BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 37942564)

  • 1. The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
    Zeng L; Wang J; Zhu H; Huang Y; Deng Y; Wei P; Nie J; Tang B; Chen A; Zhu S
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2313. PubMed ID: 37942564
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
    Niihori T; Nagai K; Fujita A; Ohashi H; Okamoto N; Okada S; Harada A; Kihara H; Arbogast T; Funayama R; Shirota M; Nakayama K; Abe T; Inoue SI; Tsai IC; Matsumoto N; Davis EE; Katsanis N; Aoki Y
    Am J Hum Genet; 2019 Jun; 104(6):1233-1240. PubMed ID: 31130285
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.
    Yu C; Lyn N; Li D; Mei S; Liu L; Shang Q
    Eur J Med Genet; 2023 Jan; 66(1):104675. PubMed ID: 36460282
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.
    Weinstock NI; Sadler L
    Am J Med Genet A; 2022 Jan; 188(1):364-368. PubMed ID: 34648682
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
    Capri Y; Flex E; Krumbach OHF; Carpentieri G; Cecchetti S; Lißewski C; Rezaei Adariani S; Schanze D; Brinkmann J; Piard J; Pantaleoni F; Lepri FR; Goh ES; Chong K; Stieglitz E; Meyer J; Kuechler A; Bramswig NC; Sacharow S; Strullu M; Vial Y; Vignal C; Kensah G; Cuturilo G; Kazemein Jasemi NS; Dvorsky R; Monaghan KG; Vincent LM; Cavé H; Verloes A; Ahmadian MR; Tartaglia M; Zenker M
    Am J Hum Genet; 2019 Jun; 104(6):1223-1232. PubMed ID: 31130282
    [TBL] [Abstract][Full Text] [Related]  

  • 6. LZTR1: Genotype Expansion in Noonan Syndrome.
    Güemes M; Martín-Rivada Á; Ortiz-Cabrera NV; Martos-Moreno GÁ; Pozo-Román J; Argente J
    Horm Res Paediatr; 2019; 92(4):269-275. PubMed ID: 31533111
    [TBL] [Abstract][Full Text] [Related]  

  • 7. NRAS associated RASopathy and embryonal rhabdomyosarcoma.
    Garren B; Stephan M; Hogue JS
    Am J Med Genet A; 2020 Jan; 182(1):195-200. PubMed ID: 31697451
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
    Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
    BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Elucidation of
    Higgins EM; Bos JM; Mason-Suares H; Tester DJ; Ackerman JP; MacRae CA; Sol-Church K; Gripp KW; Urrutia R; Ackerman MJ
    JCI Insight; 2017 Mar; 2(5):e91225. PubMed ID: 28289718
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
    Carapito R; Paul N; Untrau M; Ott L; Corradini N; Poignant S; Geffroy L; Caldagues E; Heymann MF; Cassagnau E; Isidor B; Bahram S
    J Hum Genet; 2014 Jan; 59(1):57-9. PubMed ID: 24225993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
    Ji J; Navid F; Hiemenz MC; Kaneko M; Zhou S; Saitta SC; Biegel JA
    Cancer Genet; 2019 Feb; 231-232():62-66. PubMed ID: 30803559
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.
    Shatokhina O; Bostanova F; Bulakh M; Beresneva A; Ryzhkova O
    Clin Genet; 2024 May; 105(5):573-580. PubMed ID: 38332451
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Noonan syndrome-like phenotype associated with an ERF frameshift variant.
    Hirano Y; Kuroda Y; Enomoto Y; Naruto T; Muroya K; Kurosawa K
    Am J Med Genet A; 2024 May; ():e63652. PubMed ID: 38741564
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case Report: Chinese female patients with a heterozygous pathogenic
    Cong Y; Jin H; Wu K; Wang H; Wang D
    Front Genet; 2022; 13():900226. PubMed ID: 36046249
    [No Abstract]   [Full Text] [Related]  

  • 20. Case report: A
    Wang Q; Cheng S; Fu Y; Yuan H
    Front Genet; 2022; 13():1040124. PubMed ID: 36579329
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.