BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

660 related articles for article (PubMed ID: 26714497)

  • 1. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
    Yaoita M; Niihori T; Mizuno S; Okamoto N; Hayashi S; Watanabe A; Yokozawa M; Suzumura H; Nakahara A; Nakano Y; Hokosaki T; Ohmori A; Sawada H; Migita O; Mima A; Lapunzina P; Santos-Simarro F; García-Miñaúr S; Ogata T; Kawame H; Kurosawa K; Ohashi H; Inoue S; Matsubara Y; Kure S; Aoki Y
    Hum Genet; 2016 Feb; 135(2):209-22. PubMed ID: 26714497
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
    Aoki Y; Niihori T; Banjo T; Okamoto N; Mizuno S; Kurosawa K; Ogata T; Takada F; Yano M; Ando T; Hoshika T; Barnett C; Ohashi H; Kawame H; Hasegawa T; Okutani T; Nagashima T; Hasegawa S; Funayama R; Nagashima T; Nakayama K; Inoue S; Watanabe Y; Ogura T; Matsubara Y
    Am J Hum Genet; 2013 Jul; 93(1):173-80. PubMed ID: 23791108
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
    Koh AL; Tan ES; Brett MS; Lai AHM; Jamuar SS; Ng I; Tan EC
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00581. PubMed ID: 30784236
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
    Kouz K; Lissewski C; Spranger S; Mitter D; Riess A; Lopez-Gonzalez V; Lüttgen S; Aydin H; von Deimling F; Evers C; Hahn A; Hempel M; Issa U; Kahlert AK; Lieb A; Villavicencio-Lorini P; Ballesta-Martinez MJ; Nampoothiri S; Ovens-Raeder A; Puchmajerová A; Satanovskij R; Seidel H; Unkelbach S; Zabel B; Kutsche K; Zenker M
    Genet Med; 2016 Dec; 18(12):1226-1234. PubMed ID: 27101134
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
    Papadopoulos G; Papadopoulou A; Kosma K; Papadimitriou A; Papaevangelou V; Kanaka-Gantenbein C; Bountouvi E; Kitsiou-Tzeli S
    Eur J Pediatr; 2022 Oct; 181(10):3691-3700. PubMed ID: 35904599
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
    Baban A; Olivini N; Lepri FR; Calì F; Mucciolo M; Digilio MC; Calcagni G; di Mambro C; Dallapiccola B; Adorisio R; Novelli A; Drago F
    Am J Med Genet A; 2019 Oct; 179(10):2083-2090. PubMed ID: 31368652
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
    Nemcikova M; Vejvalkova S; Fencl F; Sukova M; Krepelova A
    Eur J Pediatr; 2016 Apr; 175(4):587-92. PubMed ID: 26518681
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cardiovascular disease in Noonan syndrome.
    Pierpont ME; Digilio MC
    Curr Opin Pediatr; 2018 Oct; 30(5):601-608. PubMed ID: 30024444
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [RIT1: a novel gene associated with Noonan syndrome].
    Arroyo-Carrera I; Solo de Zaldivar-Tristancho M; Martin-Fernandez R; Vera-Torres M; Gonzalez de Buitrago-Amigo JF; Botet-Rodriguez J
    Rev Neurol; 2016 Oct; 63(8):358-362. PubMed ID: 27699752
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
    Milosavljević D; Overwater E; Tamminga S; de Boer K; Elting MW; van Hoorn ME; Rinne T; Houweling AC
    Am J Med Genet A; 2016 Jul; 170(7):1874-80. PubMed ID: 27109146
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
    Brasil AS; Malaquias AC; Wanderley LT; Kim CA; Krieger JE; Jorge AA; Pereira AC; Bertola DR
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):717-22. PubMed ID: 21340158
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.