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Journal Abstract Search

271 related items for PubMed ID: 23059812

  • 1. 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]

  • 2. 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 15; 81(6):590-4. PubMed ID: 21797849
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  • 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 15; 170(10):2570-7. PubMed ID: 27155212
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  • 4. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
    Tidyman WE, Rauen KA.
    Expert Rev Mol Med; 2008 Dec 09; 10():e37. PubMed ID: 19063751
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  • 5. 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 09; 65(5):447-55. PubMed ID: 22465605
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  • 10. 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 09; 173(9):2346-2352. PubMed ID: 28650561
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  • 11. Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
    Engler M, Fidan M, Nandi S, Cirstea IC.
    Mech Ageing Dev; 2021 Mar 09; 194():111411. PubMed ID: 33309600
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  • 12. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
    Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.
    J Med Genet; 2007 Feb 09; 44(2):131-5. PubMed ID: 17056636
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  • 14. [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
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  • 16. 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
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  • 17. 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 20; 48(3):121-7. PubMed ID: 26939159
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  • 18. 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 Sep 20; 18(3):285-96. PubMed ID: 25182392
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  • 19. 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 20; 83(2):181-6. PubMed ID: 22420426
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  • 20. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
    Adachi M, Abe Y, Aoki Y, Matsubara Y.
    Seizure; 2012 Jan 20; 21(1):55-60. PubMed ID: 21871821
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