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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]
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 15; 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 15; 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 15; 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 15; 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 15; 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]
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] Page: [Next] [New Search]