242 related articles for article (PubMed ID: 18651097)
1. 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]
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. 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]
4. 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]
5. Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
van Trier DC; Rinne T; Noordam K; Draaisma JM; van der Burgt I
Am J Med Genet A; 2017 Nov; 173(11):2968-2972. PubMed ID: 28884940
[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. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M; Horn D; Wieczorek D; Allanson J; Pauli S; van der Burgt I; Doerr HG; Gaspar H; Hofbeck M; Gillessen-Kaesbach G; Koch A; Meinecke P; Mundlos S; Nowka A; Rauch A; Reif S; von Schnakenburg C; Seidel H; Wehner LE; Zweier C; Bauhuber S; Matejas V; Kratz CP; Thomas C; Kutsche K
J Med Genet; 2007 Oct; 44(10):651-6. PubMed ID: 17586837
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S; Aoki Y; Niihori T; Okamoto N; Hennekam RC; Hopman S; Ohashi H; Mizuno S; Watanabe Y; Kamasaki H; Kondo I; Moriyama N; Kurosawa K; Kawame H; Okuyama R; Imaizumi M; Rikiishi T; Tsuchiya S; Kure S; Matsubara Y
J Hum Genet; 2010 Dec; 55(12):801-9. PubMed ID: 20882035
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
Ko JM; Kim JM; Kim GH; Yoo HW
J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. [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]
16. Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
Bertola DR; Pereira AC; de Oliveira PS; Kim CA; Krieger JE
Am J Med Genet A; 2004 Nov; 130A(4):378-83. PubMed ID: 15384080
[TBL] [Abstract][Full Text] [Related]
17. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Denayer E; Devriendt K; de Ravel T; Van Buggenhout G; Smeets E; Francois I; Sznajer Y; Craen M; Leventopoulos G; Mutesa L; Vandecasseye W; Massa G; Kayserili H; Sciot R; Fryns JP; Legius E
Genes Chromosomes Cancer; 2010 Mar; 49(3):242-52. PubMed ID: 19953625
[TBL] [Abstract][Full Text] [Related]
18. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M; Niihori T; Mizuno S; Okamoto N; Hayashi S; Watanabe A; Yokozawa M; Suzumura H; Nakahara A; Nakano Y; Hokosaki T; Ohmori A; Sawada H; Migita O; Mima A; Lapunzina P; Santos-Simarro F; García-Miñaúr S; Ogata T; Kawame H; Kurosawa K; Ohashi H; Inoue S; Matsubara Y; Kure S; Aoki Y
Hum Genet; 2016 Feb; 135(2):209-22. PubMed ID: 26714497
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]