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Journal Abstract Search

257 related items for PubMed ID: 12416645

  • 1. Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?
    Ioan DM, Fryns JP.
    Genet Couns; 2002; 13(3):353-6. PubMed ID: 12416645
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  • 2. Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
    Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G.
    Am J Med Genet; 1993 Aug 15; 47(2):176-83. PubMed ID: 8213903
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  • 4. Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
    Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns JP.
    Genet Couns; 2005 Aug 15; 16(2):167-71. PubMed ID: 16080297
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  • 5. [Coffin-Lowry syndrome and hyperprolinemia].
    Lacombe D, Parrot-Roulaud F, Castell JF, Serville F, Hehunstre JP, Battin J.
    Arch Fr Pediatr; 1993 Aug 15; 50(6):489-92. PubMed ID: 8135609
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  • 7. Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.
    Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC.
    Am J Med Genet; 1999 Nov 05; 87(1):36-9. PubMed ID: 10528244
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  • 12. Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.
    Horn D, Schottmann G, Meinecke P.
    Eur J Med Genet; 2010 Nov 05; 53(2):85-8. PubMed ID: 20080219
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  • 13. Elastic fiber degeneration in Costello syndrome.
    Mori M, Yamagata T, Mori Y, Nokubi M, Saito K, Fukushima Y, Momoi MY.
    Am J Med Genet; 1996 Feb 02; 61(4):304-9. PubMed ID: 8834040
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  • 14. Costello syndrome.
    Der Kaloustian VM, Moroz B, McIntosh N, Watters AK, Blaichman S.
    Am J Med Genet; 1991 Oct 01; 41(1):69-73. PubMed ID: 1951465
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  • 15. Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.
    Fryns JP, Vogels A, Haegeman J, Eggermont E, van den Berghe H.
    Genet Couns; 1994 Oct 01; 5(4):337-43. PubMed ID: 7888135
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  • 16. Genetics of the Costello syndrome.
    Lurie IW.
    Am J Med Genet; 1994 Sep 01; 52(3):358-9. PubMed ID: 7528974
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  • 17. Pitt-Rogers-Danks syndrome: further delineation.
    Lizcano-Gil LA, García-Cruz D, García-Cruz O, Sánchez-Corona J.
    Am J Med Genet; 1995 Feb 13; 55(4):420-2. PubMed ID: 7762580
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  • 18. New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
    Tsukahara M, Sugio Y.
    J Hum Genet; 1998 Feb 13; 43(4):224-7. PubMed ID: 9852671
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  • 19. Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).
    Koppe R, Kaplan P, Hunter A, MacMurray B.
    Am J Med Genet; 1989 Nov 13; 34(3):305-12. PubMed ID: 2596519
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  • 20. The Dubowitz syndrome--one more case.
    Chrzanowska KH, Krajewska-Walasek M.
    Klin Padiatr; 1987 Nov 13; 199(5):370-2. PubMed ID: 3316825
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