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Journal Abstract Search

287 related items for PubMed ID: 27940666

  • 21. 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; 21(1):55-60. PubMed ID: 21871821
    [Abstract] [Full Text] [Related]

  • 22. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B.
    Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
    [Abstract] [Full Text] [Related]

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

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

  • 25. 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; 48(3):121-7. PubMed ID: 26939159
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
    Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):83-9. PubMed ID: 21500339
    [Abstract] [Full Text] [Related]

  • 28. Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.
    Urban J, Qi L, Zhao H, Rybak I, Rauen KA, Kiuru M.
    J Eur Acad Dermatol Venereol; 2020 Mar 15; 34(3):601-607. PubMed ID: 31736117
    [Abstract] [Full Text] [Related]

  • 29. 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 15; 25(7):823-831. PubMed ID: 28594414
    [Abstract] [Full Text] [Related]

  • 30. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
    Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.
    Am J Med Genet A; 2014 Nov 15; 164A(11):2814-21. PubMed ID: 25250515
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. 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]

  • 33. 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
    [Abstract] [Full Text] [Related]

  • 34. An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
    Yi JS, Perla S, Bennett AM.
    Cardiovasc Drugs Ther; 2023 Dec 09; 37(6):1193-1204. PubMed ID: 35156148
    [Abstract] [Full Text] [Related]

  • 35. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
    Gripp KW, Lin AE.
    Genet Med; 2012 Mar 09; 14(3):285-92. PubMed ID: 22261753
    [Abstract] [Full Text] [Related]

  • 36. NRAS associated RASopathy and embryonal rhabdomyosarcoma.
    Garren B, Stephan M, Hogue JS.
    Am J Med Genet A; 2020 Jan 09; 182(1):195-200. PubMed ID: 31697451
    [Abstract] [Full Text] [Related]

  • 37. [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]

  • 38. Bone resorption in syndromes of the Ras/MAPK pathway.
    Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M.
    Clin Genet; 2011 Dec 09; 80(6):566-73. PubMed ID: 21204800
    [Abstract] [Full Text] [Related]

  • 39. Behavioral profile in RASopathies.
    Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S.
    Am J Med Genet A; 2014 Apr 09; 164A(4):934-42. PubMed ID: 24458522
    [Abstract] [Full Text] [Related]

  • 40. Neurodevelopmental Aspects of RASopathies.
    Kim YE, Baek ST.
    Mol Cells; 2019 Jun 30; 42(6):441-447. PubMed ID: 31250618
    [Abstract] [Full Text] [Related]

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