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Quoted phrase not found in phrase index: "Noonan syndrome 10"
Page 1
Noonan syndrome.
Turner AM. Turner AM. J Paediatr Child Health. 2014 Oct;50(10):E14-20. doi: 10.1111/j.1440-1754.2010.01970.x. Epub 2011 Jul 19. J Paediatr Child Health. 2014. PMID: 21771153 Review.
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. ...
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. ...
Clinical response to belumosudil in bronchiolitis obliterans syndrome: a combined analysis from 2 prospective trials.
DeFilipp Z, Kim HT, Yang Z, Noonan J, Blazar BR, Lee SJ, Pavletic SZ, Cutler C. DeFilipp Z, et al. Blood Adv. 2022 Dec 27;6(24):6263-6270. doi: 10.1182/bloodadvances.2022008095. Blood Adv. 2022. PMID: 36083121 Free PMC article.
Chronic graft-versus-host disease (cGVHD) of the lung, or bronchiolitis obliterans syndrome (BOS), is a high-risk disease manifestation associated with poor outcomes. ...We identified 59 subjects with BOS who were enrolled and treated in 2 prospective clinical trials of be …
Chronic graft-versus-host disease (cGVHD) of the lung, or bronchiolitis obliterans syndrome (BOS), is a high-risk disease manifestati …
Thirty-year outcome in children with hypertrophic cardiomyopathy based on the type.
Tsuda E, Ito Y, Kato Y, Sakaguchi H, Ohuchi H, Kurosaki K. Tsuda E, et al. J Cardiol. 2022 Dec;80(6):557-562. doi: 10.1016/j.jjcc.2022.07.016. Epub 2022 Aug 10. J Cardiol. 2022. PMID: 35961804 Free article. Review.
RESULTS: The age at the time of the diagnosis ranged from 0 to 15 years with a median of 8 years. The number of patients with Noonan syndrome and hypertrophic obstructive cardiomyopathy (HOCM), idiopathic HCM (i-HCM), and secondary HCM (s-HCM) was 13, 13, 65, and 9 …
RESULTS: The age at the time of the diagnosis ranged from 0 to 15 years with a median of 8 years. The number of patients with Noonan
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G, Papadopoulou A, Kosma K, Papadimitriou A, Papaevangelou V, Kanaka-Gantenbein C, Bountouvi E, Kitsiou-Tzeli S. Papadopoulos G, et al. Eur J Pediatr. 2022 Oct;181(10):3691-3700. doi: 10.1007/s00431-022-04574-w. Epub 2022 Jul 29. Eur J Pediatr. 2022. PMID: 35904599
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. ...The significant prevalence of the Ras/MAPK pathogenic variants (17.4%), other than PTPN11, in Greek NS patients, highlights the necessity of a wider spectr
Noonan syndrome (NS) is an autosomal dominant disorder characterized by clinical and genetic heterogeneity. ...The significant
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A, Vitiello B, Ferrero GB. Davico C, et al. Eur J Pediatr. 2022 Aug;181(8):2919-2926. doi: 10.1007/s00431-022-04497-6. Epub 2022 May 16. Eur J Pediatr. 2022. PMID: 35575813
Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in the Ras/Mitogen-activated protein kinase pathway. ...The study included all the patients aged 5-21 years who had been diagnosed with NS or of
Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in th
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Noronha RM, Villares SMF, Torres N, Quedas EPS, Homma TK, Albuquerque EVA, Moraes MB, Funari MFA, Bertola DR, Jorge AAL, Malaquias AC. Noronha RM, et al. Am J Med Genet A. 2021 Mar;185(3):774-780. doi: 10.1002/ajmg.a.62039. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33382187
Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. ...
Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. ...
Juvenile myelomonocytic leukaemia and Noonan syndrome.
Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H. Strullu M, et al. J Med Genet. 2014 Oct;51(10):689-97. doi: 10.1136/jmedgenet-2014-102611. Epub 2014 Aug 5. J Med Genet. 2014. PMID: 25097206
BACKGROUND: Infants with Noonan syndrome (NS) are predisposed to developing juvenile myelomonocytic leukaemia (JMML) or JMML-like myeloproliferative disorders (MPD). ...Although the risk of developing MPD/JMML could not be fully predicted by the underlying PT …
BACKGROUND: Infants with Noonan syndrome (NS) are predisposed to developing juvenile myelomonocytic leukaemia (JMML) or JMML-l …
Pulmonary lymphangiectasia revisited.
Bouchard S, Di Lorenzo M, Youssef S, Simard P, Lapierre JG. Bouchard S, et al. J Pediatr Surg. 2000 May;35(5):796-800. doi: 10.1053/jpsu.2000.6086. J Pediatr Surg. 2000. PMID: 10813353
Six were aborted between 19 to 24 weeks of gestation for multiple malformations or anencephaly, and 2 spontaneously aborted: one with PL only, the other with twin-twin transfusion syndrome. Clinical PL was diagnosed between 0 and 11 months of age. ...One child with bilater …
Six were aborted between 19 to 24 weeks of gestation for multiple malformations or anencephaly, and 2 spontaneously aborted: one with PL onl …
The multifaceted nature of IL-10: regulation, role in immunological homeostasis and its relevance to cancer, COVID-19 and post-COVID conditions.
Carlini V, Noonan DM, Abdalalem E, Goletti D, Sansone C, Calabrone L, Albini A. Carlini V, et al. Front Immunol. 2023 Jun 8;14:1161067. doi: 10.3389/fimmu.2023.1161067. eCollection 2023. Front Immunol. 2023. PMID: 37359549 Free PMC article. Review.
Given the pivotal role of IL-10 in immune modulation, this cytokine could have relevant implications in pathologies characterized by hyperinflammatory state, such as cancer, or infectious diseases as in the case of COVID-19 and Post-COVID-19 syndrome. Recent evidence propo …
Given the pivotal role of IL-10 in immune modulation, this cytokine could have relevant implications in pathologies characterized by hyperin …
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP. Boleti O, et al. ESC Heart Fail. 2024 Apr;11(2):923-936. doi: 10.1002/ehf2.14637. Epub 2024 Jan 13. ESC Heart Fail. 2024. PMID: 38217456 Free PMC article.
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose …
We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome
74 results