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136 related items for PubMed ID: 14755466

  • 1. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.
    Leroy JG, Leroy BP, Emmery LV, Messiaen L, Spranger JW.
    Am J Med Genet A; 2004 Feb 15; 125A(1):49-56. PubMed ID: 14755466
    [Abstract] [Full Text] [Related]

  • 2. Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads.
    Hernández A, Nazara Z, Reynoso MC, Lizcano-Gil LA, Lopez R, Sarralde A, Fragoso R.
    Genet Couns; 1996 Feb 15; 7(3):187-91. PubMed ID: 8897039
    [Abstract] [Full Text] [Related]

  • 3. Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
    Kohn G, Elrayyes ER, Makadmah I, Rösler A, Grünebaum M.
    J Med Genet; 1987 Jun 15; 24(6):366-9. PubMed ID: 3612708
    [Abstract] [Full Text] [Related]

  • 4. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
    Fiedler J, Frances AM, Le Merrer M, Richter M, Brenner RE.
    Spine (Phila Pa 1976); 2003 Nov 15; 28(22):E478-82. PubMed ID: 14624098
    [Abstract] [Full Text] [Related]

  • 5. Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.
    Rajab A, Kunze J, Mundlos S.
    Am J Med Genet A; 2004 May 01; 126A(4):413-9. PubMed ID: 15098240
    [Abstract] [Full Text] [Related]

  • 6. Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.
    Huson SM, Crowley S, Hall CM, Supramaniam G, Winter RM.
    Clin Dysmorphol; 1993 Jan 01; 2(1):20-7. PubMed ID: 8298734
    [Abstract] [Full Text] [Related]

  • 7. Spondyloepiphyseal dysplasia tarda in Turner syndrome.
    Massa G, Vanderschueren-Lodeweyckx M.
    Acta Paediatr Scand; 1989 Nov 01; 78(6):971-4. PubMed ID: 2603728
    [Abstract] [Full Text] [Related]

  • 8. X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
    Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY.
    Ann Lab Med; 2012 May 01; 32(3):234-7. PubMed ID: 22563562
    [Abstract] [Full Text] [Related]

  • 9. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.
    Whyte MP, Gottesman GS, Eddy MC, McAlister WH.
    Medicine (Baltimore); 1999 Jan 01; 78(1):9-25. PubMed ID: 9990351
    [Abstract] [Full Text] [Related]

  • 10. Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
    MacDermot KD, Roth SC, Hall C, Winter RM.
    J Med Genet; 1987 Oct 01; 24(10):602-8. PubMed ID: 3681905
    [Abstract] [Full Text] [Related]

  • 11. A family with multiple musculoskeletal abnormalities.
    Barber KE, Gow PJ, Mayo KM.
    Ann Rheum Dis; 1984 Apr 01; 43(2):275-8. PubMed ID: 6424589
    [Abstract] [Full Text] [Related]

  • 12. Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
    Kocyigit H, Arkun R, Ozkinay F, Cogulu O, Hizli N, Memis A.
    Clin Rheumatol; 2000 Apr 01; 19(3):238-41. PubMed ID: 10870664
    [Abstract] [Full Text] [Related]

  • 13. Spondyloepiphyseal dysplasia tarda. The autosomal recessive form in two sisters.
    Ikegawa S.
    Arch Orthop Trauma Surg; 1993 Apr 01; 113(1):49-52. PubMed ID: 8117511
    [Abstract] [Full Text] [Related]

  • 14. [Genetic study of eight cases of spondylo-epiphyseal dysplasia tarda and its autosomal recessive transmission].
    Chaabouni H, Douiri H, Abdelkefi MM, Miladi M, Slimane N, Ferchiou A.
    J Genet Hum; 1986 Aug 01; 34(3-4):275-84. PubMed ID: 3760831
    [Abstract] [Full Text] [Related]

  • 15. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct 01; 36(10):1004-8. PubMed ID: 26183434
    [Abstract] [Full Text] [Related]

  • 16. [Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Apropos of 3 cases].
    Miladi M, Elleuch MH, Sellami S, Douik M.
    Int Orthop; 1987 Oct 01; 11(3):271-5. PubMed ID: 3623766
    [Abstract] [Full Text] [Related]

  • 17. [Spondyloepiphyseal dysplasia tarda with progressive arthropathy: 2 siblings affected].
    Díaz-Mares L, González-del Angel A, Gutiérrez-Castrellón P, Takenaga-Mesquida R, Carnevale A.
    Bol Med Hosp Infant Mex; 1992 Oct 01; 49(10):678-82. PubMed ID: 1449627
    [Abstract] [Full Text] [Related]

  • 18. Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.
    Legius E, Mulier M, Van Damme B, Fryns JP.
    Clin Genet; 1993 Sep 01; 44(3):152-5. PubMed ID: 8275575
    [Abstract] [Full Text] [Related]

  • 19. Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission.
    Schantz K, Andersen PE, Justesen P.
    Acta Orthop Scand; 1988 Dec 01; 59(6):716-9. PubMed ID: 3213464
    [Abstract] [Full Text] [Related]

  • 20. Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.
    Kozlowski K, Meradji M, Beemer FA.
    Australas Radiol; 1995 Aug 01; 39(3):282-6. PubMed ID: 7487766
    [Abstract] [Full Text] [Related]

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