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Journal Abstract Search

190 related items for PubMed ID: 16141486

  • 1. Acrodysostosis: autosomal dominant transmission.
    Sheela SR, Perti A, Thomas G.
    Indian Pediatr; 2005 Aug; 42(8):822-6. PubMed ID: 16141486
    [Abstract] [Full Text] [Related]

  • 2. Acrodysostosis in two generations: an autosomal dominant syndrome.
    Hernández RM, Miranda A, Kofman-Alfaro S.
    Clin Genet; 1991 May; 39(5):376-82. PubMed ID: 1860254
    [Abstract] [Full Text] [Related]

  • 3. Autosomal dominant transmission of acrodysostosis.
    Steiner RD, Pagon RA.
    Clin Dysmorphol; 1992 Oct; 1(4):201-6. PubMed ID: 1342871
    [Abstract] [Full Text] [Related]

  • 4. [Acrodysostosis: an autosomal inherited form of peripheral dysostosis].
    Becker S, Mausolf A, Laszig R.
    HNO; 1989 Apr; 37(4):165-8. PubMed ID: 2722579
    [Abstract] [Full Text] [Related]

  • 5. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
    Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.
    Eur J Hum Genet; 2018 Nov; 26(11):1611-1622. PubMed ID: 30006632
    [Abstract] [Full Text] [Related]

  • 6. Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.
    Butler MG, Rames LJ, Wadlington WB.
    Am J Med Genet; 1988 Aug; 30(4):971-80. PubMed ID: 3055990
    [Abstract] [Full Text] [Related]

  • 7. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P.
    Genet Couns; 1993 Aug; 4(2):147-51. PubMed ID: 8395190
    [Abstract] [Full Text] [Related]

  • 8. Anophthalmia-Waardenburg syndrome: a report of three cases.
    Suyugül Z, Seven M, Hacihanefioğlu S, Kartal A, Suyugül N, Cenani A.
    Am J Med Genet; 1996 Apr 24; 62(4):391-7. PubMed ID: 8723070
    [Abstract] [Full Text] [Related]

  • 9. Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.
    Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL.
    Am J Dis Child; 1971 Mar 24; 121(3):195-203. PubMed ID: 5551869
    [No Abstract] [Full Text] [Related]

  • 10. A boy with severe manifestations of type A1 brachydactyly.
    Slavotinek A, Donnai D.
    Clin Dysmorphol; 1998 Jan 24; 7(1):21-7. PubMed ID: 9546826
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