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Journal Abstract Search

122 related items for PubMed ID: 12476457

  • 1. Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
    Hoo JJ, Oliphant M.
    Am J Med Genet A; 2003 Jan 01; 116A(1):80-4. PubMed ID: 12476457
    [Abstract] [Full Text] [Related]

  • 2. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    Tüysüz B, Ungür S.
    Am J Med Genet A; 2003 Jun 15; 119A(3):375-80. PubMed ID: 12784309
    [Abstract] [Full Text] [Related]

  • 3. Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.
    Horton WA, Langer LO, Collins DL, Dwyer C.
    Am J Med Genet; 1983 Oct 15; 16(2):201-11. PubMed ID: 6650565
    [Abstract] [Full Text] [Related]

  • 4. Brachyolmia and spinal stenosis.
    Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413
    [Abstract] [Full Text] [Related]

  • 5. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
    Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.
    Hum Mutat; 2013 Oct 15; 34(10):1381-6. PubMed ID: 23824674
    [Abstract] [Full Text] [Related]

  • 6. Brachyolmia: radiographic and genetic evidence of heterogeneity.
    Shohat M, Lachman R, Gruber HE, Rimoin DL.
    Am J Med Genet; 1989 Jun 15; 33(2):209-19. PubMed ID: 2669482
    [Abstract] [Full Text] [Related]

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

  • 8. A case of brachyolmia.
    Karabiyik N, Oğuz F, Sidal M, Hekim N, Kayserili H.
    Turk J Pediatr; 1997 Jun 15; 39(3):415-20. PubMed ID: 9339123
    [Abstract] [Full Text] [Related]

  • 9. Brachyolmia: a report of two cases.
    Ikegawa S, Nakamura K, Nakamura S, Nagano A.
    J Pediatr Orthop; 1995 Jun 15; 15(1):105-7. PubMed ID: 7883917
    [Abstract] [Full Text] [Related]

  • 10. [Brachyolmia at autosomal recessive transmission].
    Soua H, Sassi N, Karboul L, Ayadi A, Boussoffara R, Belkhir Y, Lengliz N, Hamza H, Sfar MT, Maroteaux P.
    Arch Pediatr; 1994 May 15; 1(5):505-7. PubMed ID: 7951838
    [Abstract] [Full Text] [Related]

  • 11. Sib pair with previously unreported skeletal dysplasia.
    Mégarbané A, Dagher R, Melki I.
    Am J Med Genet A; 2008 Nov 15; 146A(22):2916-9. PubMed ID: 18925669
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. A probable new type of osteopenic bone disease.
    Widhe TL.
    Pediatr Radiol; 2002 Jun 15; 32(6):447-51. PubMed ID: 12029347
    [Abstract] [Full Text] [Related]

  • 14. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.
    Rezza E, Iannaccone G, Lendvai D.
    Pediatr Radiol; 1984 Jun 15; 14(5):323-7. PubMed ID: 6472918
    [Abstract] [Full Text] [Related]

  • 15. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
    Borochowitz Z, Langer LO, Gruber HE, Lachman R, Katznelson MB, Rimoin DL.
    Am J Med Genet; 1993 Feb 01; 45(3):320-6. PubMed ID: 8434618
    [Abstract] [Full Text] [Related]

  • 16. Acromesomelic dysplasia.
    Langer LO, Garrett RT.
    Radiology; 1980 Nov 01; 137(2):349-55. PubMed ID: 7433666
    [Abstract] [Full Text] [Related]

  • 17. Sponastrime dysplasia. A radiologic-pathologic correlation.
    Lachman RS, Stoss H, Spranger J.
    Pediatr Radiol; 1989 Nov 01; 19(6-7):417-24. PubMed ID: 2771481
    [Abstract] [Full Text] [Related]

  • 18. A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
    Mégarbané A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V.
    Am J Med Genet A; 2014 Apr 01; 164A(4):1010-4. PubMed ID: 24458487
    [Abstract] [Full Text] [Related]

  • 19. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.
    Fanconi S, Issler C, Giedion A, Prader A.
    Helv Paediatr Acta; 1983 Aug 01; 38(3):267-80. PubMed ID: 6618893
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
    Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O.
    Am J Med Genet A; 2014 Jul 01; 164A(7):1635-41. PubMed ID: 24677493
    [Abstract] [Full Text] [Related]

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