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pro vyhledávání: '"Spotila, L. D."'
Akademický článek
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Autor:
Spotila, L. D., Constantinou-Deltas, Constantinos D., Sereda, L., Ganguly, A., Riggs, B. L., Prockop, D. J.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proc.Natl.Acad.Sci.U.S.A.
Proc.Natl.Acad.Sci.U.S.A.
Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here we show that a 52-year-old postmenopausal woman wit
Autor:
Ioannidis, J P, Ng, M Y, Sham, P C, Zintzaras, E, Lewis, C M, Deng, H W, Econs, M J, Karasik, D, Devoto, M, Kammerer, C M, Spector, T, Andrew, T, Cupples, L A, Duncan, E L, Foroud, T, Kiel, D P, Koller, D, Langdahl, Bente Lomholt, Mitchell, B D, Peacock, M, Recker, R, Shen, H, Sol-Church, K, Spotila, L D, Uitterlinden, A G, Wilson, S G, Kung, A W, Ralston, S H
Publikováno v:
Journal of Bone and Mineral Research, 22, 173-183. Wiley-Blackwell
Ioannidis, J P, Ng, M Y, Sham, P C, Zintzaras, E, Lewis, C M, Deng, H W, Econs, M J, Karasik, D, Devoto, M, Kammerer, C M, Spector, T, Andrew, T, Cupples, L A, Duncan, E L, Foroud, T, Kiel, D P, Koller, D, Langdahl, B L, Mitchell, B D, Peacock, M, Recker, R, Shen, H, Sol-Church, K, Spotila, L D, Uitterlinden, A G, Wilson, S G, Kung, A W & Ralston, S H 2006, ' Meta-Analysis of Genome Wide Scans Provides Evidence for Gender and Site Specific Regulation of Bone Mass ', Journal of Bone and Mineral Research, vol. 22, no. 2, pp. 173-183 .
Ioannidis, J P, Ng, M Y, Sham, P C, Zintzaras, E, Lewis, C M, Deng, H W, Econs, M J, Karasik, D, Devoto, M, Kammerer, C M, Spector, T, Andrew, T, Cupples, L A, Duncan, E L, Foroud, T, Kiel, D P, Koller, D, Langdahl, B L, Mitchell, B D, Peacock, M, Recker, R, Shen, H, Sol-Church, K, Spotila, L D, Uitterlinden, A G, Wilson, S G, Kung, A W & Ralston, S H 2006, ' Meta-Analysis of Genome Wide Scans Provides Evidence for Gender and Site Specific Regulation of Bone Mass ', Journal of Bone and Mineral Research, vol. 22, no. 2, pp. 173-183 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::41312062f28b27bc8c72236866be1b71
https://pure.eur.nl/en/publications/d0404451-f886-44d7-94ff-63dada4db939
https://pure.eur.nl/en/publications/d0404451-f886-44d7-94ff-63dada4db939
Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, we describe a third case that was discovered because the proband was homozygous for a mutation in the COL1A2 gene for type I procollagen,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fe7f315718bdc4f1f2d50701faf809c3
https://europepmc.org/articles/PMC1682915/
https://europepmc.org/articles/PMC1682915/
Autor:
Constantinou-Deltas, Constantinos D., Spotila, L. D., Zhuang, J., Sereda, L., Hanning, C., Prockop, D. J.
Publikováno v:
Nucleic acids research
Nucleic Acids Res.
Nucleic Acids Res.
18 Cited By :16
Akademický článek
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Autor:
Spotila, L. D., Rodriguez, H., Koch, M., Tenenhouse, H. S., Tenenhouse, A., Li, H., Devoto, M.
Publikováno v:
Calcified Tissue International; Aug2003, Vol. 73 Issue 2, p140-146, 7p
Autor:
Crim, J. L., Spotila, L. D., Spotila, J. R., O'Connor, M., Reina, R., Williams, C. J., Paladino, F. V.
Publikováno v:
Molecular Ecology; Oct2002, Vol. 11 Issue 10, p2097-2106, 10p
Autor:
Spotila, L. D., Rodriguez, H., Koch, M., Adams, K., Caminis, J., Tenenhouse, H. S., Tenenhouse, A.
Publikováno v:
Journal of Bone & Mineral Research; Jul2000, Vol. 15 Issue 7, p1376-1383, 8p
Autor:
Devoto, M, Shimoya, K, Caminis, J, Ott, J, Tenenhouse, A, Whyte, M P, Sereda, L, Hall, S, Considine, E, Williams, C J, Tromp, G, Kuivaniemi, H, Ala-Kokko, L, Prockop, D J, Spotila, L D
Publikováno v:
European Journal of Human Genetics; Mar1998, Vol. 6 Issue 2, p151, 7p