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Journal Abstract Search

326 related items for PubMed ID: 21495172

  • 21. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
    Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.
    J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 22. 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; 182(4):866-876. PubMed ID: 31913576
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. 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 14; 46(3):394-9. PubMed ID: 22907230
    [Abstract] [Full Text] [Related]

  • 25. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
    Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K.
    Am J Med Genet A; 2007 Jul 01; 143A(13):1472-80. PubMed ID: 17551924
    [Abstract] [Full Text] [Related]

  • 26. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
    Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M.
    Eur J Med Genet; 2015 Jan 01; 58(1):14-20. PubMed ID: 25463315
    [Abstract] [Full Text] [Related]

  • 27. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
    Chinton J, Huckstadt V, Moresco A, Gravina LP, Obregon MG.
    Arch Argent Pediatr; 2019 Oct 01; 117(5):330-337. PubMed ID: 31560489
    [Abstract] [Full Text] [Related]

  • 28. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
    Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP.
    Am J Med Genet A; 2020 Feb 01; 182(2):357-364. PubMed ID: 31837205
    [Abstract] [Full Text] [Related]

  • 29. RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?
    van der Kaay DC, Levine BS, Doyle D, Mendoza-Londono R, Palmert MR.
    Pediatrics; 2016 Dec 01; 138(6):. PubMed ID: 27940666
    [Abstract] [Full Text] [Related]

  • 30. [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]

  • 31. 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]

  • 32. 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]

  • 33. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
    Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.
    Clin Genet; 2008 Jan 09; 73(1):62-70. PubMed ID: 18042262
    [Abstract] [Full Text] [Related]

  • 34. 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 09; 181(2):208-217. PubMed ID: 30896080
    [Abstract] [Full Text] [Related]

  • 35. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
    Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.
    Pediatrics; 2014 Oct 09; 134(4):e1149-62. PubMed ID: 25180280
    [Abstract] [Full Text] [Related]

  • 36. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.
    Urosevic J, Sauzeau V, Soto-Montenegro ML, Reig S, Desco M, Wright EM, Cañamero M, Mulero F, Ortega S, Bustelo XR, Barbacid M.
    Proc Natl Acad Sci U S A; 2011 Mar 22; 108(12):5015-20. PubMed ID: 21383153
    [Abstract] [Full Text] [Related]

  • 37. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
    Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.
    Pediatr Int; 2010 Aug 22; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 38. 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 22; 37(6):1193-1204. PubMed ID: 35156148
    [Abstract] [Full Text] [Related]

  • 39. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
    Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
    Am J Med Genet A; 2007 Apr 15; 143A(8):799-807. PubMed ID: 17366577
    [Abstract] [Full Text] [Related]

  • 40. A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
    Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F.
    Genet Couns; 2012 Apr 15; 23(2):305-11. PubMed ID: 22876591
    [Abstract] [Full Text] [Related]

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