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Journal Abstract Search

151 related items for PubMed ID: 8275575

  • 41. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.
    Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J.
    Am J Med Genet; 1998 Apr 28; 77(1):1-7. PubMed ID: 9557884
    [Abstract] [Full Text] [Related]

  • 42. Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family.
    Sener RN, Ustun EE, Ozkinay C, Memis A, Oyar O.
    Pediatr Radiol; 1993 Apr 28; 23(4):321-4. PubMed ID: 8414767
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  • 43. 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 28; 24(6):366-9. PubMed ID: 3612708
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  • 44. Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis.
    Spranger J, Albert C, Schilling F, Bartsocas C, Stöss H.
    Eur J Pediatr; 1983 Mar 28; 140(1):34-40. PubMed ID: 6873109
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  • 45. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.
    el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J.
    Eur J Hum Genet; 1998 Mar 28; 6(3):251-6. PubMed ID: 9781029
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  • 46. Progressive pseudorheumatoid arthritis (report of five cases with brief literature review).
    Kozlowski K, Lewis IC, Kennedy J, Mulcahy D.
    Paediatr Indones; 1985 Mar 28; 25(11-12):237-44. PubMed ID: 4094782
    [No Abstract] [Full Text] [Related]

  • 47. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
    Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB.
    Am J Med Genet A; 2020 Nov 28; 182(11):2715-2721. PubMed ID: 32856782
    [Abstract] [Full Text] [Related]

  • 48. Spondyloenchondrodysplasia: clinical variability in three cases.
    Tüysüz B, Arapoglu M, Ungür S.
    Am J Med Genet A; 2004 Jul 15; 128A(2):185-9. PubMed ID: 15214014
    [Abstract] [Full Text] [Related]

  • 49. Familial brachyolmia.
    Darcan S, Yalman O, Coker M, Demir N, Ozkinay F.
    J Pediatr Endocrinol Metab; 2000 Jul 15; 13(7):955-8. PubMed ID: 10968486
    [Abstract] [Full Text] [Related]

  • 50. 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]

  • 51. [Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease].
    Rasore-Quartino A, Camera A, Camera G.
    Pathologica; 1993 May 01; 85(1096):225-31. PubMed ID: 8361786
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  • 54. 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]

  • 55. Spondylo-epiphyseal dysplasia tarda with progressive arthropathy mimicking juvenile chronic arthritis.
    Byrne PA, Rajan KT.
    Br J Rheumatol; 1998 Feb 01; 37(2):233-4. PubMed ID: 9569085
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  • 58. 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]

  • 59. Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda.
    Yang F, Xu HQ, Li CL, Yang JG.
    Clin Nucl Med; 2012 Feb 01; 37(2):193-5. PubMed ID: 22228351
    [Abstract] [Full Text] [Related]

  • 60. Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
    Kaibara N, Takagishi K, Katsuki I, Eguchi M, Masumi S, Nishio A.
    Skeletal Radiol; 1983 Feb 01; 10(1):13-6. PubMed ID: 6410512
    [Abstract] [Full Text] [Related]

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