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Journal Abstract Search

200 related items for PubMed ID: 14566439

  • 1. Recessive omodysplasia: five new cases and review of the literature.
    Elçioglu NH, Gustavson KH, Wilkie AO, Yüksel-Apak M, Spranger JW.
    Pediatr Radiol; 2004 Jan; 34(1):75-82. PubMed ID: 14566439
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive omodysplasia: report of three additional cases.
    Masel JP, Kozlowski K, Kiss P.
    Pediatr Radiol; 1998 Aug; 28(8):608-11. PubMed ID: 9716634
    [Abstract] [Full Text] [Related]

  • 3. Omodysplasia.
    Maroteaux P, Sauvegrain J, Chrispin A, Farriaux JP.
    Am J Med Genet; 1989 Mar; 32(3):371-5. PubMed ID: 2729357
    [Abstract] [Full Text] [Related]

  • 4. Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
    Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A.
    Am J Med Genet A; 2018 Mar; 176(3):739-742. PubMed ID: 29383834
    [Abstract] [Full Text] [Related]

  • 5. Omodysplasia: an affected mother and son.
    Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH.
    Am J Med Genet; 2002 Aug 01; 111(2):169-77. PubMed ID: 12210345
    [Abstract] [Full Text] [Related]

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  • 8. Metacarpophalangeal pattern profile analysis in diastrophic dysplasia.
    Butler MG, Gale DD, Meaney FJ.
    Am J Med Genet; 1987 Nov 01; 28(3):685-9. PubMed ID: 3425635
    [Abstract] [Full Text] [Related]

  • 9. Autosomal recessive omodysplasia.
    Stoll C, Pennerath A, Poirat P.
    Ann Genet; 1995 Nov 01; 38(2):97-101. PubMed ID: 7486832
    [Abstract] [Full Text] [Related]

  • 10. Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.
    Bayat A, Dunø M, Kirchhoff M, Jørgensen FS, Nishimura G, Hove HB.
    Mol Syndromol; 2020 Jun 01; 11(2):83-89. PubMed ID: 32655339
    [Abstract] [Full Text] [Related]

  • 11. Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.
    Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafé L, Francis DI, Savarirayan R.
    Am J Med Genet A; 2005 Jun 15; 135(3):324-7. PubMed ID: 15887278
    [Abstract] [Full Text] [Related]

  • 12. Atelosteogenesis.
    Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF.
    Am J Med Genet; 1982 Sep 15; 13(1):15-25. PubMed ID: 7137218
    [Abstract] [Full Text] [Related]

  • 13. Osteochondrodystrophies with marked platyspondyly and distinctive peripheral anomalies.
    Kozlowski K, Bieganski T, Gardner J, Beighton P.
    Pediatr Radiol; 1999 Jan 15; 29(1):1-5. PubMed ID: 9880606
    [Abstract] [Full Text] [Related]

  • 14. Sponastrime dysplasia: five new cases and review of nine previously published cases.
    Langer LO, Beals RK, LaFranchi S, Scott CI, Sockalosky JJ.
    Am J Med Genet; 1996 May 03; 63(1):20-7. PubMed ID: 8723082
    [Abstract] [Full Text] [Related]

  • 15. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
    Menger H, Mundlos S, Becker K, Spranger J, Zabel B.
    Am J Med Genet; 1996 May 03; 63(1):80-3. PubMed ID: 8723091
    [Abstract] [Full Text] [Related]

  • 16. Spondyloenchondrodysplasia.
    Menger H, Kruse K, Spranger J.
    J Med Genet; 1989 Feb 03; 26(2):93-9. PubMed ID: 2918547
    [Abstract] [Full Text] [Related]

  • 17. Omodysplasia: the first reported Brazilian case.
    Albano LM, Oliveira LA, Bertola DR, Mazzu JF, Kim CA.
    Clinics (Sao Paulo); 2007 Aug 03; 62(4):531-4. PubMed ID: 17823719
    [No Abstract] [Full Text] [Related]

  • 18. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996 Aug 03; 7(3):219-25. PubMed ID: 8897044
    [Abstract] [Full Text] [Related]

  • 19. The value of perinatal post-mortem radiography. Experience of 514 cases.
    Seppänen U.
    Ann Clin Res; 1985 Aug 03; 17 Suppl 44():1-59. PubMed ID: 3159330
    [Abstract] [Full Text] [Related]

  • 20. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
    Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.
    Am J Med Genet A; 2006 Jun 01; 140(11):1189-95. PubMed ID: 16637051
    [Abstract] [Full Text] [Related]

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