BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

452 related articles for article (PubMed ID: 22465605)

  • 1. 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; 65(5):447-55. PubMed ID: 22465605
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
    Čizmárová M; Hlinková K; Bertok S; Kotnik P; Duba HC; Bertalan R; Poločková K; Košťálová Ľ; Pribilincová Z; Hlavatá A; Kovács L; Ilenčíková D
    Ann Hum Genet; 2016 Jan; 80(1):50-62. PubMed ID: 26607044
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
    Kobayashi T; Aoki Y; Niihori T; Cavé H; Verloes A; Okamoto N; Kawame H; Fujiwara I; Takada F; Ohata T; Sakazume S; Ando T; Nakagawa N; Lapunzina P; Meneses AG; Gillessen-Kaesbach G; Wieczorek D; Kurosawa K; Mizuno S; Ohashi H; David A; Philip N; Guliyeva A; Narumi Y; Kure S; Tsuchiya S; Matsubara Y
    Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K; Yaoita M; Niihori T; Aoki Y; Okamoto N
    Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic and pathogenetic aspects of Noonan syndrome and related disorders.
    Zenker M
    Horm Res; 2009 Dec; 72 Suppl 2():57-63. PubMed ID: 20029240
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
    Lee ST; Ki CS; Lee HJ
    Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820
    [TBL] [Abstract][Full Text] [Related]  

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

  • 14. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
    Ko JM; Kim JM; Kim GH; Yoo HW
    J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
    Leung GKC; Luk HM; Tang VHM; Gao WW; Mak CCY; Yu MHC; Wong WL; Chu YWY; Yang WL; Wong WHS; Ma ACH; Leung AYH; Jin DY; Chan KYK; Allanson J; Lo IFM; Chung BHY
    Sci Rep; 2018 Feb; 8(1):2421. PubMed ID: 29402968
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
    Cirstea IC; Gremer L; Dvorsky R; Zhang SC; Piekorz RP; Zenker M; Ahmadian MR
    Hum Mol Genet; 2013 Jan; 22(2):262-70. PubMed ID: 23059812
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    Uludağ Alkaya D; Lissewski C; Yeşil G; Zenker M; Tüysüz B
    Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
    Brasil AS; Pereira AC; Wanderley LT; Kim CA; Malaquias AC; Jorge AA; Krieger JE; Bertola DR
    Genet Test Mol Biomarkers; 2010 Jun; 14(3):425-32. PubMed ID: 20578946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.