361 related articles for article (PubMed ID: 20186801)
1. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont EI; Pierpont ME; Mendelsohn NJ; Roberts AE; Tworog-Dube E; Rauen KA; Seidenberg MS
Am J Med Genet A; 2010 Mar; 152A(3):591-600. PubMed ID: 20186801
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. 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]
5. 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]
6. 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]
7. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
Tumurkhuu M; Saitoh M; Sato A; Takahashi K; Mimaki M; Takita J; Takeshita K; Hama T; Oka A; Mizuguchi M
Pediatr Int; 2010 Aug; 52(4):557-62. PubMed ID: 20030748
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A; Carta C; Moretti S; Zampino G; Digilio MC; Pantaleoni F; Scioletti AP; Esposito G; Cordeddu V; Lepri F; Petrangeli V; Dentici ML; Mancini GM; Selicorni A; Rossi C; Mazzanti L; Marino B; Ferrero GB; Silengo MC; Memo L; Stanzial F; Faravelli F; Stuppia L; Puxeddu E; Gelb BD; Dallapiccola B; Tartaglia M
Hum Mutat; 2009 Apr; 30(4):695-702. PubMed ID: 19206169
[TBL] [Abstract][Full Text] [Related]
10. Orthopaedic conditions in Ras/MAPK related disorders.
Reinker KA; Stevenson DA; Tsung A
J Pediatr Orthop; 2011; 31(5):599-605. PubMed ID: 21654472
[TBL] [Abstract][Full Text] [Related]
11. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
Seemanová E; Zenker M
Cas Lek Cesk; 2014; 153(5):242-5. PubMed ID: 25370770
[TBL] [Abstract][Full Text] [Related]
12. [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].
Molven A; Søvik O; von der Lippe C; Steine SJ; Njølstad PR; Houge G; Prescott TE
Tidsskr Nor Laegeforen; 2009 Nov; 129(22):2358-61. PubMed ID: 19935936
[TBL] [Abstract][Full Text] [Related]
13. A review of craniofacial and dental findings of the RASopathies.
Cao H; Alrejaye N; Klein OD; Goodwin AF; Oberoi S
Orthod Craniofac Res; 2017 Jun; 20 Suppl 1(Suppl 1):32-38. PubMed ID: 28643916
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J; Huckstadt V; Moresco A; Gravina LP; Obregon MG
Arch Argent Pediatr; 2019 Oct; 117(5):330-337. PubMed ID: 31560489
[TBL] [Abstract][Full Text] [Related]
15. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Neumann TE; Allanson J; Kavamura I; Kerr B; Neri G; Noonan J; Cordeddu V; Gibson K; Tzschach A; Krüger G; Hoeltzenbein M; Goecke TO; Kehl HG; Albrecht B; Luczak K; Sasiadek MM; Musante L; Laurie R; Peters H; Tartaglia M; Zenker M; Kalscheuer V
Eur J Hum Genet; 2009 Apr; 17(4):420-5. PubMed ID: 18854871
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT; Luk HM; Leung GKC; Mak CCY; Cheng SSW; Hau EWL; Chan DKH; Lam STS; Tong TMF; Chung BHY; Lo IFM
Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].
Gos M; Leszkiewicz M; Abramowicz A
Postepy Biochem; 2012; 58(3):255-64. PubMed ID: 23373411
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
