BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 29704308)

  • 1. A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
    Geoghegan S; King G; Henchliffe J; Ramsden SC; Barry RJ; Green AJ; O'Connell SM
    Am J Med Genet A; 2018 Jul; 176(7):1637-1640. PubMed ID: 29704308
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 185(2):469-475. PubMed ID: 33274568
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.
    Terry J; Rauen KA; Nowaczyk MJ
    Pediatr Dev Pathol; 2014; 17(1):59-63. PubMed ID: 24303953
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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; 144(2):67-72. PubMed ID: 25194980
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
    Siegel DH; McKenzie J; Frieden IJ; Rauen KA
    Br J Dermatol; 2011 Mar; 164(3):521-9. PubMed ID: 21062266
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
    Inoue S; Moriya M; Watanabe Y; Miyagawa-Tomita S; Niihori T; Oba D; Ono M; Kure S; Ogura T; Matsubara Y; Aoki Y
    Hum Mol Genet; 2014 Dec; 23(24):6553-66. PubMed ID: 25035421
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
    Nowaczyk MJ; Thompson BA; Zeesman S; Moog U; Sanchez-Lara PA; Magoulas PL; Falk RE; Hoover-Fong JE; Batista DA; Amudhavalli SM; White SM; Graham GE; Rauen KA
    Clin Genet; 2014 Feb; 85(2):138-46. PubMed ID: 23379592
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating Braf
    Maeda Y; Tidyman WE; Ander BP; Pritchard CA; Rauen KA
    Dev Dyn; 2021 Aug; 250(8):1074-1095. PubMed ID: 33522658
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular spectra of BRAF-associated RASopathy.
    Lee Y; Choi Y; Seo GH; Kim GH; Choi IH; Keum C; Ko JM; Cheon CK; Jeon J; Choi JH; Yoo HW; Lee BH
    J Hum Genet; 2021 Apr; 66(4):389-399. PubMed ID: 33040082
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
    Karaer K; Lissewski C; Zenker M
    Am J Med Genet A; 2015 Feb; 167A(2):385-8. PubMed ID: 25487361
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Allanson JE; Annerén G; Aoki Y; Armour CM; Bondeson ML; Cave H; Gripp KW; Kerr B; Nystrom AM; Sol-Church K; Verloes A; Zenker M
    Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):129-35. PubMed ID: 21495173
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
    Ohtake A; Aoki Y; Saito Y; Niihori T; Shibuya A; Kure S; Matsubara Y
    J Pediatr Hematol Oncol; 2011 Dec; 33(8):e342-6. PubMed ID: 20523244
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 108(12):5015-20. PubMed ID: 21383153
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
    Suzuki-Muromoto S; Miyabayashi T; Nagai K; Yamamura-Suzuki S; Anzai M; Takezawa Y; Sato R; Okubo Y; Endo W; Inui T; Togashi N; Kikuchi A; Niihori T; Aoki Y; Kure S; Haginoya K
    J Hum Genet; 2019 May; 64(5):499-504. PubMed ID: 30842599
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
    Goodwin AF; Oberoi S; Landan M; Charles C; Groth J; Martinez A; Fairley C; Weiss LA; Tidyman WE; Klein OD; Rauen KA
    Clin Genet; 2013 Jun; 83(6):539-44. PubMed ID: 22946697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
    Choi JY; Han KM; Kim D; Lee BH; Yoo HW; Choi JH; Han YM
    Int J Mol Sci; 2017 Dec; 18(12):. PubMed ID: 29194391
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 58(1):14-20. PubMed ID: 25463315
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Aoidi R; Houde N; Landry-Truchon K; Holter M; Jacquet K; Charron L; Krishnaswami SR; Yu BD; Rauen KA; Bisson N; Newbern J; Charron J
    Dis Model Mech; 2018 Mar; 11(3):. PubMed ID: 29590634
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 173(9):2346-2352. PubMed ID: 28650561
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.