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Journal Abstract Search

145 related items for PubMed ID: 13680008

  • 1. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.
    Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK.
    Pediatr Radiol; 2003 Dec; 33(12):893-6. PubMed ID: 13680008
    [Abstract] [Full Text] [Related]

  • 2. Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia.
    Silverman FN, Reiley MA.
    Radiology; 1985 Aug; 156(2):365-71. PubMed ID: 3925497
    [Abstract] [Full Text] [Related]

  • 3. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
    Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A.
    Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):230-7. PubMed ID: 22791571
    [Abstract] [Full Text] [Related]

  • 4. A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type".
    Sharma BG.
    Skeletal Radiol; 2003 Feb 15; 32(2):111-5. PubMed ID: 12589493
    [Abstract] [Full Text] [Related]

  • 5. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).
    Kozlowski K, Robben S, Bellemore M, Sillence D, Zonderland H.
    Radiol Med; 1993 Feb 15; 85(1-2):7-11. PubMed ID: 8480052
    [Abstract] [Full Text] [Related]

  • 6. A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.
    Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K.
    Eur J Med Genet; 2019 Jan 15; 62(1):21-26. PubMed ID: 29704686
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 8(3):189-92. PubMed ID: 10457852
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
    Fryns JP, Lorenzetti ME, Maroteaux P, Van den Berghe H.
    Am J Med Genet; 1996 Jan 11; 61(2):164-7. PubMed ID: 8669445
    [Abstract] [Full Text] [Related]

  • 10. Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome.
    Rybak M, Foley TP, Kozlowski K.
    Am J Med Genet; 1991 Sep 01; 40(3):304-6. PubMed ID: 1951433
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  • 13. A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases.
    Kozlowski K, Bacha L, Massen R, Ayati M, Sator S, Brahimi L.
    Pediatr Radiol; 1988 Sep 01; 18(3):221-6. PubMed ID: 3368247
    [Abstract] [Full Text] [Related]

  • 14. Hearing loss in oto-spondylo-megaepiphyseal dysplasia (OSMED): case studies.
    Katbamna B, Westbrook MK.
    J Am Acad Audiol; 1996 Oct 01; 7(5):365-9. PubMed ID: 8898273
    [Abstract] [Full Text] [Related]

  • 15. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
    Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G.
    Am J Hum Genet; 2009 Dec 01; 85(6):916-22. PubMed ID: 20004766
    [Abstract] [Full Text] [Related]

  • 16. Oto-spondylo-megaepiphyseal dysplasia (OSMED).
    Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymüller E.
    Helv Paediatr Acta; 1982 Sep 01; 37(4):361-80. PubMed ID: 7153059
    [Abstract] [Full Text] [Related]

  • 17. A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
    Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.
    Hum Genet; 2005 Nov 01; 118(2):175-8. PubMed ID: 16189708
    [Abstract] [Full Text] [Related]

  • 18. Japanese type of spondylo-metaphyseal dysplasia.
    Hasegawa T, Kozlowski K, Nishimura G, Hara H, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y.
    Pediatr Radiol; 1994 Nov 01; 24(3):194-7. PubMed ID: 7936797
    [Abstract] [Full Text] [Related]

  • 19. Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia.
    Al Kaissi A, Ghachem MB, Nessib N, Chehida FB, Hammou A, Kozlowski K.
    Australas Radiol; 2005 Feb 01; 49(1):57-62. PubMed ID: 15727611
    [Abstract] [Full Text] [Related]

  • 20. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Smithson SF, Grier D, Hall CM.
    Clin Dysmorphol; 2009 Jan 01; 18(1):31-35. PubMed ID: 19050402
    [Abstract] [Full Text] [Related]

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