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Journal Abstract Search

183 related items for PubMed ID: 1867292

  • 1. The Noonan-CFC controversy.
    Neri G, Zollino M, Reynolds JF.
    Am J Med Genet; 1991 Jun 01; 39(3):367-70. PubMed ID: 1867292
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  • 2. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
    Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.
    Hum Genet; 2002 Oct 01; 111(4-5):421-7. PubMed ID: 12384786
    [Abstract] [Full Text] [Related]

  • 3. The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?
    Fryer AE, Holt PJ, Hughes HE.
    Am J Med Genet; 1991 Mar 15; 38(4):548-51. PubMed ID: 2063896
    [Abstract] [Full Text] [Related]

  • 4. CFC syndrome: a syndrome distinct from Noonan syndrome.
    Verloes A, Le Merrer M, Soyeur D, Kaplan J, Pangalos C, Rigo J, Briard ML.
    Ann Genet; 1988 Mar 15; 31(4):230-4. PubMed ID: 3265306
    [Abstract] [Full Text] [Related]

  • 5. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.
    Legius E, Schollen E, Matthijs G, Fryns JP.
    Eur J Hum Genet; 1998 Jan 15; 6(1):32-7. PubMed ID: 9781012
    [Abstract] [Full Text] [Related]

  • 6. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
    Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.
    J Med Genet; 2007 Dec 15; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 7. [CFC syndrome in mother and daughter: a syndrome distinct from Noonan syndrome].
    Blanchet-Bardon C, Puppin D, Fischer R, Dubertret L.
    Ann Dermatol Venereol; 1991 Dec 15; 118(11):778-80. PubMed ID: 1789629
    [No Abstract] [Full Text] [Related]

  • 8. Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?
    Lorenzetti ME, Fryns JP.
    Am J Med Genet; 1996 Oct 16; 65(2):97-9. PubMed ID: 8911596
    [Abstract] [Full Text] [Related]

  • 9. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
    Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M.
    Am J Med Genet; 2000 Jul 31; 93(3):219-22. PubMed ID: 10925386
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  • 18. Cardiofacio cutaneous syndrome: notes on clinical variability and natural history.
    Corsello G, Giuffrè L.
    Am J Med Genet; 1991 Nov 01; 41(2):265-6. PubMed ID: 1785648
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  • 20. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
    Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y.
    J Pediatr Hematol Oncol; 2007 May 01; 29(5):287-90. PubMed ID: 17483702
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