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Journal Abstract Search

151 related items for PubMed ID: 2603728

  • 21. Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.
    Mumm S, Zhang X, Gottesman GS, McAlister WH, Whyte MP.
    J Bone Miner Res; 2001 Dec; 16(12):2245-50. PubMed ID: 11760838
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  • 30. An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
    Takahashi T, Takahashi I, Tsuchida S, Oyama K, Komatsu M, Saito H, Takada G.
    Clin Genet; 2002 Apr; 61(4):319-20. PubMed ID: 12030902
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  • 31. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
    Nevin NC, Thomas PS, Hutchinson J.
    Am J Med Genet; 1986 May; 24(1):33-9. PubMed ID: 3706411
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  • 33. Familial Turner syndrome.
    Verschraegen-Spae MR, Depypere H, Speleman F, Dhondt M, De Paepe A.
    Clin Genet; 1992 Apr; 41(4):218-20. PubMed ID: 1576760
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  • 35. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.
    Gilbert B, Yardin C, Briault S, Belin V, Lienhardt A, Aubard Y, Battin J, Servaud M, Philippe HJ, Lacombe D.
    Prenat Diagn; 2002 Aug; 22(8):697-702. PubMed ID: 12210579
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  • 37. Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission.
    Schantz K, Andersen PE, Justesen P.
    Acta Orthop Scand; 1988 Dec; 59(6):716-9. PubMed ID: 3213464
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  • 38. Spondyloepiphyseal dysplasia tarda simulating juvenile arthritis: clinical and molecular genetic observations.
    Lewkonia RM, Bech-Hansen NT.
    Clin Exp Rheumatol; 1992 Dec; 10(4):411-4. PubMed ID: 1395225
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  • 39. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.
    MacKenzie JJ, Fitzpatrick J, Babyn P, Ferrero GB, Ballabio A, Billingsley G, Bulman DE, Strasberg P, Ray PN, Costa T.
    J Med Genet; 1996 Oct; 33(10):823-8. PubMed ID: 8933334
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  • 40. [Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].
    Wang HL, Gao C, Luo Q, Sheng GY, Zhou JH, Gao TZ, Peng S, Lu JP.
    Zhonghua Er Ke Za Zhi; 2003 Apr; 41(4):256-9. PubMed ID: 14754526
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