BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 25035421)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.
    Tidyman WE; Rauen KA
    Methods Mol Biol; 2010; 661():433-47. PubMed ID: 20812000
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.
    Cizmarova M; Kostalova L; Pribilincova Z; Lasabova Z; Hlavata A; Kovacs L; Ilencikova D
    Endocr Regul; 2013 Oct; 47(4):217-22. PubMed ID: 24156711
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.
    Yeh E; Dao DQ; Wu ZY; Kandalam SM; Camacho FM; Tom C; Zhang W; Krencik R; Rauen KA; Ullian EM; Weiss LA
    Mol Psychiatry; 2018 Aug; 23(8):1687-1698. PubMed ID: 29158583
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
    Engler M; Fidan M; Nandi S; Cirstea IC
    Mech Ageing Dev; 2021 Mar; 194():111411. PubMed ID: 33309600
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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; 143A(13):1472-80. PubMed ID: 17551924
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 143A(8):799-807. PubMed ID: 17366577
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-iPSCs.
    Han KM; Kim SK; Kim D; Choi JY; Im I; Hwang KS; Kim CH; Lee BH; Yoo HW; Han YM
    Stem Cells; 2015 May; 33(5):1447-55. PubMed ID: 25639853
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
    Rodriguez-Viciana P; Rauen KA
    Methods Enzymol; 2008; 438():277-89. PubMed ID: 18413255
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.