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Journal Abstract Search

220 related items for PubMed ID: 12966518

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  • 5. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
    Karniski LP.
    Hum Mol Genet; 2001 Jul 01; 10(14):1485-90. PubMed ID: 11448940
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  • 7. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
    Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L.
    Am J Hum Genet; 2001 Nov 01; 69(5):969-80. PubMed ID: 11565064
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  • 9. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
    Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S.
    J Hum Genet; 2008 Nov 01; 53(8):764-768. PubMed ID: 18553123
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  • 10. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
    Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A.
    J Med Genet; 2003 Jan 01; 40(1):65-71. PubMed ID: 12525546
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  • 12. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
    Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, Ikegawa S.
    Am J Med Genet A; 2006 Jun 01; 140(11):1143-7. PubMed ID: 16642506
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  • 15. Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
    Karniski LP.
    Hum Mol Genet; 2004 Oct 01; 13(19):2165-71. PubMed ID: 15294877
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  • 18. A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
    Forlino A, Piazza R, Tiveron C, Della Torre S, Tatangelo L, Bonafè L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A.
    Hum Mol Genet; 2005 Mar 15; 14(6):859-71. PubMed ID: 15703192
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  • 19. Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
    Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O.
    Eur J Med Genet; 2019 Nov 15; 62(11):103573. PubMed ID: 30423444
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