BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

327 related articles for article (PubMed ID: 21387466)

  • 1. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
    Lepri F; De Luca A; Stella L; Rossi C; Baldassarre G; Pantaleoni F; Cordeddu V; Williams BJ; Dentici ML; Caputo V; Venanzi S; Bonaguro M; Kavamura I; Faienza MF; Pilotta A; Stanzial F; Faravelli F; Gabrielli O; Marino B; Neri G; Silengo MC; Ferrero GB; Torrrente I; Selicorni A; Mazzanti L; Digilio MC; Zampino G; Dallapiccola B; Gelb BD; Tartaglia M
    Hum Mutat; 2011 Jul; 32(7):760-72. PubMed ID: 21387466
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
    van Trier DC; Rinne T; Noordam K; Draaisma JM; van der Burgt I
    Am J Med Genet A; 2017 Nov; 173(11):2968-2972. PubMed ID: 28884940
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
    Tartaglia M; Pennacchio LA; Zhao C; Yadav KK; Fodale V; Sarkozy A; Pandit B; Oishi K; Martinelli S; Schackwitz W; Ustaszewska A; Martin J; Bristow J; Carta C; Lepri F; Neri C; Vasta I; Gibson K; Curry CJ; Siguero JP; Digilio MC; Zampino G; Dallapiccola B; Bar-Sagi D; Gelb BD
    Nat Genet; 2007 Jan; 39(1):75-9. PubMed ID: 17143282
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
    Fabretto A; Kutsche K; Harmsen MB; Demarini S; Gasparini P; Fertz MC; Zenker M
    Eur J Med Genet; 2010; 53(5):322-4. PubMed ID: 20673819
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
    Calcagni G; Baban A; De Luca E; Leonardi B; Pongiglione G; Digilio MC
    Am J Med Genet A; 2016 Mar; 170(3):665-9. PubMed ID: 26686981
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
    Cordeddu V; Yin JC; Gunnarsson C; Virtanen C; Drunat S; Lepri F; De Luca A; Rossi C; Ciolfi A; Pugh TJ; Bruselles A; Priest JR; Pennacchio LA; Lu Z; Danesh A; Quevedo R; Hamid A; Martinelli S; Pantaleoni F; Gnazzo M; Daniele P; Lissewski C; Bocchinfuso G; Stella L; Odent S; Philip N; Faivre L; Vlckova M; Seemanova E; Digilio C; Zenker M; Zampino G; Verloes A; Dallapiccola B; Roberts AE; Cavé H; Gelb BD; Neel BG; Tartaglia M
    Hum Mutat; 2015 Nov; 36(11):1080-7. PubMed ID: 26173643
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
    Roberts AE; Araki T; Swanson KD; Montgomery KT; Schiripo TA; Joshi VA; Li L; Yassin Y; Tamburino AM; Neel BG; Kucherlapati RS
    Nat Genet; 2007 Jan; 39(1):70-4. PubMed ID: 17143285
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
    Longoni M; Moncini S; Cisternino M; Morella IM; Ferraiuolo S; Russo S; Mannarino S; Brazzelli V; Coi P; Zippel R; Venturin M; Riva P
    Am J Med Genet A; 2010 Sep; 152A(9):2176-84. PubMed ID: 20683980
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
    Narumi Y; Aoki Y; Niihori T; Sakurai M; Cavé H; Verloes A; Nishio K; Ohashi H; Kurosawa K; Okamoto N; Kawame H; Mizuno S; Kondoh T; Addor MC; Coeslier-Dieux A; Vincent-Delorme C; Tabayashi K; Aoki M; Kobayashi T; Guliyeva A; Kure S; Matsubara Y
    J Hum Genet; 2008; 53(9):834-841. PubMed ID: 18651097
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
    Sznajer Y; Keren B; Baumann C; Pereira S; Alberti C; Elion J; Cavé H; Verloes A
    Pediatrics; 2007 Jun; 119(6):e1325-31. PubMed ID: 17515436
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
    Denayer E; Devriendt K; de Ravel T; Van Buggenhout G; Smeets E; Francois I; Sznajer Y; Craen M; Leventopoulos G; Mutesa L; Vandecasseye W; Massa G; Kayserili H; Sciot R; Fryns JP; Legius E
    Genes Chromosomes Cancer; 2010 Mar; 49(3):242-52. PubMed ID: 19953625
    [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. 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]  

  • 16. Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
    Shoji Y; Ida S; Niihori T; Aoki Y; Okamoto N; Etani Y; Kawai M
    Endocr J; 2019 Nov; 66(11):983-994. PubMed ID: 31292302
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [SOS1 mutation: a new cause of Noonan syndrome].
    Serrano-Martín MM; Martínez-Aedo MJ; Tartaglia M; López-Siguero JP
    An Pediatr (Barc); 2008 Apr; 68(4):365-8. PubMed ID: 18394382
    [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 17.