280 related articles for article (PubMed ID: 18394382)
1. [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]
2. 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]
3. 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]
4. 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]
5. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
Hanna N; Parfait B; Talaat IM; Vidaud M; Elsedfy HH
Clin Genet; 2009 Jun; 75(6):568-71. PubMed ID: 19438935
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M; Pennacchio LA; Zhao C; Yadav KK; Fodale V; Sarkozy A; Pandit B; Oishi K; Martinelli S; Schackwitz W; Ustaszewska A; Martin J; Bristow J; Carta C; Lepri F; Neri C; Vasta I; Gibson K; Curry CJ; Siguero JP; Digilio MC; Zampino G; Dallapiccola B; Bar-Sagi D; Gelb BD
Nat Genet; 2007 Jan; 39(1):75-9. PubMed ID: 17143282
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
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. 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]
15. Expanding the genetic spectrum of Noonan syndrome.
Noordam K
Horm Res; 2007; 68 Suppl 5():24-7. PubMed ID: 18174700
[TBL] [Abstract][Full Text] [Related]
16. [New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1].
Dereure O
Ann Dermatol Venereol; 2008; 135(8-9):624-5. PubMed ID: 18789305
[No Abstract] [Full Text] [Related]
17. External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC; van Nierop J; Draaisma JMT; van der Burgt I; Kunst H; Croonen EA; Admiraal RJC
Int J Pediatr Otorhinolaryngol; 2015 Jun; 79(6):874-878. PubMed ID: 25862627
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Genotype differences in cognitive functioning in Noonan syndrome.
Pierpont EI; Pierpont ME; Mendelsohn NJ; Roberts AE; Tworog-Dube E; Seidenberg MS
Genes Brain Behav; 2009 Apr; 8(3):275-82. PubMed ID: 19077116
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
