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Journal Abstract Search

212 related items for PubMed ID: 21276471

  • 1. [A new "rasopathy": mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome].
    Dereure O.
    Ann Dermatol Venereol; 2011 Jan; 138(1):75-6. PubMed ID: 21276471
    [No 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. FOXI2: a possible gene contributing to ectodermal dysplasia.
    Kurban M, Zeineddine SB, Hamie L, Safi R, Abbas O, Kibbi AG, Bitar F, Nemer G.
    Eur J Dermatol; 2017 Dec 01; 27(6):641-645. PubMed ID: 29165300
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 65(5):447-55. PubMed ID: 22465605
    [Abstract] [Full Text] [Related]

  • 7. Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
    Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y.
    Eur J Obstet Gynecol Reprod Biol; 2019 Sep 01; 240():232-241. PubMed ID: 31336229
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 47(4):217-22. PubMed ID: 24156711
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 66(4):389-399. PubMed ID: 33040082
    [Abstract] [Full Text] [Related]

  • 11. [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]

  • 12. Noonan syndrome and clinically related disorders.
    Tartaglia M, Gelb BD, Zenker M.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb 20; 25(1):161-79. PubMed ID: 21396583
    [Abstract] [Full Text] [Related]

  • 13. 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 20; 25(7):823-831. PubMed ID: 28594414
    [Abstract] [Full Text] [Related]

  • 14. 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 20; 51(1):10-20. PubMed ID: 24101678
    [Abstract] [Full Text] [Related]

  • 15. Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
    Cirstea IC, Gremer L, Dvorsky R, Zhang SC, Piekorz RP, Zenker M, Ahmadian MR.
    Hum Mol Genet; 2013 Jan 15; 22(2):262-70. PubMed ID: 23059812
    [Abstract] [Full Text] [Related]

  • 16. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
    Morcaldi G, Bellini T, Rossi C, Maghnie M, Boccardo F, Bonioli E, Bellini C.
    Lymphology; 2015 Sep 15; 48(3):121-7. PubMed ID: 26939159
    [Abstract] [Full Text] [Related]

  • 17. A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
    Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F.
    Genet Couns; 2012 Sep 15; 23(2):305-11. PubMed ID: 22876591
    [Abstract] [Full Text] [Related]

  • 18. Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
    Aoidi R, Houde N, Landry-Truchon K, Holter M, Jacquet K, Charron L, Krishnaswami SR, Yu BD, Rauen KA, Bisson N, Newbern J, Charron J.
    Dis Model Mech; 2018 Mar 13; 11(3):. PubMed ID: 29590634
    [Abstract] [Full Text] [Related]

  • 19. Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
    Engler M, Fidan M, Nandi S, Cirstea IC.
    Mech Ageing Dev; 2021 Mar 13; 194():111411. PubMed ID: 33309600
    [Abstract] [Full Text] [Related]

  • 20. The heart in RASopathies.
    Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G.
    Am J Med Genet C Semin Med Genet; 2022 Dec 13; 190(4):440-451. PubMed ID: 36408797
    [Abstract] [Full Text] [Related]

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