These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

430 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. 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]  

  • 10. 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]  

  • 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. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
    Zenker M; Horn D; Wieczorek D; Allanson J; Pauli S; van der Burgt I; Doerr HG; Gaspar H; Hofbeck M; Gillessen-Kaesbach G; Koch A; Meinecke P; Mundlos S; Nowka A; Rauch A; Reif S; von Schnakenburg C; Seidel H; Wehner LE; Zweier C; Bauhuber S; Matejas V; Kratz CP; Thomas C; Kutsche K
    J Med Genet; 2007 Oct; 44(10):651-6. PubMed ID: 17586837
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.