394 related articles for article (PubMed ID: 17483702)
21. Costello syndrome and related disorders.
Quezada E; Gripp KW
Curr Opin Pediatr; 2007 Dec; 19(6):636-44. PubMed ID: 18025929
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
Senawong T; Phuchareon J; Ohara O; McCormick F; Rauen KA; Tetsu O
Hum Mol Genet; 2008 Feb; 17(3):419-30. PubMed ID: 17981815
[TBL] [Abstract][Full Text] [Related]
25. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
Rauen KA
Am J Med Genet A; 2006 Aug; 140(15):1681-3. PubMed ID: 16804887
[No Abstract] [Full Text] [Related]
26. Gene symbol: BRAF. Disease: Cardio-facio-cutaneous syndrome.
Cave H
Hum Genet; 2008 Feb; 123(1):108-9. PubMed ID: 18386342
[No Abstract] [Full Text] [Related]
27. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
Lee ST; Ki CS; Lee HJ
Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820
[TBL] [Abstract][Full Text] [Related]
28. The cardiofaciocutaneous syndrome.
Roberts A; Allanson J; Jadico SK; Kavamura MI; Noonan J; Opitz JM; Young T; Neri G
J Med Genet; 2006 Nov; 43(11):833-42. PubMed ID: 16825433
[TBL] [Abstract][Full Text] [Related]
29. PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
Kavamura MI; Pomponi MG; Zollino M; Lecce R; Murdolo M; Brunoni D; Alchorne MM; Opitz JM; Neri G
Eur J Hum Genet; 2003 Jan; 11(1):64-8. PubMed ID: 12529707
[TBL] [Abstract][Full Text] [Related]
30. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
Armour CM; Allanson JE
J Med Genet; 2008 Apr; 45(4):249-54. PubMed ID: 18039946
[TBL] [Abstract][Full Text] [Related]
31. [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]
32. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.
Søvik O; Schubbert S; Houge G; Steine SJ; Norgård G; Engelsen B; Njølstad PR; Shannon K; Molven A
J Med Genet; 2007 Jul; 44(7):e84. PubMed ID: 17601930
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y; Aoki Y; Niihori T; Sakurai M; Cavé H; Verloes A; Nishio K; Ohashi H; Kurosawa K; Okamoto N; Kawame H; Mizuno S; Kondoh T; Addor MC; Coeslier-Dieux A; Vincent-Delorme C; Tabayashi K; Aoki M; Kobayashi T; Guliyeva A; Kure S; Matsubara Y
J Hum Genet; 2008; 53(9):834-841. PubMed ID: 18651097
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features.
Sabatino G; Verrotti A; Domizio S; Angeiozzi B; Chiarelli F; Neri G
Childs Nerv Syst; 1997 Apr; 13(4):238-41. PubMed ID: 9202862
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
Al-Rahawan MM; Chute DJ; Sol-Church K; Gripp KW; Stabley DL; McDaniel NL; Wilson WG; Waldron PE
Am J Med Genet A; 2007 Jul; 143A(13):1481-8. PubMed ID: 17567882
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]