Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-019-1151-0.pdf
Reference26 articles.
1. Chen H, Li X, Liu X, Wang J, Zhang Z, Wu J, Huang M, Guo Y, Li F, Wang X, Fu L. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet J Rare Dis. 2019;14(1):29–019-1010-z.
2. 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. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Int J Cardiol. 2017;245:92–8.
3. 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. Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Data Brief. 2017;16:649–54.
4. Laredo M, Khraiche D, Raisky O, Gaudin R, Bajolle F, Maltret A, Chevret S, Bonnet D, Vouhe PR. Long-term results of the modified Konno procedure in high-risk children with obstructive hypertrophic cardiomyopathy. J Thorac Cardiovasc Surg. 2018;156(6):2285–94 e2.
5. Hanna N, Montagner A, Lee WH, Miteva M, Vidal M, Vidaud M, Parfait B, Raynal P. Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. FEBS Lett. 2006;580(10):2477–82.
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1. Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy;ESC Heart Failure;2024-01-13
2. Diretriz sobre Diagnóstico e Tratamento da Cardiomiopatia Hipertrófica – 2024;Arquivos Brasileiros de Cardiologia;2024
3. Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - 2024;Arquivos Brasileiros de Cardiologia;2024
4. Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines;Circulation: Genomic and Precision Medicine;2023-08
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