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Quoted phrase not found in phrase index: "Noonan syndrome 12"
Page 1
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators. André T, et al. N Engl J Med. 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. N Engl J Med. 2020. PMID: 33264544 Free article. Clinical Trial.
The estimated restricted mean survival after 24 months of follow-up was 13.7 months (range, 12.0 to 15.4) as compared with 10.8 months (range, 9.4 to 12.2). ...
The estimated restricted mean survival after 24 months of follow-up was 13.7 months (range, 12.0 to 15.4) as compared with 10.8 month …
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P. Mohan P, et al. Ultrasound Obstet Gynecol. 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. Ultrasound Obstet Gynecol. 2022. PMID: 34358384 Free PMC article.
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic variants implicated in 25 dominant conditions. The con …
METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-g …
Noonan syndrome and pregnancy outcomes.
Chow CA, Campbell KH, Chou JC, Elder RW. Chow CA, et al. Cardiol Young. 2022 Dec;32(12):1925-1929. doi: 10.1017/S104795112100514X. Epub 2022 Jan 17. Cardiol Young. 2022. PMID: 35034678
BACKGROUND: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan
BACKGROUND: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis …
Randomized Trial of BCG Vaccine to Protect against Covid-19 in Health Care Workers.
Pittet LF, Messina NL, Orsini F, Moore CL, Abruzzo V, Barry S, Bonnici R, Bonten M, Campbell J, Croda J, Dalcolmo M, Gardiner K, Gell G, Germano S, Gomes-Silva A, Goodall C, Gwee A, Jamieson T, Jardim B, Kollmann TR, Lacerda MVG, Lee KJ, Lucas M, Lynn DJ, Manning L, Marshall HS, McDonald E, Munns CF, Nicholson S, O'Connell A, de Oliveira RD, Perlen S, Perrett KP, Prat-Aymerich C, Richmond PC, Rodriguez-Baño J, Dos Santos G, da Silva PV, Teo JW, Villanueva P, Warris A, Wood NJ, Davidson A, Curtis N; BRACE Trial Consortium Group. Pittet LF, et al. N Engl J Med. 2023 Apr 27;388(17):1582-1596. doi: 10.1056/NEJMoa2212616. N Engl J Med. 2023. PMID: 37099341 Free PMC article. Clinical Trial.
METHODS: In this international, double-blind, placebo-controlled trial, we randomly assigned health care workers to receive the BCG-Denmark vaccine or saline placebo and followed them for 12 months. Symptomatic Covid-19 and severe Covid-19, the primary outcomes, were asses …
METHODS: In this international, double-blind, placebo-controlled trial, we randomly assigned health care workers to receive the BCG-Denmark …
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. ...Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noon
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardia …
Clinical characteristics with inflammation profiling of long COVID and association with 1-year recovery following hospitalisation in the UK: a prospective observational study.
PHOSP-COVID Collaborative Group. PHOSP-COVID Collaborative Group. Lancet Respir Med. 2022 Aug;10(8):761-775. doi: 10.1016/S2213-2600(22)00127-8. Epub 2022 Apr 23. Lancet Respir Med. 2022. PMID: 35472304 Free PMC article.
FINDINGS: 2320 participants discharged from hospital between March 7, 2020, and April 18, 2021, were assessed at 5 months after discharge and 807 (32.7%) participants completed both the 5-month and 1-year visits. 279 (35.6%) of these 807 patients were women and 505 (64.4%) were m …
FINDINGS: 2320 participants discharged from hospital between March 7, 2020, and April 18, 2021, were assessed at 5 months after discharge an …
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
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
Dunnett-Kane V, Burkitt-Wright E, Blackhall FH, Malliri A, Evans DG, Lindsay CR. Dunnett-Kane V, et al. Ann Oncol. 2020 Jul;31(7):873-883. doi: 10.1016/j.annonc.2020.03.291. Epub 2020 Mar 30. Ann Oncol. 2020. PMID: 32240795 Free PMC article. Review.
Somatic mutations in RAS and related pathway genes such as NF1 have been strongly implicated in the development of cancer while also being implicated in a diverse group of developmental disorders named the 'RASopathies', including neurofibromatosis type 1 (NF1), Noonan
Somatic mutations in RAS and related pathway genes such as NF1 have been strongly implicated in the development of cancer while also being i …
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G. Monda E, et al. Circ Genom Precis Med. 2023 Aug;16(4):350-358. doi: 10.1161/CIRCGEN.122.003861. Epub 2023 May 18. Circ Genom Precis Med. 2023. PMID: 37199218
BACKGROUND: We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. ...The primary study end point was a composite of cardiovascular death, he …
BACKGROUND: We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndr
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.
Tiemens DK, Kleimeier L, Leenders E, Wingbermühle E, Roelofs RL, Sibbles B, Oostwegel FSM, Vroonland E, van Leeuwen C, Niessen H, Sonnega P, Duursma A, Willemsen MAAP, Draaisma JMT, Pittens CACM. Tiemens DK, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):198. doi: 10.1186/s13023-023-02818-y. Orphanet J Rare Dis. 2023. PMID: 37480127 Free PMC article.
BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. ...For instance, it is remarkable that both the current Clinical Guidelines …
BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest g …
156 results