392 related articles for article (PubMed ID: 21784453)
1. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
Lee BH; Kim JM; Jin HY; Kim GH; Choi JH; Yoo HW
J Pediatr; 2011 Dec; 159(6):1029-35. PubMed ID: 21784453
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T; Aoki Y; Niihori T; Cavé H; Verloes A; Okamoto N; Kawame H; Fujiwara I; Takada F; Ohata T; Sakazume S; Ando T; Nakagawa N; Lapunzina P; Meneses AG; Gillessen-Kaesbach G; Wieczorek D; Kurosawa K; Mizuno S; Ohashi H; David A; Philip N; Guliyeva A; Narumi Y; Kure S; Tsuchiya S; Matsubara Y
Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
Nyström AM; Ekvall S; Thuresson AC; Denayer E; Legius E; Kamali-Moghaddam M; Westermark B; Annerén G; Bondeson ML
Eur J Med Genet; 2010; 53(3):117-21. PubMed ID: 20302979
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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]
8. [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]
9. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
Fabretto A; Kutsche K; Harmsen MB; Demarini S; Gasparini P; Fertz MC; Zenker M
Eur J Med Genet; 2010; 53(5):322-4. PubMed ID: 20673819
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Brasil AS; Pereira AC; Wanderley LT; Kim CA; Malaquias AC; Jorge AA; Krieger JE; Bertola DR
Genet Test Mol Biomarkers; 2010 Jun; 14(3):425-32. PubMed ID: 20578946
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
Jorge AA; Malaquias AC; Arnhold IJ; Mendonca BB
Horm Res; 2009; 71(4):185-93. PubMed ID: 19258709
[TBL] [Abstract][Full Text] [Related]
15. Abnormal growth in noonan syndrome: the challenge of optimal therapy.
Savage MO; Padidela R; Kirk JM; Malaquias AC; Jorge AA
Pediatr Endocrinol Rev; 2009 Jun; 6 Suppl 4():523-8. PubMed ID: 19550387
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
[TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype correlations in Noonan syndrome.
Zenker M; Buheitel G; Rauch R; Koenig R; Bosse K; Kress W; Tietze HU; Doerr HG; Hofbeck M; Singer H; Reis A; Rauch A
J Pediatr; 2004 Mar; 144(3):368-74. PubMed ID: 15001945
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular characterization of 40 patients with Noonan syndrome.
Ferrero GB; Baldassarre G; Delmonaco AG; Biamino E; Banaudi E; Carta C; Rossi C; Silengo MC
Eur J Med Genet; 2008; 51(6):566-72. PubMed ID: 18678287
[TBL] [Abstract][Full Text] [Related]
20. Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
Kaski JP; Syrris P; Shaw A; Alapi KZ; Cordeddu V; Esteban MT; Jenkins S; Ashworth M; Hammond P; Tartaglia M; McKenna WJ; Elliott PM
Circ Cardiovasc Genet; 2012 Jun; 5(3):317-26. PubMed ID: 22589294
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
