BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 20683980)

  • 1. 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]  

  • 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. Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
    Moncini S; Bonati MT; Morella I; Ferrari L; Brambilla R; Riva P
    Eur J Hum Genet; 2015 Nov; 23(11):1531-7. PubMed ID: 25712082
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. The face of Noonan syndrome: Does phenotype predict genotype.
    Allanson JE; Bohring A; Dörr HG; Dufke A; Gillessen-Kaesbach G; Horn D; König R; Kratz CP; Kutsche K; Pauli S; Raskin S; Rauch A; Turner A; Wieczorek D; Zenker M
    Am J Med Genet A; 2010 Aug; 152A(8):1960-6. PubMed ID: 20602484
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
    Razzaque MA; Nishizawa T; Komoike Y; Yagi H; Furutani M; Amo R; Kamisago M; Momma K; Katayama H; Nakagawa M; Fujiwara Y; Matsushima M; Mizuno K; Tokuyama M; Hirota H; Muneuchi J; Higashinakagawa T; Matsuoka R
    Nat Genet; 2007 Aug; 39(8):1013-7. PubMed ID: 17603482
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
    Ekvall S; Hagenäs L; Allanson J; Annerén G; Bondeson ML
    Am J Med Genet A; 2011 Jun; 155A(6):1217-24. PubMed ID: 21548061
    [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. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.