305 related articles for article (PubMed ID: 27699752)
1. [RIT1: a novel gene associated with Noonan syndrome].
Arroyo-Carrera I; Solo de Zaldivar-Tristancho M; Martin-Fernandez R; Vera-Torres M; Gonzalez de Buitrago-Amigo JF; Botet-Rodriguez J
Rev Neurol; 2016 Oct; 63(8):358-362. PubMed ID: 27699752
[TBL] [Abstract][Full Text] [Related]
2. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y; Niihori T; Banjo T; Okamoto N; Mizuno S; Kurosawa K; Ogata T; Takada F; Yano M; Ando T; Hoshika T; Barnett C; Ohashi H; Kawame H; Hasegawa T; Okutani T; Nagashima T; Hasegawa S; Funayama R; Nagashima T; Nakayama K; Inoue S; Watanabe Y; Ogura T; Matsubara Y
Am J Hum Genet; 2013 Jul; 93(1):173-80. PubMed ID: 23791108
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K; Lissewski C; Spranger S; Mitter D; Riess A; Lopez-Gonzalez V; Lüttgen S; Aydin H; von Deimling F; Evers C; Hahn A; Hempel M; Issa U; Kahlert AK; Lieb A; Villavicencio-Lorini P; Ballesta-Martinez MJ; Nampoothiri S; Ovens-Raeder A; Puchmajerová A; Satanovskij R; Seidel H; Unkelbach S; Zabel B; Kutsche K; Zenker M
Genet Med; 2016 Dec; 18(12):1226-1234. PubMed ID: 27101134
[TBL] [Abstract][Full Text] [Related]
5. A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Nemcikova M; Vejvalkova S; Fencl F; Sukova M; Krepelova A
Eur J Pediatr; 2016 Apr; 175(4):587-92. PubMed ID: 26518681
[TBL] [Abstract][Full Text] [Related]
6. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H; Caye A; Ghedira N; Capri Y; Pouvreau N; Fillot N; Trimouille A; Vignal C; Fenneteau O; Alembik Y; Alessandri JL; Blanchet P; Boute O; Bouvagnet P; David A; Dieux Coeslier A; Doray B; Dulac O; Drouin-Garraud V; Gérard M; Héron D; Isidor B; Lacombe D; Lyonnet S; Perrin L; Rio M; Roume J; Sauvion S; Toutain A; Vincent-Delorme C; Willems M; Baumann C; Verloes A
Eur J Hum Genet; 2016 Aug; 24(8):1124-31. PubMed ID: 26757980
[TBL] [Abstract][Full Text] [Related]
7. New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
Takahara S; Inoue SI; Miyagawa-Tomita S; Matsuura K; Nakashima Y; Niihori T; Matsubara Y; Saiki Y; Aoki Y
EBioMedicine; 2019 Apr; 42():43-53. PubMed ID: 30898653
[TBL] [Abstract][Full Text] [Related]
8. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
Koenighofer M; Hung CY; McCauley JL; Dallman J; Back EJ; Mihalek I; Gripp KW; Sol-Church K; Rusconi P; Zhang Z; Shi GX; Andres DA; Bodamer OA
Clin Genet; 2016 Mar; 89(3):359-66. PubMed ID: 25959749
[TBL] [Abstract][Full Text] [Related]
9. Recent advances in RASopathies.
Aoki Y; Niihori T; Inoue S; Matsubara Y
J Hum Genet; 2016 Jan; 61(1):33-9. PubMed ID: 26446362
[TBL] [Abstract][Full Text] [Related]
10. Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.
Leegaard A; Gregersen PA; Nielsen TØ; Bjerre JV; Handrup MM
Eur J Med Genet; 2022 Nov; 65(11):104630. PubMed ID: 36184070
[TBL] [Abstract][Full Text] [Related]
11. Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR; Yamamoto GL; Almeida TF; Buscarilli M; Jorge AA; Malaquias AC; Kim CA; Takahashi VN; Passos-Bueno MR; Pereira AC
Am J Med Genet A; 2014 Nov; 164A(11):2952-7. PubMed ID: 25124994
[TBL] [Abstract][Full Text] [Related]
12. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Milosavljević D; Overwater E; Tamminga S; de Boer K; Elting MW; van Hoorn ME; Rinne T; Houweling AC
Am J Med Genet A; 2016 Jul; 170(7):1874-80. PubMed ID: 27109146
[TBL] [Abstract][Full Text] [Related]
13. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].
Liu XH; Ding WW; Han L; Liu XR; Xiao YY; Yang J; Mo Y
Zhonghua Er Ke Za Zhi; 2017 Oct; 55(10):780-784. PubMed ID: 29050118
[No Abstract] [Full Text] [Related]
14. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.
Ramond F; Duband S; Croisille P; Cavé H; Teyssier G; Adouard V; Touraine R
Eur J Med Genet; 2017 Jun; 60(6):299-302. PubMed ID: 28347726
[TBL] [Abstract][Full Text] [Related]
15. Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.
Aly SA; Boyer KM; Muller BA; Marini D; Jones CH; Nguyen HH
Mol Genet Genomic Med; 2020 Jul; 8(7):e1253. PubMed ID: 32396283
[TBL] [Abstract][Full Text] [Related]
16. Cardiovascular disease in Noonan syndrome.
Pierpont ME; Digilio MC
Curr Opin Pediatr; 2018 Oct; 30(5):601-608. PubMed ID: 30024444
[TBL] [Abstract][Full Text] [Related]
17. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M; Sagi-Dain L; Krumbach OHF; Hahn A; Peleg A; German A; Lissewski C; Coppola S; Pantaleoni F; Kocherscheid L; Altmüller F; Schanze D; Logeswaran T; Chahrokh-Zadeh S; Munzig A; Nakhaei-Rad S; Cavé H; Ahmadian MR; Tartaglia M; Zenker M
Hum Mol Genet; 2020 Jul; 29(11):1772-1783. PubMed ID: 31108500
[TBL] [Abstract][Full Text] [Related]
18. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL; Alawi M; Amor DJ; Tan TY; Cuturilo G; Lissewski C; Brinkmann J; Schanze D; Kutsche K; Zenker M
Am J Med Genet A; 2018 Feb; 176(2):470-476. PubMed ID: 29271604
[TBL] [Abstract][Full Text] [Related]
19. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
Pires LVL; Bordim RA; Maciel MBR; Tanaka ACS; Yamamoto GL; Honjo RS; Kim CA; Bertola DR
Am J Med Genet A; 2021 Oct; 185(10):3099-3103. PubMed ID: 34080768
[TBL] [Abstract][Full Text] [Related]
20. A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
Nosan G; Bertok S; Vesel S; Yntema HG; Paro-Panjan D
Croat Med J; 2013 Dec; 54(6):574-8. PubMed ID: 24382853
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
