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PUBMED FOR HANDHELDS

Journal Abstract Search


183 related items for PubMed ID: 14679586

  • 1. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
    Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R.
    Am J Med Genet A; 2004 Jan 01; 124A(1):48-53. PubMed ID: 14679586
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  • 4. A novel syndrome resembling Desbuquois dysplasia.
    Al Kaissi A, Nessib N, Ghachem MB, Hammou A, Guiddana N, Kozlowski K.
    Am J Med Genet A; 2005 Jan 01; 132A(1):68-75. PubMed ID: 15558723
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  • 6. Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.
    Eddy MC, Steiner RD, McAlister WH, Whyte MP.
    Am J Med Genet; 1998 May 18; 77(3):182-7. PubMed ID: 9605584
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  • 8. Atelosteogenesis.
    Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF.
    Am J Med Genet; 1982 Sep 18; 13(1):15-25. PubMed ID: 7137218
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  • 9. Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.
    Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S.
    Pediatr Int; 2014 Aug 18; 56(4):e26-9. PubMed ID: 25252066
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  • 11. 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
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  • 12. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
    Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A.
    Am J Med Genet A; 2010 Apr 01; 152A(4):875-85. PubMed ID: 20358597
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  • 13. Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome.
    Hennekam RC, Van Den Boogaard MJ, Dijkstra PF, Van de Kamp JJ.
    Am J Med Genet Suppl; 1990 Apr 01; 6():48-50. PubMed ID: 2118778
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  • 14. Desbuquois syndrome: clinical, radiographic, and morphologic characterization.
    Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL.
    Am J Med Genet; 1994 Aug 01; 52(1):9-18. PubMed ID: 7977470
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  • 15. A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?
    Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N.
    Eur J Pediatr; 1996 Dec 01; 155(12):1040-2. PubMed ID: 8956941
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  • 17. Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity.
    Nakamura S, Haga N, Shimode M, Taniguchi K, Ikegawa S, Iwaya T.
    Clin Dysmorphol; 1999 Jul 01; 8(3):189-92. PubMed ID: 10457852
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  • 18. Fibrochondrogenesis: clinical and radiological features.
    al-Gazali LI, Bakalinova D, Bakir M, Dawodu A.
    Clin Dysmorphol; 1997 Apr 01; 6(2):157-63. PubMed ID: 9134297
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