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Journal Abstract Search

289 related items for PubMed ID: 3681905

  • 1. 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; 24(10):602-8. PubMed ID: 3681905
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  • 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 Oct; 7(3):187-91. PubMed ID: 8897039
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  • 3. Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness.
    Beighton P, Goldberg L, Hof JO.
    Clin Genet; 1978 Sep; 14(3):173-7. PubMed ID: 699354
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  • 4. New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.
    Reardon W, Hall CM, Shaw DG, Kendall B, Hayward R, Winter RM.
    Am J Med Genet; 1994 Oct 01; 52(4):432-7. PubMed ID: 7747755
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  • 5. A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?
    Farag TI, Al-Awadi SA, Hunt MC, Satyanath S, Zahran M, Usha R, Uma R.
    J Med Genet; 1987 Oct 01; 24(10):597-601. PubMed ID: 3681904
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  • 6. Spondyloperipheral dysplasia.
    Sorge G, Ruggieri M, Lachman RS.
    Am J Med Genet; 1995 Nov 06; 59(2):139-42. PubMed ID: 8588574
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  • 8. Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission.
    Schantz K, Andersen PE, Justesen P.
    Acta Orthop Scand; 1988 Dec 06; 59(6):716-9. PubMed ID: 3213464
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  • 9. Spondyloepiphyseal dysplasia congenita: report of one case.
    Lai SW, Tsai FJ, Tan CK, Lin CC, Peng CT, Tsai CH.
    Acta Paediatr Taiwan; 1999 Dec 06; 40(3):189-91. PubMed ID: 10910613
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  • 10. On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene.
    Alembik Y, Stoll C, Messer J.
    Genet Couns; 1997 Dec 06; 8(2):133-7. PubMed ID: 9219012
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  • 14. [Polyarthritic manifestations revealing Stickler syndrome].
    Hakim H, Elloumi M, Ben Salem M, Karray S, Baklouti S.
    J Radiol; 2002 Dec 06; 83(12 Pt 1):1856-8. PubMed ID: 12511844
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  • 17. [Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie].
    Mostert AK, Dijkstra PF, Van Horn JR, Jansen BR, Heutink P, Lindhout D.
    Rofo; 2002 Jul 06; 174(7):887-92. PubMed ID: 12101480
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  • 18. [Leri-Weill syndrome (dyschondrosteosis). Description of 2 clinical cases].
    Radetti G, Pasquino B, Munari E, Mengarda G.
    Pediatr Med Chir; 1987 Jul 06; 9(3):367-70. PubMed ID: 3671136
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  • 19. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
    Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S.
    Am J Hum Genet; 2006 Sep 06; 79(3):449-57. PubMed ID: 16909383
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  • 20. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.
    Marik I, Marikova O, Zemkova D, Kuklik M, Kozlowski K.
    Skeletal Radiol; 2004 Mar 06; 33(3):157-64. PubMed ID: 14730409
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