BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 20395089)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.
    Hatori T; Sugiyama Y; Yamashita S; Hirakubo Y; Nonaka K; Ichihashi K
    J Nippon Med Sch; 2016; 83(4):167-71. PubMed ID: 27680485
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 23(2):305-11. PubMed ID: 22876591
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
    Sekiguchi K; Maeda T; Suenobu S; Kunisaki N; Shimizu M; Kiyota K; Handa YS; Akiyoshi K; Korematsu S; Aoki Y; Matsubara Y; Izumi T
    Am J Med Genet A; 2013 Oct; 161A(10):2600-3. PubMed ID: 23950000
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
    Okuzono S; Fukai R; Noda M; Miyake N; Lee S; Kaku N; Sanefuji M; Akamine S; Kanno S; Ishizaki Y; Torisu H; Kira R; Matsumoto N; Sakai Y; Ohga S
    Brain Dev; 2019 Apr; 41(4):378-381. PubMed ID: 30414707
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
    Champion KJ; Bunag C; Estep AL; Jones JR; Bolt CH; Rogers RC; Rauen KA; Everman DB
    Clin Genet; 2011 May; 79(5):468-74. PubMed ID: 20735442
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.
    Chrzanowska K; Fryns JP; Van den Berghe H
    Am J Med Genet; 1989 Aug; 33(4):471-3. PubMed ID: 2596505
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.