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Journal Abstract Search

313 related items for PubMed ID: 24668879

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  • 4. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
    Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):136-46. PubMed ID: 21495172
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  • 5. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
    Tidyman WE, Lee HS, Rauen KA.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):104-14. PubMed ID: 21495178
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  • 6. 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 May 15; 18(3):285-96. PubMed ID: 25182392
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  • 8. 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 15; 51(1):10-20. PubMed ID: 24101678
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  • 9. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
    Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G.
    Am J Med Genet A; 2015 Sep 15; 167A(9):2085-97. PubMed ID: 25914166
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  • 10. HRAS and the Costello syndrome.
    Rauen KA.
    Clin Genet; 2007 Feb 15; 71(2):101-8. PubMed ID: 17250658
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  • 14. [New insight of craniofacial and oral findings of the RASopathies].
    Cao HT, Yang YJ, Zheng Q, Shi B, Li CH.
    Zhonghua Kou Qiang Yi Xue Za Zhi; 2018 Dec 09; 53(12):858-861. PubMed ID: 30522213
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  • 15. 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 09; 47(4):217-22. PubMed ID: 24156711
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  • 17. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
    Rauen KA, Maeda Y, Egense A, Tidyman WE.
    Am J Med Genet A; 2021 Feb 09; 185(2):469-475. PubMed ID: 33274568
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  • 18. 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 09; 83(2):181-6. PubMed ID: 22420426
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