130 related articles for article (PubMed ID: 30039904)
1. A genome-wide analysis of colorectal cancer in a child with Noonan syndrome.
Prasad RM; Mody RJ; Myers G; Mullins M; Naji Z; Geiger JD
Pediatr Blood Cancer; 2018 Nov; 65(11):e27362. PubMed ID: 30039904
[TBL] [Abstract][Full Text] [Related]
2. SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Swanson KD; Winter JM; Reis M; Bentires-Alj M; Greulich H; Grewal R; Hruban RH; Yeo CJ; Yassin Y; Iartchouk O; Montgomery K; Whitman SP; Caligiuri MA; Loh ML; Gilliland DG; Look AT; Kucherlapati R; Kern SE; Meyerson M; Neel BG
Genes Chromosomes Cancer; 2008 Mar; 47(3):253-9. PubMed ID: 18064648
[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. 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]
5. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Calcagni G; Baban A; De Luca E; Leonardi B; Pongiglione G; Digilio MC
Am J Med Genet A; 2016 Mar; 170(3):665-9. PubMed ID: 26686981
[TBL] [Abstract][Full Text] [Related]
6. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Denayer E; Devriendt K; de Ravel T; Van Buggenhout G; Smeets E; Francois I; Sznajer Y; Craen M; Leventopoulos G; Mutesa L; Vandecasseye W; Massa G; Kayserili H; Sciot R; Fryns JP; Legius E
Genes Chromosomes Cancer; 2010 Mar; 49(3):242-52. PubMed ID: 19953625
[TBL] [Abstract][Full Text] [Related]
7. Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
van Trier DC; Rinne T; Noordam K; Draaisma JM; van der Burgt I
Am J Med Genet A; 2017 Nov; 173(11):2968-2972. PubMed ID: 28884940
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [A case of Noonan Syndrome with coeliac disease due to SOS1 mutation].
Carcavilla Urquí A; Santomé Collazo JL; Barrio Castellanos R; Ezquieta Zubicaray B
Med Clin (Barc); 2011 Nov; 137(14):666-7. PubMed ID: 21524768
[No Abstract] [Full Text] [Related]
10. 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]
11. Acute lymphoblastic leukemia in the context of RASopathies.
Cavé H; Caye A; Strullu M; Aladjidi N; Vignal C; Ferster A; Méchinaud F; Domenech C; Pierri F; Contet A; Cacheux V; Irving J; Kratz C; Clavel J; Verloes A
Eur J Med Genet; 2016 Mar; 59(3):173-8. PubMed ID: 26855057
[TBL] [Abstract][Full Text] [Related]
12. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Mutesa L; Pierquin G; Janin N; Segers K; Thomée C; Provenzi M; Bours V
Cancer Genet Cytogenet; 2008 Apr; 182(1):40-2. PubMed ID: 18328949
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
Yoshida R; Ogata T; Masawa N; Nagai T
Pediatr Blood Cancer; 2008 Jun; 50(6):1274-6. PubMed ID: 18253957
[TBL] [Abstract][Full Text] [Related]
15. Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.
Salem B; Hofherr S; Turner J; Doros L; Smpokou P
J Pediatr Hematol Oncol; 2016 Nov; 38(8):e278-e282. PubMed ID: 27258033
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [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]
18. Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.
Mascheroni E; Digilio MC; Cortis E; Devito R; Sarkozy A; Capolino R; Dallapiccola B; Ugazio AG
Am J Med Genet A; 2008 Nov; 146A(22):2966-7. PubMed ID: 18925667
[No Abstract] [Full Text] [Related]
19. SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A; Olivini N; Lepri FR; Calì F; Mucciolo M; Digilio MC; Calcagni G; di Mambro C; Dallapiccola B; Adorisio R; Novelli A; Drago F
Am J Med Genet A; 2019 Oct; 179(10):2083-2090. PubMed ID: 31368652
[TBL] [Abstract][Full Text] [Related]
20. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F; De Luca A; Stella L; Rossi C; Baldassarre G; Pantaleoni F; Cordeddu V; Williams BJ; Dentici ML; Caputo V; Venanzi S; Bonaguro M; Kavamura I; Faienza MF; Pilotta A; Stanzial F; Faravelli F; Gabrielli O; Marino B; Neri G; Silengo MC; Ferrero GB; Torrrente I; Selicorni A; Mazzanti L; Digilio MC; Zampino G; Dallapiccola B; Gelb BD; Tartaglia M
Hum Mutat; 2011 Jul; 32(7):760-72. PubMed ID: 21387466
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
