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Journal Abstract Search

155 related items for PubMed ID: 6492141

  • 1. Clinical confusion of the Noonan syndrome with the Börjeson-Forssman-Lehmann syndrome.
    Preus M.
    J Ment Defic Res; 1984 Sep; 28 ( Pt 3)():235-8. PubMed ID: 6492141
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  • 2. The Börjeson-Forssman-Lehmann syndrome: a new case.
    Veall RM, Brett EM, Rivinus TM, Stephens R.
    J Ment Defic Res; 1979 Dec; 23(4):231-42. PubMed ID: 537034
    [Abstract] [Full Text] [Related]

  • 3. Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
    Verloes A.
    J Med Genet; 1993 May; 30(5):425-6. PubMed ID: 8320709
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  • 4. Prolapse of all cardiac valves in Noonan syndrome.
    Otikunta AN, Subbareddy YV, Polamuri P, Thakkar A.
    BMJ Case Rep; 2015 Feb 25; 2015():. PubMed ID: 25716036
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  • 5. 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 Feb 25; 31(4):230-4. PubMed ID: 3265306
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  • 6. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
    Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D.
    Am J Med Genet C Semin Med Genet; 2014 Sep 25; 166C(3):290-301. PubMed ID: 25099957
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  • 7. Noonan syndrome and its related disorders.
    Fukushima Y.
    Acta Paediatr Jpn; 1996 Feb 25; 38(1):102-4. PubMed ID: 8992851
    [Abstract] [Full Text] [Related]

  • 8. [Börjeson-Forssman-Lehmann syndrome].
    Kubota T.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():410-2. PubMed ID: 17022575
    [No Abstract] [Full Text] [Related]

  • 9. Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.
    Weber FT, Frias JL, Julius RL, Felman AH.
    J Med Genet; 1978 Feb 28; 15(1):63-6. PubMed ID: 564968
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 11. Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome.
    Leichtman LG.
    Clin Dysmorphol; 1996 Jan 28; 5(1):61-4. PubMed ID: 8867661
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  • 14. Distinct phenotype of PHF6 deletions in females.
    Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.
    Eur J Med Genet; 2014 Feb 28; 57(2-3):85-9. PubMed ID: 24380767
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  • 17. Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.
    Raymond G, Holmes LB.
    Dev Med Child Neurol; 1993 Aug 28; 35(8):727-32. PubMed ID: 7687572
    [Abstract] [Full Text] [Related]

  • 18. Skin manifestations of cardio-facio-cutaneous syndrome.
    Borradori L, Blanchet-Bardon C.
    J Am Acad Dermatol; 1993 May 28; 28(5 Pt 2):815-9. PubMed ID: 8491871
    [Abstract] [Full Text] [Related]

  • 19. The Noonan-CFC controversy.
    Neri G, Zollino M, Reynolds JF.
    Am J Med Genet; 1991 Jun 01; 39(3):367-70. PubMed ID: 1867292
    [Abstract] [Full Text] [Related]

  • 20. A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.
    Zhang X, Fan Y, Liu X, Zhu MA, Sun Y, Yan H, He Y, Ye X, Gu X, Yu Y.
    J Clin Res Pediatr Endocrinol; 2019 Nov 22; 11(4):419-425. PubMed ID: 30630810
    [Abstract] [Full Text] [Related]

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