BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

524 related articles for article (PubMed ID: 28594414)

  • 1. Genotype and phenotype spectrum of NRAS germline variants.
    Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
    Eur J Hum Genet; 2017 Jun; 25(7):823-831. PubMed ID: 28594414
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
    Kratz CP; Franke L; Peters H; Kohlschmidt N; Kazmierczak B; Finckh U; Bier A; Eichhorn B; Blank C; Kraus C; Kohlhase J; Pauli S; Wildhardt G; Kutsche K; Auber B; Christmann A; Bachmann N; Mitter D; Cremer FW; Mayer K; Daumer-Haas C; Nevinny-Stickel-Hinzpeter C; Oeffner F; Schlüter G; Gencik M; Überlacker B; Lissewski C; Schanze I; Greene MH; Spix C; Zenker M
    Br J Cancer; 2015 Apr; 112(8):1392-7. PubMed ID: 25742478
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
    Leung GKC; Luk HM; Tang VHM; Gao WW; Mak CCY; Yu MHC; Wong WL; Chu YWY; Yang WL; Wong WHS; Ma ACH; Leung AYH; Jin DY; Chan KYK; Allanson J; Lo IFM; Chung BHY
    Sci Rep; 2018 Feb; 8(1):2421. PubMed ID: 29402968
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
    Gross AM; Frone M; Gripp KW; Gelb BD; Schoyer L; Schill L; Stronach B; Biesecker LG; Esposito D; Hernandez ER; Legius E; Loh ML; Martin S; Morrison DK; Rauen KA; Wolters PL; Zand D; McCormick F; Savage SA; Stewart DR; Widemann BC; Yohe ME
    Am J Med Genet A; 2020 Apr; 182(4):866-876. PubMed ID: 31913576
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
    Yu KPT; Luk HM; Leung GKC; Mak CCY; Cheng SSW; Hau EWL; Chan DKH; Lam STS; Tong TMF; Chung BHY; Lo IFM
    Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A; García-Miñaúr S; Pérez-Aytés A; Vendrell T; Pinto I; Guillén-Navarro E; González-Meneses A; Aoki Y; Grinberg D; Ezquieta B
    Med Clin (Barc); 2015 Jan; 144(2):67-72. PubMed ID: 25194980
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
    Engler M; Fidan M; Nandi S; Cirstea IC
    Mech Ageing Dev; 2021 Mar; 194():111411. PubMed ID: 33309600
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.
    Cizmarova M; Kostalova L; Pribilincova Z; Lasabova Z; Hlavata A; Kovacs L; Ilencikova D
    Endocr Regul; 2013 Oct; 47(4):217-22. PubMed ID: 24156711
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autism traits in the RASopathies.
    Adviento B; Corbin IL; Widjaja F; Desachy G; Enrique N; Rosser T; Risi S; Marco EJ; Hendren RL; Bearden CE; Rauen KA; Weiss LA
    J Med Genet; 2014 Jan; 51(1):10-20. PubMed ID: 24101678
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
    Allanson JE
    Am J Med Genet A; 2016 Oct; 170(10):2570-7. PubMed ID: 27155212
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and molecular spectra of BRAF-associated RASopathy.
    Lee Y; Choi Y; Seo GH; Kim GH; Choi IH; Keum C; Ko JM; Cheon CK; Jeon J; Choi JH; Yoo HW; Lee BH
    J Hum Genet; 2021 Apr; 66(4):389-399. PubMed ID: 33040082
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
    Myers A; Bernstein JA; Brennan ML; Curry C; Esplin ED; Fisher J; Homeyer M; Manning MA; Muller EA; Niemi AK; Seaver LH; Hintz SR; Hudgins L
    Am J Med Genet A; 2014 Nov; 164A(11):2814-21. PubMed ID: 25250515
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
    Frey T; Ivanovski I; Bahr A; Zweier M; Laube J; Luchsinger I; Steindl K; Rauch A
    Am J Med Genet A; 2023 Aug; 191(8):2074-2082. PubMed ID: 37194190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
    Stark Z; Gillessen-Kaesbach G; Ryan MM; Cirstea IC; Gremer L; Ahmadian MR; Savarirayan R; Zenker M
    Clin Genet; 2012 Jun; 81(6):590-4. PubMed ID: 21797849
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
    Nowaczyk MJ; Thompson BA; Zeesman S; Moog U; Sanchez-Lara PA; Magoulas PL; Falk RE; Hoover-Fong JE; Batista DA; Amudhavalli SM; White SM; Graham GE; Rauen KA
    Clin Genet; 2014 Feb; 85(2):138-46. PubMed ID: 23379592
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 27.