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551 related items for PubMed ID: 25182392

  • 1. 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; 18(3):285-96. PubMed ID: 25182392
    [Abstract] [Full Text] [Related]

  • 2. 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; 20 Suppl 1(Suppl 1):32-38. PubMed ID: 28643916
    [Abstract] [Full Text] [Related]

  • 3. 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; 47(4):217-22. PubMed ID: 24156711
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 46(3):394-9. PubMed ID: 22907230
    [Abstract] [Full Text] [Related]

  • 6. [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
    [Abstract] [Full Text] [Related]

  • 7. 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 09; 51(1):10-20. PubMed ID: 24101678
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Pathogenesis of Growth Failure in Rasopathies.
    Aftab S, Dattani MT.
    Pediatr Endocrinol Rev; 2019 May 15; 16(Suppl 2):447-458. PubMed ID: 31115196
    [Abstract] [Full Text] [Related]

  • 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 15; 173(9):2346-2352. PubMed ID: 28650561
    [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 15; 181(2):208-217. PubMed ID: 30896080
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Orthopaedic conditions in Ras/MAPK related disorders.
    Reinker KA, Stevenson DA, Tsung A.
    J Pediatr Orthop; 2011 Apr 14; 31(5):599-605. PubMed ID: 21654472
    [Abstract] [Full Text] [Related]

  • 14. Craniofacial and dental development in Costello syndrome.
    Goodwin AF, Oberoi S, Landan M, Charles C, Massie JC, Fairley C, Rauen KA, Klein OD.
    Am J Med Genet A; 2014 Jun 14; 164A(6):1425-30. PubMed ID: 24668879
    [Abstract] [Full Text] [Related]

  • 15. 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 14; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 182(4):866-876. PubMed ID: 31913576
    [Abstract] [Full Text] [Related]

  • 18. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
    Zenker M.
    Curr Opin Pediatr; 2011 Aug 15; 23(4):443-51. PubMed ID: 21750428
    [Abstract] [Full Text] [Related]

  • 19. [Neuro-cardio-facial-cutaneous syndrome].
    Bessis D.
    Ann Dermatol Venereol; 2011 Aug 15; 138(6-7):483-93. PubMed ID: 21700069
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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