337 related articles for article (PubMed ID: 21340158)
1. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
Brasil AS; Malaquias AC; Wanderley LT; Kim CA; Krieger JE; Jorge AA; Pereira AC; Bertola DR
Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):717-22. PubMed ID: 21340158
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. [SOS1 mutation: a new cause of Noonan syndrome].
Serrano-Martín MM; Martínez-Aedo MJ; Tartaglia M; López-Siguero JP
An Pediatr (Barc); 2008 Apr; 68(4):365-8. PubMed ID: 18394382
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Longoni M; Moncini S; Cisternino M; Morella IM; Ferraiuolo S; Russo S; Mannarino S; Brazzelli V; Coi P; Zippel R; Venturin M; Riva P
Am J Med Genet A; 2010 Sep; 152A(9):2176-84. PubMed ID: 20683980
[TBL] [Abstract][Full Text] [Related]
11. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
Beneteau C; Cavé H; Moncla A; Dorison N; Munnich A; Verloes A; Leheup B
Eur J Hum Genet; 2009 Oct; 17(10):1216-21. PubMed ID: 19352411
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The face of Noonan syndrome: Does phenotype predict genotype.
Allanson JE; Bohring A; Dörr HG; Dufke A; Gillessen-Kaesbach G; Horn D; König R; Kratz CP; Kutsche K; Pauli S; Raskin S; Rauch A; Turner A; Wieczorek D; Zenker M
Am J Med Genet A; 2010 Aug; 152A(8):1960-6. PubMed ID: 20602484
[TBL] [Abstract][Full Text] [Related]
14. Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
Moncini S; Bonati MT; Morella I; Ferrari L; Brambilla R; Riva P
Eur J Hum Genet; 2015 Nov; 23(11):1531-7. PubMed ID: 25712082
[TBL] [Abstract][Full Text] [Related]
15. Response to growth hormone in short children with Noonan syndrome: correlation to genotype.
Binder G
Horm Res; 2009 Dec; 72 Suppl 2():52-6. PubMed ID: 20029239
[TBL] [Abstract][Full Text] [Related]
16. The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh AL; Tan ES; Brett MS; Lai AHM; Jamuar SS; Ng I; Tan EC
Mol Genet Genomic Med; 2019 Apr; 7(4):e00581. PubMed ID: 30784236
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
Yagasaki H; Nakane T; Hasebe Y; Watanabe A; Kise H; Toda T; Koizumi K; Hoshiai M; Sugita K
Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
[TBL] [Abstract][Full Text] [Related]
19. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G; Papadopoulou A; Kosma K; Papadimitriou A; Papaevangelou V; Kanaka-Gantenbein C; Bountouvi E; Kitsiou-Tzeli S
Eur J Pediatr; 2022 Oct; 181(10):3691-3700. PubMed ID: 35904599
[TBL] [Abstract][Full Text] [Related]
20. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.
Shchelochkov OA; Patel A; Weissenberger GM; Chinault AC; Wiszniewska J; Fernandes PH; Eng C; Kukolich MK; Sutton VR
Am J Med Genet A; 2008 Apr; 146A(8):1042-8. PubMed ID: 18348260
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]