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Journal Abstract Search

226 related items for PubMed ID: 12116214

  • 1. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
    Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S.
    Am J Med Genet; 2002 Jul 15; 110(4):384-90. PubMed ID: 12116214
    [Abstract] [Full Text] [Related]

  • 2. The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.
    McMahon CJ, Reardon W.
    Cardiol Young; 2006 Feb 15; 16(1):30-3. PubMed ID: 16454874
    [Abstract] [Full Text] [Related]

  • 3. Phenotypic discordance in monozygotic twins with 22q11.2 deletion.
    Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N.
    Am J Med Genet; 1998 Jul 24; 78(4):319-21. PubMed ID: 9714432
    [Abstract] [Full Text] [Related]

  • 4. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
    Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H.
    Am J Med Genet; 1988 Nov 24; 31(3):565-89. PubMed ID: 3067577
    [Abstract] [Full Text] [Related]

  • 5. Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
    Wouters L, Rodriguez Rodriguez CM, Dapena EP, Poorten VV, Devriendt K, Van Esch H.
    Eur J Med Genet; 2011 Nov 24; 54(3):236-40. PubMed ID: 21262397
    [Abstract] [Full Text] [Related]

  • 6. Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).
    Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM.
    Ophthalmic Genet; 2005 Dec 24; 26(4):181-3. PubMed ID: 16352479
    [Abstract] [Full Text] [Related]

  • 7. [Monozygotic twins with Williams-Beuren or 'elfen-face' syndrome].
    Oorthuys JW.
    Tijdschr Kindergeneeskd; 1984 Oct 24; 52(5):197-200. PubMed ID: 6542697
    [Abstract] [Full Text] [Related]

  • 8. [Kabuki make-up syndrome. A report of 18 Spanish cases].
    Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Palencia R.
    Rev Neurol; 1984 Oct 24; 40(8):473-8. PubMed ID: 15861328
    [Abstract] [Full Text] [Related]

  • 9. Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.
    Maróti Z, Kutsche K, Sutajova M, Gal A, Nothwang HG, Czeizel AE, Tímár L, Sólyom E.
    Am J Med Genet; 2002 May 01; 109(3):234-7. PubMed ID: 11977185
    [No Abstract] [Full Text] [Related]

  • 10. [Kabuki syndrome, a congenital syndrome with multiple anomalies].
    den Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, Katsaros C.
    Ned Tijdschr Tandheelkd; 2006 Dec 01; 113(12):516-9. PubMed ID: 17193989
    [Abstract] [Full Text] [Related]

  • 11. Kabuki syndrome: a review.
    Adam MP, Hudgins L.
    Clin Genet; 2005 Mar 01; 67(3):209-19. PubMed ID: 15691356
    [Abstract] [Full Text] [Related]

  • 12. Head circumference of children with Williams-Beuren syndrome.
    Pankau R, Partsch CJ, Neblung A, Gosch A, Wessel A.
    Am J Med Genet; 1994 Sep 01; 52(3):285-90. PubMed ID: 7528970
    [Abstract] [Full Text] [Related]

  • 13. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.
    Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL.
    Am J Med Genet; 1995 Nov 20; 59(3):276-82. PubMed ID: 8599349
    [Abstract] [Full Text] [Related]

  • 14. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.
    Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D.
    Clin Dysmorphol; 1992 Apr 20; 1(2):63-77. PubMed ID: 1285376
    [Abstract] [Full Text] [Related]

  • 15. Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.
    Van Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP.
    Genet Couns; 1996 Apr 20; 7(3):201-6. PubMed ID: 8897041
    [Abstract] [Full Text] [Related]

  • 16. Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?
    Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M.
    Birth Defects Res A Clin Mol Teratol; 2003 Jun 20; 67(6):460-6. PubMed ID: 12962292
    [Abstract] [Full Text] [Related]

  • 17. Monozygotic twins discordant for the Russell-Silver syndrome.
    Bailey W, Popovich B, Jones KL.
    Am J Med Genet; 1995 Aug 28; 58(2):101-5. PubMed ID: 8533797
    [Abstract] [Full Text] [Related]

  • 18. 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 28; 16(2):167-71. PubMed ID: 16080297
    [Abstract] [Full Text] [Related]

  • 19. Kabuki Syndrome with additional dental findings: a case report.
    Cogulu D, Oncag O, Celen E, Ozkinay F.
    J Dent Child (Chic); 2008 Aug 28; 75(2):185-7. PubMed ID: 18647516
    [Abstract] [Full Text] [Related]

  • 20. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.
    Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P.
    Am J Med Genet; 1993 Sep 01; 47(3):423-5. PubMed ID: 8135293
    [Abstract] [Full Text] [Related]

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