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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

130 related items for PubMed ID: 31921940

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  • 24. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
    McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA.
    Hum Mol Genet; 1994 Feb; 3(2):303-7. PubMed ID: 8004099
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  • 25. Hand involvement in Schmid metaphyseal chondrodysplasia.
    Elliott AM, Field FM, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2005 Jan 15; 132A(2):191-3. PubMed ID: 15578582
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  • 28. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
    Ain NU, Makitie O, Naz S.
    J Med Genet; 2018 Jun 15; 55(6):403-407. PubMed ID: 28830906
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  • 29. Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.
    Chan D, Cole WG, Rogers JG, Bateman JF.
    J Biol Chem; 1995 Mar 03; 270(9):4558-62. PubMed ID: 7876225
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  • 30. Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.
    Bogin O, Kvansakul M, Rom E, Singer J, Yayon A, Hohenester E.
    Structure; 2002 Feb 03; 10(2):165-73. PubMed ID: 11839302
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  • 33. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
    Chan D, Weng YM, Graham HK, Sillence DO, Bateman JF.
    J Clin Invest; 1998 Apr 01; 101(7):1490-9. PubMed ID: 9525992
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  • 34. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
    Bonaventure J, Chaminade F, Maroteaux P.
    Hum Genet; 1995 Jul 01; 96(1):58-64. PubMed ID: 7607655
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  • 35. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
    Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D.
    Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716
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  • 36. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
    Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X.
    Clin Chim Acta; 2011 Jun 11; 412(13-14):1266-9. PubMed ID: 21447328
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  • 37. Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
    Forouhan M, Sonntag S, Boot-Handford RP.
    Hum Mol Genet; 2018 Nov 15; 27(22):3840-3853. PubMed ID: 30010889
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