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Journal Abstract Search

759 related items for PubMed ID: 19935936

  • 21.
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  • 22. HRAS and the Costello syndrome.
    Rauen KA.
    Clin Genet; 2007 Feb; 71(2):101-8. PubMed ID: 17250658
    [Abstract] [Full Text] [Related]

  • 23. [RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].
    Gos M, Leszkiewicz M, Abramowicz A.
    Postepy Biochem; 2012 Feb; 58(3):255-64. PubMed ID: 23373411
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  • 25. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
    Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
    J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
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  • 27. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
    Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS.
    Nat Genet; 2007 Jan; 39(1):70-4. PubMed ID: 17143285
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  • 28. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
    Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML.
    Eur J Med Genet; 2010 Jan; 53(3):117-21. PubMed ID: 20302979
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  • 32. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
    Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW.
    J Pediatr; 2011 Dec; 159(6):1029-35. PubMed ID: 21784453
    [Abstract] [Full Text] [Related]

  • 33. 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 Dec; 18(3):285-96. PubMed ID: 25182392
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  • 34. [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]

  • 35. Germline KRAS mutations cause Noonan syndrome.
    Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP.
    Nat Genet; 2006 Mar 20; 38(3):331-6. PubMed ID: 16474405
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  • 38. Malignancy in Noonan syndrome and related disorders.
    Smpokou P, Zand DJ, Rosenbaum KN, Summar ML.
    Clin Genet; 2015 Dec 20; 88(6):516-22. PubMed ID: 25683281
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  • 39. [Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome].
    Laux D, Bajolle F, Maltret A, Bonnet D.
    Arch Pediatr; 2011 Oct 20; 18(10):1087-9. PubMed ID: 21885263
    [Abstract] [Full Text] [Related]

  • 40. RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.
    Wright EM, Kerr B.
    Arch Dis Child; 2010 Sep 20; 95(9):724-30. PubMed ID: 20371595
    [Abstract] [Full Text] [Related]

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