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Journal Abstract Search

1077 related items for PubMed ID: 17704260

  • 21. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
    Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V.
    Eur J Hum Genet; 2009 Apr; 17(4):420-5. PubMed ID: 18854871
    [Abstract] [Full Text] [Related]

  • 22. The cardiofaciocutaneous syndrome.
    Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.
    J Med Genet; 2006 Nov; 43(11):833-42. PubMed ID: 16825433
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
    Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B.
    Eur J Hum Genet; 2009 Jun 01; 17(6):733-40. PubMed ID: 19156172
    [Abstract] [Full Text] [Related]

  • 25. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
    Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M.
    Hum Mutat; 2009 Apr 01; 30(4):695-702. PubMed ID: 19206169
    [Abstract] [Full Text] [Related]

  • 26. Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
    Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA.
    Clin Genet; 2003 May 01; 63(5):423-6. PubMed ID: 12752577
    [Abstract] [Full Text] [Related]

  • 27. Costello syndrome: clinical diagnosis in the first year of life.
    Digilio MC, Sarkozy A, Capolino R, Chiarini Testa MB, Esposito G, de Zorzi A, Cutrera R, Marino B, Dallapiccola B.
    Eur J Pediatr; 2008 Jun 01; 167(6):621-8. PubMed ID: 17726614
    [Abstract] [Full Text] [Related]

  • 28. 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 01; 185(2):469-475. PubMed ID: 33274568
    [Abstract] [Full Text] [Related]

  • 29. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):129-35. PubMed ID: 21495173
    [Abstract] [Full Text] [Related]

  • 30. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
    Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS.
    Am J Med Genet A; 2010 Mar 15; 152A(3):591-600. PubMed ID: 20186801
    [Abstract] [Full Text] [Related]

  • 31. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
    Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, Wilson WG, Waldron PE.
    Am J Med Genet A; 2007 Jul 01; 143A(13):1481-8. PubMed ID: 17567882
    [Abstract] [Full Text] [Related]

  • 32. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
    Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
    Hum Mutat; 2008 Aug 01; 29(8):992-1006. PubMed ID: 18470943
    [Abstract] [Full Text] [Related]

  • 33. Neurological complications of cardio-facio-cutaneous syndrome.
    Yoon G, Rosenberg J, Blaser S, Rauen KA.
    Dev Med Child Neurol; 2007 Dec 01; 49(12):894-9. PubMed ID: 18039235
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
    Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA.
    Clin Genet; 2013 Jun 01; 83(6):539-44. PubMed ID: 22946697
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
    Armour CM, Allanson JE.
    J Med Genet; 2008 Apr 15; 45(4):249-54. PubMed ID: 18039946
    [Abstract] [Full Text] [Related]

  • 38. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
    Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M.
    Eur J Med Genet; 2015 Jan 15; 58(1):14-20. PubMed ID: 25463315
    [Abstract] [Full Text] [Related]

  • 39. Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
    Ørstavik KH, Tangeraas T, Molven A, Prescott TE.
    Eur J Med Genet; 2007 Jan 15; 50(2):155-8. PubMed ID: 17324647
    [Abstract] [Full Text] [Related]

  • 40. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
    Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G.
    J Med Genet; 2006 May 15; 43(5):401-5. PubMed ID: 16443854
    [Abstract] [Full Text] [Related]

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