504 related articles for article (PubMed ID: 20882035)
1. 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]
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. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.
Choi JH; Oh MY; Yum MS; Lee BH; Kim GH; Yoo HW
Pediatr Neurol; 2015 Mar; 52(3):352-5. PubMed ID: 25563136
[TBL] [Abstract][Full Text] [Related]
4. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Jongmans MC; Hoogerbrugge PM; Hilkens L; Flucke U; van der Burgt I; Noordam K; Ruiterkamp-Versteeg M; Yntema HG; Nillesen WM; Ligtenberg MJ; van Kessel AG; Kuiper RP; Hoogerbrugge N
Genes Chromosomes Cancer; 2010 Jul; 49(7):635-41. PubMed ID: 20461756
[TBL] [Abstract][Full Text] [Related]
5. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE; Araki T; Swanson KD; Montgomery KT; Schiripo TA; Joshi VA; Li L; Yassin Y; Tamburino AM; Neel BG; Kucherlapati RS
Nat Genet; 2007 Jan; 39(1):70-4. PubMed ID: 17143285
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M; Lehmann K; Schulz AL; Barth H; Hansmann D; Koenig R; Korinthenberg R; Kreiss-Nachtsheim M; Meinecke P; Morlot S; Mundlos S; Quante AS; Raskin S; Schnabel D; Wehner LE; Kratz CP; Horn D; Kutsche K
J Med Genet; 2007 Feb; 44(2):131-5. PubMed ID: 17056636
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [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]
11. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Gripp KW; Zand DJ; Demmer L; Anderson CE; Dobyns WB; Zackai EH; Denenberg E; Jenny K; Stabley DL; Sol-Church K
Am J Med Genet A; 2013 Oct; 161A(10):2420-30. PubMed ID: 23918763
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
Lo FS; Luo JD; Lee YJ; Shu SG; Kuo MT; Chiou CC
Clin Chim Acta; 2009 Nov; 409(1-2):75-7. PubMed ID: 19737548
[TBL] [Abstract][Full Text] [Related]
15. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y; Niihori T; Narumi Y; Kure S; Matsubara Y
Hum Mutat; 2008 Aug; 29(8):992-1006. PubMed ID: 18470943
[TBL] [Abstract][Full Text] [Related]
16. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
Ekvall S; Hagenäs L; Allanson J; Annerén G; Bondeson ML
Am J Med Genet A; 2011 Jun; 155A(6):1217-24. PubMed ID: 21548061
[TBL] [Abstract][Full Text] [Related]
17. Ras/MAPK syndromes and childhood hemato-oncological diseases.
Aoki Y; Matsubara Y
Int J Hematol; 2013 Jan; 97(1):30-6. PubMed ID: 23250860
[TBL] [Abstract][Full Text] [Related]
18. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Nyström AM; Ekvall S; Strömberg B; Holmström G; Thuresson AC; Annerén G; Bondeson ML
Acta Paediatr; 2009 Apr; 98(4):693-8. PubMed ID: 19120036
[TBL] [Abstract][Full Text] [Related]
19. Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA; Nishizawa T; Komoike Y; Yagi H; Furutani M; Amo R; Kamisago M; Momma K; Katayama H; Nakagawa M; Fujiwara Y; Matsushima M; Mizuno K; Tokuyama M; Hirota H; Muneuchi J; Higashinakagawa T; Matsuoka R
Nat Genet; 2007 Aug; 39(8):1013-7. PubMed ID: 17603482
[TBL] [Abstract][Full Text] [Related]
20. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
Schollen E; Matthijs G; Gewillig M; Fryns JP; Legius E
Eur J Hum Genet; 2003 Jan; 11(1):85-8. PubMed ID: 12529711
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
