661 related articles for article (PubMed ID: 16439621)
1. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P; Tetsu O; Tidyman WE; Estep AL; Conger BA; Cruz MS; McCormick F; Rauen KA
Science; 2006 Mar; 311(5765):1287-90. PubMed ID: 16439621
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C; Hanna N; Michot C; Pereira S; Pouvreau N; Niihori T; Aoki Y; Matsubara Y; Arveiler B; Lacombe D; Pasmant E; Parfait B; Baumann C; Héron D; Sigaudy S; Toutain A; Rio M; Goldenberg A; Leheup B; Verloes A; Cavé H
J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. BRAF and MEK mutations make a late entrance.
Duesbery N; Vande Woude G
Sci STKE; 2006 Mar; 2006(328):pe15. PubMed ID: 16569817
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL; Albrecht B; Arici C; van der Burgt I; Buske A; Gillessen-Kaesbach G; Heller R; Horn D; Hübner CA; Korenke GC; König R; Kress W; Krüger G; Meinecke P; Mücke J; Plecko B; Rossier E; Schinzel A; Schulze A; Seemanova E; Seidel H; Spranger S; Tuysuz B; Uhrig S; Wieczorek D; Kutsche K; Zenker M
Clin Genet; 2008 Jan; 73(1):62-70. PubMed ID: 18042262
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM; Ekvall S; Berglund E; Björkqvist M; Braathen G; Duchen K; Enell H; Holmberg E; Holmlund U; Olsson-Engman M; Annerén G; Bondeson ML
J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
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. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
Rauen KA; Tidyman WE; Estep AL; Sampath S; Peltier HM; Bale SJ; Lacassie Y
Am J Med Genet A; 2010 Apr; 152A(4):807-14. PubMed ID: 20358587
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML; Sarkozy A; Pantaleoni F; Carta C; Lepri F; Ferese R; Cordeddu V; Martinelli S; Briuglia S; Digilio MC; Zampino G; Tartaglia M; Dallapiccola B
Eur J Hum Genet; 2009 Jun; 17(6):733-40. PubMed ID: 19156172
[TBL] [Abstract][Full Text] [Related]
20.
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]
[Next] [New Search]