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Quoted phrase not found in phrase index: "Noonan syndrome 5"
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.
RESULTS: At the second interim analysis, after a median follow-up (from randomization to data cutoff) of 32.4 months (range, 24.0 to 48.3), pembrolizumab was superior to chemotherapy with respect to progression-free survival (median, 16.5 vs. 8.2 months; hazard ratio, 0.60 …
RESULTS: At the second interim analysis, after a median follow-up (from randomization to data cutoff) of 32.4 months (range, 24.0 to 48.3), …
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 …
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.
Cluster analysis was done using the clustering large applications k-medoids approach using clinical outcomes at 5 months. Inflammatory protein profiling was analysed from plasma at the 5-month visit. ...The proportion of patients reporting full recovery was unchange …
Cluster analysis was done using the clustering large applications k-medoids approach using clinical outcomes at 5 months. Inflammator …
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo F, Fachin A, Da Re B, Rubinato E, Bobbo M, Barbi E. Baldo F, et al. BMC Pediatr. 2022 Dec 24;22(1):734. doi: 10.1186/s12887-022-03804-2. BMC Pediatr. 2022. PMID: 36566191 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. ...The association between discrete variables has been evaluated through chi-squared test, indicating statistically significant p with Pearson test or Fischer test for variables …
BACKGROUND: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. ...The association between discrete v …
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 …
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S, Tan YX, Loh AYT, Tan KY, Lee H, Aziz Z, Nelson SF, Özkan E, Kayserili H, Escande-Beillard N, Reversade B. Wong S, et al. EMBO Mol Med. 2023 May 8;15(5):e17078. doi: 10.15252/emmm.202217078. Epub 2023 Apr 17. EMBO Mol Med. 2023. PMID: 37066513 Free PMC article.
In a consanguineous family, we uncovered a homozygous p.Thr543Met variant segregating with a neonatal lethal syndrome with cutaneous, craniofacial, cardiac, and limb anomalies. ...Collectively, our data disclose the genetic and molecular etiology of a novel lethal syndr …
In a consanguineous family, we uncovered a homozygous p.Thr543Met variant segregating with a neonatal lethal syndrome with cutaneous, …
Loose anagen hair.
Tosti A, Peluso AM, Misciali C, Venturo N, Patrizi A, Fanti PA. Tosti A, et al. Arch Dermatol. 1997 Sep;133(9):1089-93. Arch Dermatol. 1997. PMID: 9301585
SETTING: A university medical center. PATIENTS: Beginning in January 1990, 14 children and 5 adults (age range, 8 months to 47 years) were diagnosed as having LAH. Associated diseases included alopecia areata in a 3-year-old boy and Noonan syndrome in a 5 …
SETTING: A university medical center. PATIENTS: Beginning in January 1990, 14 children and 5 adults (age range, 8 months to 47 years) …
Personality and Psychopathology in Adults with Noonan Syndrome.
Roelofs RL, Wingbermühle E, van der Heijden PT, Jonkers R, de Haan M, Kessels RPC, Egger JIM. Roelofs RL, et al. J Clin Psychol Med Settings. 2020 Jun;27(2):256-267. doi: 10.1007/s10880-019-09659-7. J Clin Psychol Med Settings. 2020. PMID: 31560100 Free PMC article.
This is the first controlled study regarding personality and psychopathology in adults with Noonan syndrome (NS). Anxiety, depression, alexithymia and symptoms of Attention Deficit-Hyperactivity Disorder and Autism Spectrum Disorder, have been previously described i …
This is the first controlled study regarding personality and psychopathology in adults with Noonan syndrome (NS). Anxiety, dep …
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome.
Davico C, Borgogno M, Campagna F, D'Alessandro R, Ricci F, Amianto F, Mussa A, Carli D, Ferrero GB, Vitiello B. Davico C, et al. J Dev Behav Pediatr. 2022 Feb-Mar 01;43(2):e87-e93. doi: 10.1097/DBP.0000000000000991. J Dev Behav Pediatr. 2022. PMID: 34269737
OBJECTIVE: The objective of this study was to examine psychopathology and its impact on adaptive functioning in a sample of patients affected by Noonan syndrome (NS), a genetically heterogeneous condition with systemic manifestations. METHOD: Forty-two subjects affe …
OBJECTIVE: The objective of this study was to examine psychopathology and its impact on adaptive functioning in a sample of patients affecte …
Laser-assisted thermal capsulorrhaphy.
Noonan TJ, Tokish JM, Briggs KK, Hawkins RJ. Noonan TJ, et al. Arthroscopy. 2003 Oct;19(8):815-9. doi: 10.1016/s0749-8063(03)00737-0. Arthroscopy. 2003. PMID: 14551542 Review.
Of the remaining 42 patients, none underwent further surgery; the average follow-up time was 38.4 months (range, 24 to 66 months); and pain scores improved from 7.8 +/- 2.6 (1-10 scale) to 1.7 +/- 2.6. postoperatively. ...Painless overhead use of the shoulder improved from …
Of the remaining 42 patients, none underwent further surgery; the average follow-up time was 38.4 months (range, 24 to 66 months); and pain …
145 results