BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

427 related articles for article (PubMed ID: 19206169)

  • 1. 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; 30(4):695-702. PubMed ID: 19206169
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 44(12):763-71. PubMed ID: 17704260
    [TBL] [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; 144(2):67-72. PubMed ID: 25194980
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
    Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
    BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
    Tidyman WE; Rauen KA
    Expert Rev Mol Med; 2008 Dec; 10():e37. PubMed ID: 19063751
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
    Koudova M; Seemanova E; Zenker M
    Eur J Med Genet; 2009; 52(5):337-40. PubMed ID: 19416762
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ; Alanay Y; Gülhan B; Lissewski C; Türkyilmaz D; Alehan D; Cetin M; Utine GE; Zenker M; Boduroğlu K
    Clin Genet; 2013 Feb; 83(2):181-6. PubMed ID: 22420426
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 152A(3):591-600. PubMed ID: 20186801
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
    Pandit B; Sarkozy A; Pennacchio LA; Carta C; Oishi K; Martinelli S; Pogna EA; Schackwitz W; Ustaszewska A; Landstrom A; Bos JM; Ommen SR; Esposito G; Lepri F; Faul C; Mundel P; López Siguero JP; Tenconi R; Selicorni A; Rossi C; Mazzanti L; Torrente I; Marino B; Digilio MC; Zampino G; Ackerman MJ; Dallapiccola B; Tartaglia M; Gelb BD
    Nat Genet; 2007 Aug; 39(8):1007-12. PubMed ID: 17603483
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
    Nyström AM; Ekvall S; Berglund E; Björkqvist M; Braathen G; Duchen K; Enell H; Holmberg E; Holmlund U; Olsson-Engman M; Annerén G; Bondeson ML
    J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Costello syndrome and related disorders.
    Quezada E; Gripp KW
    Curr Opin Pediatr; 2007 Dec; 19(6):636-44. PubMed ID: 18025929
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 17(6):733-40. PubMed ID: 19156172
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Noonan syndrome and clinically related disorders.
    Tartaglia M; Gelb BD; Zenker M
    Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):161-79. PubMed ID: 21396583
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
    Tumurkhuu M; Saitoh M; Sato A; Takahashi K; Mimaki M; Takita J; Takeshita K; Hama T; Oka A; Mizuguchi M
    Pediatr Int; 2010 Aug; 52(4):557-62. PubMed ID: 20030748
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].
    Molven A; Søvik O; von der Lippe C; Steine SJ; Njølstad PR; Houge G; Prescott TE
    Tidsskr Nor Laegeforen; 2009 Nov; 129(22):2358-61. PubMed ID: 19935936
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
    Chinton J; Huckstadt V; Moresco A; Gravina LP; Obregon MG
    Arch Argent Pediatr; 2019 Oct; 117(5):330-337. PubMed ID: 31560489
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 185(2):469-475. PubMed ID: 33274568
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
    Gripp KW; Lin AE; Nicholson L; Allen W; Cramer A; Jones KL; Kutz W; Peck D; Rebolledo MA; Wheeler PG; Wilson W; Al-Rahawan MM; Stabley DL; Sol-Church K
    Am J Med Genet A; 2007 Jul; 143A(13):1472-80. PubMed ID: 17551924
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.