BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 34309696)

  • 1. Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
    Calandrelli R; Pilato F; Panfili M; Battaglia D; Gambardella ML; Colosimo C
    Neuroradiology; 2022 Jan; 64(1):185-195. PubMed ID: 34309696
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
    Musto E; Gambardella ML; Perulli M; Quintiliani M; Veredice C; Verdolotti T; Berté G; Leoni C; Onesimo R; Pulitanò SM; Tartaglia M; Zampino G; Contaldo I; Battaglia DI
    Epilepsia Open; 2024 Feb; 9(1):258-267. PubMed ID: 37943120
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cardio
    Chen B; Chen S; Xiong J; Yin F
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Apr; 46(4):432-437. PubMed ID: 33967092
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. 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]  

  • 8. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
    Aizaki K; Sugai K; Saito Y; Nakagawa E; Sasaki M; Aoki Y; Matsubara Y
    Brain Dev; 2011 Feb; 33(2):166-9. PubMed ID: 20395089
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.
    Dong X; Png NCY; Fortier MV; Lim JY; Wong KPL; Choo JTL; Tan EC; Jamuar SS
    Am J Med Genet A; 2022 Sep; 188(9):2732-2737. PubMed ID: 35801299
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
    Moriya M; Inoue S; Miyagawa-Tomita S; Nakashima Y; Oba D; Niihori T; Hashi M; Ohnishi H; Kure S; Matsubara Y; Aoki Y
    Hum Mol Genet; 2015 Dec; 24(25):7349-60. PubMed ID: 26472072
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Neurological complications of cardio-facio-cutaneous syndrome.
    Yoon G; Rosenberg J; Blaser S; Rauen KA
    Dev Med Child Neurol; 2007 Dec; 49(12):894-9. PubMed ID: 18039235
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.
    Wakusawa K; Kobayashi S; Abe Y; Tanaka S; Endo W; Inui T; Iwaki M; Watanabe S; Togashi N; Nara T; Niihori T; Aoki Y; Haginoya K
    Brain Dev; 2014 Jan; 36(1):61-3. PubMed ID: 23340054
    [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. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.
    Papadopoulou E; Sifakis S; Sol-Church K; Klein-Zighelboim E; Stabley DL; Raissaki M; Gripp KW; Kalmanti M
    Am J Med Genet A; 2011 Mar; 155A(3):605-11. PubMed ID: 21337689
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.