BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 25123707)

  • 1. Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.
    Takenouchi T; Sakamoto Y; Miwa T; Torii C; Kosaki R; Kishi K; Takahashi T; Kosaki K
    Am J Med Genet A; 2014 Nov; 164A(11):2869-72. PubMed ID: 25123707
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
    Addissie YA; Kotecha U; Hart RA; Martinez AF; Kruszka P; Muenke M
    Am J Med Genet A; 2015 Nov; 167A(11):2657-63. PubMed ID: 26249544
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
    Kratz CP; Zampino G; Kriek M; Kant SG; Leoni C; Pantaleoni F; Oudesluys-Murphy AM; Di Rocco C; Kloska SP; Tartaglia M; Zenker M
    Am J Med Genet A; 2009 May; 149A(5):1036-40. PubMed ID: 19396835
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
    Serbinski CR; Vanderwal A; Chadwell SE; Sanchez AI; Hopkin RJ; Hufnagel RB; Weaver KN; Prada CE
    Am J Med Genet A; 2024 Feb; 194(2):195-202. PubMed ID: 37774117
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant.
    Yamada M; Funato M; Kondo G; Suzuki H; Uehara T; Takenouchi T; Sakamoto Y; Kosaki K
    Congenit Anom (Kyoto); 2021 Nov; 61(6):226-230. PubMed ID: 34184330
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
    Gripp KW; Aldinger KA; Bennett JT; Baker L; Tusi J; Powell-Hamilton N; Stabley D; Sol-Church K; Timms AE; Dobyns WB
    Am J Med Genet A; 2016 Sep; 170(9):2237-47. PubMed ID: 27264673
    [TBL] [Abstract][Full Text] [Related]  

  • 8. FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
    Hibberd CE; Bowdin S; Arudchelvan Y; Forrest CR; Brakora KA; Marcucio RS; Gong SG
    Am J Med Genet A; 2016 Dec; 170(12):3215-3221. PubMed ID: 27481450
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
    Gripp KW; Zand DJ; Demmer L; Anderson CE; Dobyns WB; Zackai EH; Denenberg E; Jenny K; Stabley DL; Sol-Church K
    Am J Med Genet A; 2013 Oct; 161A(10):2420-30. PubMed ID: 23918763
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
    Komatsuzaki S; Aoki Y; Niihori T; Okamoto N; Hennekam RC; Hopman S; Ohashi H; Mizuno S; Watanabe Y; Kamasaki H; Kondo I; Moriyama N; Kurosawa K; Kawame H; Okuyama R; Imaizumi M; Rikiishi T; Tsuchiya S; Kure S; Matsubara Y
    J Hum Genet; 2010 Dec; 55(12):801-9. PubMed ID: 20882035
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
    Ito S; Sekido K; Kanno H; Sato H; Tanaka M; Yamaguchi K; Yamamoto I
    J Neurosurg; 2005 Jan; 102(1 Suppl):23-30. PubMed ID: 16206730
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.
    Liu L; Hu C; Chen Z; Zhu S; Zhu L
    Am J Case Rep; 2023 Nov; 24():e942377. PubMed ID: 38019730
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.
    Gilbert-Dussardier B; Briand-Suleau A; Laurendeau I; Bilan F; Cavé H; Verloes A; Vidaud M; Vidaud D; Pasmant E
    Orphanet J Rare Dis; 2016 Jul; 11(1):101. PubMed ID: 27450488
    [TBL] [Abstract][Full Text] [Related]  

  • 17. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.
    Brasil AS; Malaquias AC; Kim CA; Krieger JE; Jorge AA; Pereira AC; Bertola DR
    Am J Med Genet A; 2012 May; 158A(5):1178-84. PubMed ID: 22488932
    [TBL] [Abstract][Full Text] [Related]  

  • 18. M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration.
    Kota P; Terrell EM; Ritt DA; Insinna C; Westlake CJ; Morrison DK
    Proc Natl Acad Sci U S A; 2019 Feb; 116(9):3536-3545. PubMed ID: 30808747
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
    Motta M; Sagi-Dain L; Krumbach OHF; Hahn A; Peleg A; German A; Lissewski C; Coppola S; Pantaleoni F; Kocherscheid L; Altmüller F; Schanze D; Logeswaran T; Chahrokh-Zadeh S; Munzig A; Nakhaei-Rad S; Cavé H; Ahmadian MR; Tartaglia M; Zenker M
    Hum Mol Genet; 2020 Jul; 29(11):1772-1783. PubMed ID: 31108500
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
    Timberlake AT; Furey CG; Choi J; Nelson-Williams C; ; Loring E; Galm A; Kahle KT; Steinbacher DM; Larysz D; Persing JA; Lifton RP
    Proc Natl Acad Sci U S A; 2017 Aug; 114(35):E7341-E7347. PubMed ID: 28808027
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.