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4. Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features. Priolo M; Mancini C; Radio FC; Chiriatti L; Ciolfi A; Cappelletti C; Cordeddu V; Pintomalli L; Brusco A; Mammi C; Tartaglia M Am J Med Genet C Semin Med Genet; 2023 Jun; 193(2):160-166. PubMed ID: 36734411 [TBL] [Abstract][Full Text] [Related]
5. Cardiac Phenotype and Gene Mutations in RASopathies. Faienza MF; Meliota G; Mentino D; Ficarella R; Gentile M; Vairo U; D'amato G Genes (Basel); 2024 Aug; 15(8):. PubMed ID: 39202376 [TBL] [Abstract][Full Text] [Related]
6. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Calcagni G; Limongelli G; D'Ambrosio A; Gesualdo F; Digilio MC; Baban A; Albanese SB; Versacci P; De Luca E; Ferrero GB; Baldassarre G; Agnoletti G; Banaudi E; Marek J; Kaski JP; Tuo G; Russo MG; Pacileo G; Milanesi O; Messina D; Marasini M; Cairello F; Formigari R; Brighenti M; Dallapiccola B; Tartaglia M; Marino B Int J Cardiol; 2017 Oct; 245():92-98. PubMed ID: 28768581 [TBL] [Abstract][Full Text] [Related]
8. Noonan syndrome: a clinical description emphasizing the cardiac findings. Noonan J; O'Connor W Acta Paediatr Jpn; 1996 Feb; 38(1):76-83. PubMed ID: 8992867 [No Abstract] [Full Text] [Related]
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10. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. Uludağ Alkaya D; Lissewski C; Yeşil G; Zenker M; Tüysüz B Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824 [TBL] [Abstract][Full Text] [Related]
11. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong. Yu KPT; Luk HM; Leung GKC; Mak CCY; Cheng SSW; Hau EWL; Chan DKH; Lam STS; Tong TMF; Chung BHY; Lo IFM Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080 [TBL] [Abstract][Full Text] [Related]
12. Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. Suzuki H; Takenouchi T; Uehara T; Takasago S; Ihara S; Yoshihashi H; Kosaki K Am J Med Genet A; 2019 Aug; 179(8):1628-1630. PubMed ID: 31173466 [TBL] [Abstract][Full Text] [Related]
13. Generation of a genetically-modified induced pluripotent stem cell line harboring a Noonan syndrome-associated gene variant MRAS p.G23V. Busley AV; Cyganek L Stem Cell Res; 2023 Jun; 69():103108. PubMed ID: 37141804 [TBL] [Abstract][Full Text] [Related]
15. 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]
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17. 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]
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