BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 22876591)

  • 1. 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]  

  • 2. Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
    Biard JM; Steenhaut P; Bernard P; Race V; Sznajer Y
    Eur J Obstet Gynecol Reprod Biol; 2019 Sep; 240():232-241. PubMed ID: 31336229
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.
    Demir E; Mancano G; Pomponi MG; Ozcelik A; Gucuyener K; Neri G
    Neuropediatrics; 2010 Jun; 41(3):127-31. PubMed ID: 20859831
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
    Koudova M; Seemanova E; Zenker M
    Eur J Med Genet; 2009; 52(5):337-40. PubMed ID: 19416762
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
    Tidyman WE; Rauen KA
    Expert Rev Mol Med; 2008 Dec; 10():e37. PubMed ID: 19063751
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
    Makita Y; Narumi Y; Yoshida M; Niihori T; Kure S; Fujieda K; Matsubara Y; Aoki Y
    J Pediatr Hematol Oncol; 2007 May; 29(5):287-90. PubMed ID: 17483702
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
    Ezquieta B; Santomé JL; Carcavilla A; Guillén-Navarro E; Pérez-Aytés A; Sánchez del Pozo J; García-Miñaur S; Castillo E; Alonso M; Vendrell T; Santana A; Maroto E; Galbis L
    Rev Esp Cardiol (Engl Ed); 2012 May; 65(5):447-55. PubMed ID: 22465605
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
    Tidyman WE; Lee HS; Rauen KA
    Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):104-14. PubMed ID: 21495178
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 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. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ; Alanay Y; Gülhan B; Lissewski C; Türkyilmaz D; Alehan D; Cetin M; Utine GE; Zenker M; Boduroğlu K
    Clin Genet; 2013 Feb; 83(2):181-6. PubMed ID: 22420426
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.