309 related articles for article (PubMed ID: 21797849)
1. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
Stark Z; Gillessen-Kaesbach G; Ryan MM; Cirstea IC; Gremer L; Ahmadian MR; Savarirayan R; Zenker M
Clin Genet; 2012 Jun; 81(6):590-4. PubMed ID: 21797849
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
Cirstea IC; Gremer L; Dvorsky R; Zhang SC; Piekorz RP; Zenker M; Ahmadian MR
Hum Mol Genet; 2013 Jan; 22(2):262-70. PubMed ID: 23059812
[TBL] [Abstract][Full Text] [Related]
4. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
Adachi M; Abe Y; Aoki Y; Matsubara Y
Seizure; 2012 Jan; 21(1):55-60. PubMed ID: 21871821
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
Bezniakow N; Gos M; Obersztyn E
Dev Period Med; 2014; 18(3):285-96. PubMed ID: 25182392
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Kratz CP; Franke L; Peters H; Kohlschmidt N; Kazmierczak B; Finckh U; Bier A; Eichhorn B; Blank C; Kraus C; Kohlhase J; Pauli S; Wildhardt G; Kutsche K; Auber B; Christmann A; Bachmann N; Mitter D; Cremer FW; Mayer K; Daumer-Haas C; Nevinny-Stickel-Hinzpeter C; Oeffner F; Schlüter G; Gencik M; Überlacker B; Lissewski C; Schanze I; Greene MH; Spix C; Zenker M
Br J Cancer; 2015 Apr; 112(8):1392-7. PubMed ID: 25742478
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
Eur J Hum Genet; 2017 Jun; 25(7):823-831. PubMed ID: 28594414
[TBL] [Abstract][Full Text] [Related]
12. Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.
Lo FS; Lin JL; Kuo MT; Chiu PC; Shu SG; Chao MC; Lee YJ; Lin SP
Eur J Pediatr; 2009 Aug; 168(8):919-23. PubMed ID: 18958496
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Gremer L; Merbitz-Zahradnik T; Dvorsky R; Cirstea IC; Kratz CP; Zenker M; Wittinghofer A; Ahmadian MR
Hum Mutat; 2011 Jan; 32(1):33-43. PubMed ID: 20949621
[TBL] [Abstract][Full Text] [Related]
17. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
Allanson JE
Am J Med Genet A; 2016 Oct; 170(10):2570-7. PubMed ID: 27155212
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]