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Journal Abstract Search
149 related items for PubMed ID: 9202862
41. Tetralogy of Fallot in a patient with Killian-Pallister syndrome. Grech V, Parascandalo R, Cuschieri A. Pediatr Cardiol; 1999; 20(2):134-5. PubMed ID: 9986890 [Abstract] [Full Text] [Related]
42. Cardio-facio-cutaneous syndrome: three additional cases and review of the literature. Somer M, Peippo M, Aalto-Korte K, Ritvanen A, Niemi KM. Am J Med Genet; 1992 Nov 15; 44(5):691-5. PubMed ID: 1481834 [Abstract] [Full Text] [Related]
43. CFC syndrome: report on three additional cases. Sorge G, Di Forti F, Scarano G, Ventruto V, Zelante L, Dallapiccola B. Am J Med Genet; 1989 Aug 15; 33(4):476-8. PubMed ID: 2596507 [Abstract] [Full Text] [Related]
44. Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. McLean SD, Saal HM, Spinner NB, Emanuel BS, Driscoll DA. Am J Dis Child; 1993 Nov 15; 147(11):1212-6. PubMed ID: 8237917 [Abstract] [Full Text] [Related]
45. A patient with 9q subtelomeric deletion syndrome with additional findings. Tug E, Cavdarli B, Karaoguz MY, Percin FE. Genet Couns; 2012 Nov 15; 23(4):465-71. PubMed ID: 23431745 [Abstract] [Full Text] [Related]
46. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T. Clin Genet; 2017 Feb 15; 91(2):339-343. PubMed ID: 27452416 [Abstract] [Full Text] [Related]
47. The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature. Krajewska-Walasek M, Chrzanowska K, Jastrzbska M. Clin Dysmorphol; 1996 Jan 15; 5(1):65-72. PubMed ID: 8867662 [Abstract] [Full Text] [Related]
48. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. Eur J Med Genet; 2017 Sep 15; 60(9):451-464. PubMed ID: 28645799 [Abstract] [Full Text] [Related]
49. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Science; 2006 Mar 03; 311(5765):1287-90. PubMed ID: 16439621 [Abstract] [Full Text] [Related]
50. Facio-cardio-renal syndrome: a newly delineated recessive disorder. Eastman JR, Bixler D. Clin Genet; 1977 Jun 03; 11(6):424-30. PubMed ID: 880742 [Abstract] [Full Text] [Related]
51. De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. Li G, Li N, Li J, Ding Y, Yu T, Wang X, Wang J. Fetal Pediatr Pathol; 2017 Apr 03; 36(2):130-138. PubMed ID: 28426343 [Abstract] [Full Text] [Related]
52. Cardio-facio-cutaneous syndrome: report of a case with a review of the literature. Nanda S, Rajpal M, Reddy BS. Int J Dermatol; 2004 Jun 03; 43(6):447-50. PubMed ID: 15186229 [Abstract] [Full Text] [Related]
53. Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O. Hum Mol Genet; 2008 Feb 01; 17(3):419-30. PubMed ID: 17981815 [Abstract] [Full Text] [Related]
54. Cardio-facio-cutaneous syndrome: a case report. Ribeiro de Castro MC, de Aquino AM, Camilo C, Maceira JP, Ramos-e-Silva M. Int J Dermatol; 2002 Dec 01; 41(12):923-5. PubMed ID: 12492991 [Abstract] [Full Text] [Related]
55. The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. Young TL, Ziylan S, Schaffer DB. J Pediatr Ophthalmol Strabismus; 1993 Dec 01; 30(1):48-52. PubMed ID: 8455127 [Abstract] [Full Text] [Related]
56. The cardio-facio-cutaneous syndrome: report of a patient and review of the literature. Bottani A, Hammerer I, Schinzel A. Eur J Pediatr; 1991 May 01; 150(7):486-8. PubMed ID: 1915501 [Abstract] [Full Text] [Related]
57. Cardio-facio-cutaneous (CFC) syndrome: report of two patients without hyperkeratotic skin lesions. Matsuda Y, Murano I, Kondoh O, Matsuo K, Kajii T. Am J Med Genet; 1991 May 01; 39(2):144-7. PubMed ID: 1842204 [Abstract] [Full Text] [Related]
58. Heterogeneity of cardio-facio-cutaneous syndrome. Neri G, Opitz JM. Am J Med Genet; 2000 Nov 13; 95(2):144. PubMed ID: 11078564 [No Abstract] [Full Text] [Related]
59. Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7. Lopez-Rangel E, Hrynchak M, Friedman JM. Am J Med Genet; 1993 Sep 01; 47(3):326-9. PubMed ID: 8135275 [Abstract] [Full Text] [Related]
60. Pseudoaminopterin syndrome. Kraoua L, Capri Y, Perrin L, Benmansour A, Verloes A. Am J Med Genet A; 2012 Sep 01; 158A(9):2233-8. PubMed ID: 22811276 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]