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Journal Abstract Search

146 related items for PubMed ID: 9258750

  • 1. Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
    Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV.
    J Bone Miner Res; 1997 Aug; 12(8):1204-9. PubMed ID: 9258750
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  • 5. Achondroplasia is not caused by mutation in the gene for type II collagen.
    Francomano CA, Pyeritz RE.
    Am J Med Genet; 1988 Apr; 29(4):955-61. PubMed ID: 2899976
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  • 6. Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
    Hecht JT, Blanton SH, Wang Y, Daiger SP, Horton WA, Rhodes C, Yamada Y, Francomano CA.
    Am J Med Genet; 1992 Nov 01; 44(4):420-4. PubMed ID: 1442879
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  • 7. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
    Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH.
    Am J Hum Genet; 1994 Oct 01; 55(4):678-84. PubMed ID: 7942845
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  • 8. Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.
    Beighton P, Cilliers HJ, Ramesar R.
    Am J Med Genet; 1994 Dec 01; 53(4):348-51. PubMed ID: 7864044
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  • 11. Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus.
    Zhang J, Kumar A, Kaplan L, Fricker FJ, Wallace MR.
    J Med Genet; 2005 Aug 01; 42(8):663-5. PubMed ID: 16061566
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  • 12. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
    Winkelmann J, Lichtner P, Pütz B, Trenkwalder C, Hauk S, Meitinger T, Strom T, Muller-Myhsok B.
    Mov Disord; 2006 Jan 01; 21(1):28-33. PubMed ID: 16124010
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  • 13. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
    Sulisalo T, Sistonen P, Hästbacka J, Wadelius C, Mäkitie O, de la Chapelle A, Kaitila I.
    Nat Genet; 1993 Apr 01; 3(4):338-41. PubMed ID: 7981754
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  • 15. Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
    Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C.
    Neurology; 2008 Feb 26; 70(9):686-94. PubMed ID: 18032746
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  • 16. Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.
    Ye X, Shi L, Yin W, Meng L, Wang QK, Bian Z.
    J Clin Periodontol; 2009 Aug 26; 36(8):627-33. PubMed ID: 19552635
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  • 17. Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
    Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL.
    Genomics; 1991 Sep 26; 11(1):193-8. PubMed ID: 1765376
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  • 18. Autosomal dominant infantile gastroesophageal reflux disease: exclusion of a 13q14 locus in five well characterized families.
    Orenstein SR, Shalaby TM, Finch R, Pfuetzer RH, DeVandry S, Chensny LJ, Bannada MM, Whitcomb DC.
    Am J Gastroenterol; 2002 Nov 26; 97(11):2725-32. PubMed ID: 12425539
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  • 19. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
    Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P.
    Am J Med Genet; 1990 Oct 26; 37(2):272-6. PubMed ID: 1978986
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  • 20. A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
    Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.
    Mol Vis; 2007 Aug 01; 13():1357-62. PubMed ID: 17768382
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