265 related articles for article (PubMed ID: 27942422)
1. Expansion of the RASopathies.
Tidyman WE; Rauen KA
Curr Genet Med Rep; 2016 Sep; 4(3):57-64. PubMed ID: 27942422
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL; Aguena M; Gos M; Hung C; Pilch J; Fahiminiya S; Abramowicz A; Cristian I; Buscarilli M; Naslavsky MS; Malaquias AC; Zatz M; Bodamer O; Majewski J; Jorge AA; Pereira AC; Kim CA; Passos-Bueno MR; Bertola DR
J Med Genet; 2015 Jun; 52(6):413-21. PubMed ID: 25795793
[TBL] [Abstract][Full Text] [Related]
4. Undiagnosed RASopathies in infertile men.
Juchnewitsch AG; Pomm K; Dutta A; Tamp E; Valkna A; Lillepea K; Mahyari E; Tjagur S; Belova G; Kübarsepp V; Castillo-Madeen H; Riera-Escamilla A; Põlluaas L; Nagirnaja L; Poolamets O; Vihljajev V; Sütt M; Versbraegen N; Papadimitriou S; McLachlan RI; Jarvi KA; Schlegel PN; Tennisberg S; Korrovits P; Vigh-Conrad K; O'Bryan MK; Aston KI; Lenaerts T; Conrad DF; Kasak L; Punab M; Laan M
Front Endocrinol (Lausanne); 2024; 15():1312357. PubMed ID: 38654924
[TBL] [Abstract][Full Text] [Related]
5. RASopathies and cardiac manifestations.
Hilal N; Chen Z; Chen MH; Choudhury S
Front Cardiovasc Med; 2023; 10():1176828. PubMed ID: 37529712
[TBL] [Abstract][Full Text] [Related]
6. Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?
Lissewski C; Kant SG; Stark Z; Schanze I; Zenker M
Am J Med Genet A; 2015 Nov; 167A(11):2685-90. PubMed ID: 25974318
[TBL] [Abstract][Full Text] [Related]
7. Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.
Chen JL; Zhu X; Zhao TL; Wang J; Yang YF; Tan ZP
Mol Cytogenet; 2014; 7():28. PubMed ID: 24739123
[TBL] [Abstract][Full Text] [Related]
8. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H; Li X; Liu X; Wang J; Zhang Z; Wu J; Huang M; Guo Y; Li F; Wang X; Fu L
Orphanet J Rare Dis; 2019 Feb; 14(1):29. PubMed ID: 30732632
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Pathogenetics of the RASopathies.
Tidyman WE; Rauen KA
Hum Mol Genet; 2016 Oct; 25(R2):R123-R132. PubMed ID: 27412009
[TBL] [Abstract][Full Text] [Related]
11. Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >
Demir S; Yaşar Köstek H; Sanrı A; Yıldırım R; Özgüç Çömlek F; Yalçıntepe S; Deveci M; Atlı Eİ; Atlı E; Eker D; Gürkan H; Tütüncüler Kökenli F
Mol Syndromol; 2022 Feb; 13(2):88-98. PubMed ID: 35418823
[TBL] [Abstract][Full Text] [Related]
12. Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A; Cambra A; Santomé JL; Seidel V; Cruz J; Alonso M; Pozo J; Valenzuela I; Guillén-Navarro E; Santos-Simarro F; González-Casado I; Rodríguez A; Medrano C; López-Siguero JP; Ezquieta B
J Clin Med; 2023 Jul; 12(15):. PubMed ID: 37568403
[TBL] [Abstract][Full Text] [Related]
13. RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N; Gomes ME; de Oliveira Moraes I; Cantagalli Pfisterer J; Loss de Morais G; Antunes D; Caffarena ER; Llerena J; Gonzalez S
Appl Clin Genet; 2022; 15():153-170. PubMed ID: 36304179
[TBL] [Abstract][Full Text] [Related]
14. Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
Catts DS; Mroske C; Clark RO; Hipp SJ; Berg JM; Hunter JM; Whiteway SL
J Pediatr Hematol Oncol; 2021 May; 43(4):e517-e520. PubMed ID: 32815881
[TBL] [Abstract][Full Text] [Related]
15. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
[TBL] [Abstract][Full Text] [Related]
16. The RASopathies.
Rauen KA
Annu Rev Genomics Hum Genet; 2013; 14():355-69. PubMed ID: 23875798
[TBL] [Abstract][Full Text] [Related]
17. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Flex E; Jaiswal M; Pantaleoni F; Martinelli S; Strullu M; Fansa EK; Caye A; De Luca A; Lepri F; Dvorsky R; Pannone L; Paolacci S; Zhang SC; Fodale V; Bocchinfuso G; Rossi C; Burkitt-Wright EM; Farrotti A; Stellacci E; Cecchetti S; Ferese R; Bottero L; Castro S; Fenneteau O; Brethon B; Sanchez M; Roberts AE; Yntema HG; Van Der Burgt I; Cianci P; Bondeson ML; Cristina Digilio M; Zampino G; Kerr B; Aoki Y; Loh ML; Palleschi A; Di Schiavi E; Carè A; Selicorni A; Dallapiccola B; Cirstea IC; Stella L; Zenker M; Gelb BD; Cavé H; Ahmadian MR; Tartaglia M
Hum Mol Genet; 2014 Aug; 23(16):4315-27. PubMed ID: 24705357
[TBL] [Abstract][Full Text] [Related]
18. miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes.
de Carvalho JB; de Morais GL; Vieira TCDS; Rabelo NC; Llerena JC; Gonzalez SMC; de Vasconcelos ATR
Front Genet; 2019; 10():1144. PubMed ID: 31798637
[TBL] [Abstract][Full Text] [Related]
19. Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M; Fidan M; Bellacchio E; Pantaleoni F; Schneider-Heieck K; Coppola S; Borck G; Salviati L; Zenker M; Cirstea IC; Tartaglia M
Hum Mol Genet; 2019 Mar; 28(6):1007-1022. PubMed ID: 30481304
[TBL] [Abstract][Full Text] [Related]
20. The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Tartaglia M; Aoki Y; Gelb BD
Am J Med Genet C Semin Med Genet; 2022 Dec; 190(4):425-439. PubMed ID: 36394128
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]