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Journal Abstract Search

226 related items for PubMed ID: 12784309

  • 1. 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]

  • 2. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
    Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P, Deciphering Developmental Disorders StudyWellcome Sanger Institute, Cambridge, UK., Smithson S.
    Am J Med Genet A; 2019 Sep 15; 179(9):1884-1894. PubMed ID: 31313512
    [Abstract] [Full Text] [Related]

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

  • 4. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
    Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH.
    Am J Med Genet; 1998 Aug 06; 78(5):468-73. PubMed ID: 9714015
    [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 06; 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 06; 33(2):209-19. PubMed ID: 2669482
    [Abstract] [Full Text] [Related]

  • 7. A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
    Verloes A, Jamblin P, Koulischer L, Bourguignon JP.
    Clin Genet; 1996 Jan 06; 49(1):2-5. PubMed ID: 8721563
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. PAPSS2 mutations cause autosomal recessive brachyolmia.
    Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.
    J Med Genet; 2012 Aug 15; 49(8):533-8. PubMed ID: 22791835
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. [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 01; 1(5):505-7. PubMed ID: 7951838
    [Abstract] [Full Text] [Related]

  • 13. A case of brachyolmia.
    Karabiyik N, Oğuz F, Sidal M, Hekim N, Kayserili H.
    Turk J Pediatr; 1997 May 01; 39(3):415-20. PubMed ID: 9339123
    [Abstract] [Full Text] [Related]

  • 14. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
    Shalev SA, Spiegel R, Borochowitz ZU.
    Eur J Med Genet; 2012 Apr 01; 55(4):256-64. PubMed ID: 22440536
    [Abstract] [Full Text] [Related]

  • 15. Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.
    Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M.
    Am J Med Genet A; 2013 Jun 01; 161A(6):1300-8. PubMed ID: 23633440
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. 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]

  • 19. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
    Mollaoğlu E, Uludağ Alkaya D, Yıldız CA, Kasap B, Tüysüz B.
    Clin Genet; 2023 May 01; 103(5):574-579. PubMed ID: 36504352
    [Abstract] [Full Text] [Related]

  • 20. Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.
    Horton WA, Langer LO, Collins DL, Dwyer C.
    Am J Med Genet; 1983 Oct 01; 16(2):201-11. PubMed ID: 6650565
    [Abstract] [Full Text] [Related]

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