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Journal Abstract Search

235 related items for PubMed ID: 20523244

  • 1. Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
    Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y.
    J Pediatr Hematol Oncol; 2011 Dec; 33(8):e342-6. PubMed ID: 20523244
    [Abstract] [Full Text] [Related]

  • 2. 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; 29(5):287-90. PubMed ID: 17483702
    [Abstract] [Full Text] [Related]

  • 3. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.
    Med Clin (Barc); 2015 Jan 20; 144(2):67-72. PubMed ID: 25194980
    [Abstract] [Full Text] [Related]

  • 4. A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
    Geoghegan S, King G, Henchliffe J, Ramsden SC, Barry RJ, Green AJ, O'Connell SM.
    Am J Med Genet A; 2018 Jul 20; 176(7):1637-1640. PubMed ID: 29704308
    [Abstract] [Full Text] [Related]

  • 5. Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.
    Terry J, Rauen KA, Nowaczyk MJ.
    Pediatr Dev Pathol; 2014 Jul 20; 17(1):59-63. PubMed ID: 24303953
    [Abstract] [Full Text] [Related]

  • 6. Orthopaedic conditions in Ras/MAPK related disorders.
    Reinker KA, Stevenson DA, Tsung A.
    J Pediatr Orthop; 2011 Jul 20; 31(5):599-605. PubMed ID: 21654472
    [Abstract] [Full Text] [Related]

  • 7. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
    Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
    Am J Med Genet A; 2007 Apr 15; 143A(8):799-807. PubMed ID: 17366577
    [Abstract] [Full Text] [Related]

  • 8. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
    Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB.
    Clin Genet; 2011 May 15; 79(5):468-74. PubMed ID: 20735442
    [Abstract] [Full Text] [Related]

  • 9. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
    Seemanová E, Zenker M.
    Cas Lek Cesk; 2014 May 15; 153(5):242-5. PubMed ID: 25370770
    [Abstract] [Full Text] [Related]

  • 10. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
    Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki M, Aoki Y, Matsubara Y.
    Brain Dev; 2011 Feb 15; 33(2):166-9. PubMed ID: 20395089
    [Abstract] [Full Text] [Related]

  • 11. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
    Adachi M, Abe Y, Aoki Y, Matsubara Y.
    Seizure; 2012 Jan 15; 21(1):55-60. PubMed ID: 21871821
    [Abstract] [Full Text] [Related]

  • 12. A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
    Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F.
    Genet Couns; 2012 Jan 15; 23(2):305-11. PubMed ID: 22876591
    [Abstract] [Full Text] [Related]

  • 13. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
    Morcaldi G, Bellini T, Rossi C, Maghnie M, Boccardo F, Bonioli E, Bellini C.
    Lymphology; 2015 Sep 15; 48(3):121-7. PubMed ID: 26939159
    [Abstract] [Full Text] [Related]

  • 14. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
    Siegel DH, McKenzie J, Frieden IJ, Rauen KA.
    Br J Dermatol; 2011 Mar 15; 164(3):521-9. PubMed ID: 21062266
    [Abstract] [Full Text] [Related]

  • 15. A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
    Sekiguchi K, Maeda T, Suenobu S, Kunisaki N, Shimizu M, Kiyota K, Handa YS, Akiyoshi K, Korematsu S, Aoki Y, Matsubara Y, Izumi T.
    Am J Med Genet A; 2013 Oct 15; 161A(10):2600-3. PubMed ID: 23950000
    [Abstract] [Full Text] [Related]

  • 16. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
    Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.
    Hum Mol Genet; 2015 Dec 20; 24(25):7349-60. PubMed ID: 26472072
    [Abstract] [Full Text] [Related]

  • 17. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.
    Tidyman WE, Rauen KA.
    Methods Mol Biol; 2010 Dec 20; 661():433-47. PubMed ID: 20812000
    [Abstract] [Full Text] [Related]

  • 18. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
    Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y, Costello and CFC syndrome study group in Japan.
    Am J Med Genet A; 2012 May 20; 158A(5):1083-94. PubMed ID: 22495831
    [Abstract] [Full Text] [Related]

  • 19. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
    Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.
    Rev Esp Cardiol (Engl Ed); 2012 May 20; 65(5):447-55. PubMed ID: 22465605
    [Abstract] [Full Text] [Related]

  • 20. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
    Rauen KA, Maeda Y, Egense A, Tidyman WE.
    Am J Med Genet A; 2021 Feb 20; 185(2):469-475. PubMed ID: 33274568
    [Abstract] [Full Text] [Related]

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