondroplasia: clinical variation and spinal stenosis. J. bone joint Surg. 63B, 508–515 (1981).
   Article CAS Google Scholar
8. McKusick, V.A., Kelly, T.E. & Dorst, J.P. Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J. med. Genet. 10, 11–16 (1973).
   Article CAS PubMed PubMed Central Google Scholar
9. Sommer, A., Young-Wee, T. & Frye, T. Achondroplasia-Hypochondroplasia complex. Am. J. med. Genet. 26, 949–957 (1987).
   Article CAS PubMed Google Scholar
10. Stanescu, V., Stanescu, R. & Maroteaux, P. Etude morphologique et blochimique du cartilage de croissance dans les astéochondrodysplasis. Arch. Fr. Pediat. XXXIV 3 (suppl) (1977).
    Google Scholar
11. Stanescu, R., Stanescu, V. & Maroteaux, P. Homozygous achondroplasia: morphologic and biochemical study of cartilage. Am. J. med. Genet. 37, 412–421 (1990).
    Article CAS PubMed Google Scholar
12. Ponseti, I.V. Skeletal growth in achondroplasia. J. bone joint Surg. 52A, 701–716 (1970).
    Article Google Scholar
13. Murdoch, J.L. et al. Achondroplasia-a genetic and statistical survey. Ann. hum. Genet. 33, 227–244 (1970).
    Article CAS PubMed Google Scholar
14. Orioli, I.M., Castilla, E.E. & Barbosa-Neto, J.G. The birth prevalence rates for the skeletal dysplasia. J. med. Genet. 23, 328–332 (1986).
    Article CAS PubMed PubMed Central Google Scholar
15. Stoll, C., Dott, B., Roth, M.P. & Alembik, Y. Birth prevalence rates of skeletal dysplasias. Clin. Genet. 35, 88–92 (1989).
    Article CAS PubMed Google Scholar
16. Bouvet, J.P., Maroteaux, P. & Felngold, J. Etude génétique de I'achondroplasie. Ann. Génét. 14, 127–131 (1971).
    CAS PubMed Google Scholar
17. Hall, B.D. & Spranger, J. Hypochondroplasia: clinical and radiological aspects in 39 cases. Radiology 133, 95–100 (1979).
    Article CAS PubMed Google Scholar
18. Gardner, R.J.M. A new estimate of the achondroplasia mutation rate. Clin. Genet. 11, 31–38 (1977).
    Article CAS PubMed Google Scholar
19. Pulst, S.M. et al. The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. Hum. Genet. 85, 12–14 (1990).
    CAS PubMed Google Scholar
20. Pulst, S.M. et al. Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. Am. J. med. Genet. 10, 84–87 (1991).
    Article Google Scholar
21. Ogilvie, D., Wordsworth, P., Thompson, E. & Sykes, B. Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. J. med. Genet. 23, 19–22 (1986).
    Article CAS PubMed PubMed Central Google Scholar
22. Carter, W.A. et al. SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of cnondrodysplasia. Am. J. hum. Genet. 51, 841–849 (1992).
    Google Scholar
23. Weissenbach, J. et al. A second generation linkage map of the human genome. Nature 359, 794–801 (1992).
    Article CAS PubMed Google Scholar
24. Gusella, J.F. et al. Sequence tagged sits (STSs) spanning up 4p16.3 and the Huntington disease candidate region. Genomics 13, 75–80 (1992).
    Article CAS PubMed Google Scholar
25. Scott, H.S., Nelson, P.V., Hopwood, J.J. & Morris, C.P. PCR of a VNTR linked to mucopolysaccharidosls type I and Huntington disease. Nuc. Acids Res. 19, 6348 (1991).
    Article CAS Google Scholar
26. Maynard, J.A. et al. Histochemistry and ultrastructure of the growth plate in achondroplasia. J. bone Joint. Surg. 63A, 969–979 (1981).
    Article Google Scholar
27. Mullis, P.E., Patell, M.S., Brickell, P.M., Hindmarsh, P.C. & Brook, C. Growth characteristics and response to growth hormone therapy In patients with hypochondroplasia: genetic linkage of the insulin-like growth factor 1 gene at chromosome 12q23 to the disease in a subgroup of these patients. Clin. Endocrinol. 14, 265–274 (1991).
    Article Google Scholar
28. Wilson, H.G. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome (del 4p). Hum. Genet. 59, 397–307 (1981).
    Article Google Scholar
29. Tommerup, M. et al. A zinc finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. Hum. molec. Genet. 2, 1571–1575 (1993).
    Article CAS PubMed Google Scholar
30. Weber, B. et al. Genomic organization and complete sequence of the human gene encoding the B-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3. Nucl. Acid. Res. 19, 6263–6268 (1991).
    Article CAS Google Scholar
31. Padanilam, B.J. et al. Characterization of the human HOX 7 cDNA and identification of polymorphic markers. Hum. molec. Genet. 1, 104–410 (1992).
    Article Google Scholar
32. Keegan, K., Johnson, D.E., Williams, L.T. & Hayman, M.J. Isolation of an additional member of the fibroblast growth factor receptor family FGFR3. Proc. natn. Acac. Sci. U.S.A. 88, 1095–1099 (1991).
    Article CAS Google Scholar
33. Thompson, L.M. et al. A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Genomics 11, 1133–1142 (1991).
    Article CAS PubMed Google Scholar
34. Burgess, W.H. & Maciag, T. The heparin-binding (fibroblast) growth factor family of proteins. Ann. Rev. Biochem. 58, 575–606 (1989).
    Article CAS PubMed Google Scholar
35. Kato, Y. & Iwamoto, M. Fibroblast growth factor is an inhibitor of chondrocyte terminal differentiation. J. biol. Chem. 365, 5903–5909 (1990).
    Google Scholar
36. Iwamoto, M., Shimazu, A., Nakasnima, K., Susuki, F. & Kato, Y. Reduction in basic fibroblast growth factor receptor is coupled with terminal differentiation of chrondrocytes. J. biol. Chem. 266, 461–467 (1991).
    CAS PubMed Google Scholar
37. Vignal, A. et al. Non radioactive multiplex procedure for genotyping of microsatellite markers. In Methods in Molecular Genetics: chromosome and gene analysis 1 (ed. Adolph, K.W.) 211–221 (Academic Press, Orlando, 1993).
    Google Scholar
38. Lathrop, G.M. & Lalouel, J.M. Easy calculation of lod scores and genetic risk on small computers. Am. J. hum. Genet. 36, 460–465 (1984).
    CAS PubMed PubMed Central Google Scholar
39. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Multllocus linkage analysis in human. Detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482–498 (1985).
    CAS PubMed PubMed Central Google Scholar
40. Ott, J. Variability of the recombination fraction: analysis of human genetic linkage 112–115 (John Hopkins University Press, Baltimore, 1985).
    Google Scholar

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