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Journal Abstract Search

418 related items for PubMed ID: 29402968

  • 1. 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 05; 8(1):2421. PubMed ID: 29402968
    [Abstract] [Full Text] [Related]

  • 2. 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 05; 185(12):3623-3633. PubMed ID: 34184824
    [Abstract] [Full Text] [Related]

  • 3. 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 05; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 117(5):330-337. PubMed ID: 31560489
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 25(7):823-831. PubMed ID: 28594414
    [Abstract] [Full Text] [Related]

  • 6. 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 14; 112(8):1392-7. PubMed ID: 25742478
    [Abstract] [Full Text] [Related]

  • 7. 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 14; 182(4):866-876. PubMed ID: 31913576
    [Abstract] [Full Text] [Related]

  • 8. NRAS associated RASopathy and embryonal rhabdomyosarcoma.
    Garren B, Stephan M, Hogue JS.
    Am J Med Genet A; 2020 Jan 14; 182(1):195-200. PubMed ID: 31697451
    [Abstract] [Full Text] [Related]

  • 9. [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 20; 144(2):67-72. PubMed ID: 25194980
    [Abstract] [Full Text] [Related]

  • 10. Neurodevelopmental Aspects of RASopathies.
    Kim YE, Baek ST.
    Mol Cells; 2019 Jun 30; 42(6):441-447. PubMed ID: 31250618
    [Abstract] [Full Text] [Related]

  • 11. 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 30; 181(2):208-217. PubMed ID: 30896080
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 51(1):10-20. PubMed ID: 24101678
    [Abstract] [Full Text] [Related]

  • 13. Peripheral muscle weakness in RASopathies.
    Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA.
    Muscle Nerve; 2012 Sep 30; 46(3):394-9. PubMed ID: 22907230
    [Abstract] [Full Text] [Related]

  • 14. 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 30; 173(9):2346-2352. PubMed ID: 28650561
    [Abstract] [Full Text] [Related]

  • 15. 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 30; 65(5):447-55. PubMed ID: 22465605
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 47(4):217-22. PubMed ID: 24156711
    [Abstract] [Full Text] [Related]

  • 17. Noonan syndrome and clinically related disorders.
    Tartaglia M, Gelb BD, Zenker M.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb 30; 25(1):161-79. PubMed ID: 21396583
    [Abstract] [Full Text] [Related]

  • 18. Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
    Engler M, Fidan M, Nandi S, Cirstea IC.
    Mech Ageing Dev; 2021 Mar 30; 194():111411. PubMed ID: 33309600
    [Abstract] [Full Text] [Related]

  • 19. A review of craniofacial and dental findings of the RASopathies.
    Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S.
    Orthod Craniofac Res; 2017 Jun 30; 20 Suppl 1(Suppl 1):32-38. PubMed ID: 28643916
    [Abstract] [Full Text] [Related]

  • 20. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
    Bezniakow N, Gos M, Obersztyn E.
    Dev Period Med; 2014 Jun 30; 18(3):285-96. PubMed ID: 25182392
    [Abstract] [Full Text] [Related]

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