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Volumn 19, Issue 1, 1998, Pages 70-73

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0031747158     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0198-70     Document Type: Article
Times cited : (283)

References (19)
  • 1
    • 0001432383 scopus 로고
    • Une affection congenitale et symetrique du developpement osseux: La dyschondrosteose
    • Léri, A. & Weill. J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mém. Soc. Med. Hop. Paris. 35, 1491-1494 (1929).
    • (1929) Bull. Mém. Soc. Med. Hop. Paris. , vol.35 , pp. 1491-1494
    • Léri, A.1    Weill, J.2
  • 2
    • 0018853248 scopus 로고
    • Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis
    • Lichtenstein, J.R., Sundaram, M. & Burdge, R. Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis. J. Med. Genet. 17, 41-43 (1980).
    • (1980) J. Med. Genet. , vol.17 , pp. 41-43
    • Lichtenstein, J.R.1    Sundaram, M.2    Burdge, R.3
  • 3
    • 0014135485 scopus 로고
    • Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type
    • Langer, L.O. Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology 89, 654-660 (1967).
    • (1967) Radiology , vol.89 , pp. 654-660
    • Langer, L.O.1
  • 4
    • 0016581770 scopus 로고
    • Mesomelic dwarfism as the homozygous expression of dyschondrosteosis
    • Espiritu, C., Chen, H. & Woolley, P. Mesomelic dwarfism as the homozygous expression of dyschondrosteosis. Am. J. Dis. Child. 129, 375-377 (1975).
    • (1975) Am. J. Dis. Child. , vol.129 , pp. 375-377
    • Espiritu, C.1    Chen, H.2    Woolley, P.3
  • 5
    • 0018293734 scopus 로고
    • Langer type of mesomelic dysplasia as the possible homozygous expression of dyschondrosteosis
    • Fryns, J.P. & Van den Berghe, H. Langer type of mesomelic dysplasia as the possible homozygous expression of dyschondrosteosis. Hum. Genet. 46, 21-27 (1979).
    • (1979) Hum. Genet. , vol.46 , pp. 21-27
    • Fryns, J.P.1    Van Den Berghe, H.2
  • 6
    • 0018818396 scopus 로고
    • Mesomelic dysplasia. type Langer - A homozygous state for dyschondrosteosis
    • Kunze, J. & Klemm, T. Mesomelic dysplasia. type Langer - a homozygous state for dyschondrosteosis. Eur. J. Paediatr. 134, 269-272 (1980).
    • (1980) Eur. J. Paediatr. , vol.134 , pp. 269-272
    • Kunze, J.1    Klemm, T.2
  • 7
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao, E. et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet. 16, 54-63 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 54-63
    • Rao, E.1
  • 8
    • 0030877094 scopus 로고    scopus 로고
    • PHOG, a candidate gene for involvement in the short stature of Turner syndrome
    • Ellison, J.W. et al. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 6, 1341-1347 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1341-1347
    • Ellison, J.W.1
  • 9
    • 0015939269 scopus 로고
    • Y to X translocation in a woman with reproductive failure
    • Khudr, G. et al. Y to X translocation in a woman with reproductive failure. J. Am. Med. Assoc. 226, 544-549 (1973).
    • (1973) J. Am. Med. Assoc. , vol.226 , pp. 544-549
    • Khudr, G.1
  • 10
    • 0022030383 scopus 로고
    • Translocation of X;Y chromosomes in a woman with dyschondrosteosis and sterility
    • Youlton, R., Castillo, S. & Be, C. Translocation of X;Y chromosomes in a woman with dyschondrosteosis and sterility. Rev. Med. Chile 113, 228-230 (1985).
    • (1985) Rev. Med. Chile , vol.113 , pp. 228-230
    • Youlton, R.1    Castillo, S.2    Be, C.3
  • 11
    • 0027964346 scopus 로고
    • X;Y translocation in a girl with short stature and some features of Turner's syndrome: Cytogenetic and molecular studies
    • Kuznetzova, T. et al. X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. J. Med. Genet. 31, 649-651 (1994).
    • (1994) J. Med. Genet. , vol.31 , pp. 649-651
    • Kuznetzova, T.1
  • 12
    • 0030765593 scopus 로고    scopus 로고
    • Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?
    • Guichet, A., Briault, S., Le Merrer, M. & Moraine, C Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity? Clin. Dysmorphol. 6, 341-345 (1997).
    • (1997) Clin. Dysmorphol. , vol.6 , pp. 341-345
    • Guichet, A.1    Briault, S.2    Le Merrer, M.3    Moraine, C.4
  • 13
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154 (1996).
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 14
    • 0029167051 scopus 로고
    • Chromosomal localisation of a Y specific growth gene(s)
    • Ogata, T. et al. Chromosomal localisation of a Y specific growth gene(s). J. Med. Genet. 32, 572-575 (1995).
    • (1995) J. Med. Genet. , vol.32 , pp. 572-575
    • Ogata, T.1
  • 15
    • 0031009549 scopus 로고    scopus 로고
    • The Y specific growth gene(s): How does it promote stature?
    • Ogata, T. & Matsuo, N. The Y specific growth gene(s): how does it promote stature? J. Med. Genet 34, 323-325 (1997).
    • (1997) J. Med. Genet , vol.34 , pp. 323-325
    • Ogata, T.1    Matsuo, N.2
  • 16
    • 0029021639 scopus 로고
    • Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
    • Ogata, T & Matsuo, N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum. Genet. 95, 627-629 (1995).
    • (1995) Hum. Genet. , vol.95 , pp. 627-629
    • Ogata, T.1    Matsuo, N.2
  • 17
    • 0031201414 scopus 로고    scopus 로고
    • Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients
    • Francisco, R.J.L., Buron, S.P., Martinez, P.E., Lozano, B.G. & Blanc, R.F. Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients. An. Esp. Pediatr. 47, 167-171 (1997).
    • (1997) An. Esp. Pediatr. , vol.47 , pp. 167-171
    • Francisco, R.J.L.1    Buron, S.P.2    Martinez, P.E.3    Lozano, B.G.4    Blanc, R.F.5
  • 18
    • 0028058986 scopus 로고
    • Human haploinsufficiency - One for sorrow, two for joy
    • Fisher, E. & Scambler, P.J. Human haploinsufficiency - one for sorrow, two for joy. Nature Genet. 7, 5-9 (1994).
    • (1994) Nature Genet. , vol.7 , pp. 5-9
    • Fisher, E.1    Scambler, P.J.2
  • 19
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460-465 (1984).
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.