BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

395 related articles for article (PubMed ID: 21784453)

  • 21. 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]  

  • 22. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
    Yagasaki H; Nakane T; Hasebe Y; Watanabe A; Kise H; Toda T; Koizumi K; Hoshiai M; Sugita K
    Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
    Seemanová E; Zenker M
    Cas Lek Cesk; 2014; 153(5):242-5. PubMed ID: 25370770
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
    Ogata T; Yoshida R
    Pediatr Endocrinol Rev; 2005 Jun; 2(4):669-74. PubMed ID: 16208280
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
    Ekvall S; Wilbe M; Dahlgren J; Legius E; van Haeringen A; Westphal O; Annerén G; Bondeson ML
    BMC Med Genet; 2015 Oct; 16():95. PubMed ID: 26467218
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
    Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
    Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
    Zenker M
    Curr Opin Pediatr; 2011 Aug; 23(4):443-51. PubMed ID: 21750428
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Response to growth hormone in short children with Noonan syndrome: correlation to genotype.
    Binder G
    Horm Res; 2009 Dec; 72 Suppl 2():52-6. PubMed ID: 20029239
    [TBL] [Abstract][Full Text] [Related]  

  • 35. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
    Carcavilla A; Santomé JL; Pinto I; Sánchez-Pozo J; Guillén-Navarro E; Martín-Frías M; Lapunzina P; Ezquieta B
    Rev Esp Cardiol (Engl Ed); 2013 May; 66(5):350-6. PubMed ID: 24775816
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
    Zenker M; Lehmann K; Schulz AL; Barth H; Hansmann D; Koenig R; Korinthenberg R; Kreiss-Nachtsheim M; Meinecke P; Morlot S; Mundlos S; Quante AS; Raskin S; Schnabel D; Wehner LE; Kratz CP; Horn D; Kutsche K
    J Med Genet; 2007 Feb; 44(2):131-5. PubMed ID: 17056636
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
    Jongmans MC; Hoogerbrugge PM; Hilkens L; Flucke U; van der Burgt I; Noordam K; Ruiterkamp-Versteeg M; Yntema HG; Nillesen WM; Ligtenberg MJ; van Kessel AG; Kuiper RP; Hoogerbrugge N
    Genes Chromosomes Cancer; 2010 Jul; 49(7):635-41. PubMed ID: 20461756
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
    Aoki Y; Niihori T; Narumi Y; Kure S; Matsubara Y
    Hum Mutat; 2008 Aug; 29(8):992-1006. PubMed ID: 18470943
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 20.