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Quoted phrase not found in phrase index: "Noonan syndrome 7"
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). ...An overall response (complete or partial response), as evaluated with Response Evaluation Criteria in Solid Tumor …
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 …
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 …
FINDINGS: 2320 participants discharged from hospital between March 7, 2020, and April 18, 2021, were assessed at 5 months after disch …
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 …
Cherubism: best clinical practice.
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Papadaki ME, et al. Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. Epub 2012 May 24. Orphanet J Rare Dis. 2012. PMID: 22640403 Free PMC article. Review.
Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. ...Lesions in the aggressive form of cherubism occur in young children and are large, rapidly g …
Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions pro …
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. ...Chromosome 15q24 microdeletion syndrome should be differentiated from other genetic syndromes, particularly velo-cardio-fa …
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 indiv …
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. ...Patients with MLVWT z-score >13.7 showed reduced survi …
BACKGROUND: We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndr …
Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome.
Rohrer TR, Abuzzahab J, Backeljauw P, Birkegård AC, Blair J, Dahlgren J, Júlíusson PB, Ostrow V, Pietropoli A, Polak M, Romano A, Ross J, Sävendahl L, Miller BS. Rohrer TR, et al. Horm Res Paediatr. 2020;93(6):380-395. doi: 10.1159/000512429. Epub 2021 Jan 13. Horm Res Paediatr. 2020. PMID: 33440388 Free article.
INTRODUCTION: Few data exist on long-term growth hormone (GH) treatment in patients with Noonan syndrome (NS). OBJECTIVE: To evaluate the effectiveness and safety of GH treatment in NS in clinical practice. ...The safety analysis included 412 patients, and the effec …
INTRODUCTION: Few data exist on long-term growth hormone (GH) treatment in patients with Noonan syndrome (NS). OBJECTIVE: To e …
Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.
Schütte P, Möricke A, Zimmermann M, Bleckmann K, Reismüller B, Attarbaschi A, Mann G, Bodmer N, Niggli F, Schrappe M, Stanulla M, Kratz CP. Schütte P, et al. Eur J Med Genet. 2016 Mar;59(3):143-51. doi: 10.1016/j.ejmg.2015.12.008. Epub 2015 Dec 28. Eur J Med Genet. 2016. PMID: 26732628 Review.
Patients enrolled into study AIEOP-BFM ALL 2009 - which was initiated subsequent to AIEP-BFM ALL 2000 - who were reported with a cancer prone syndrome or chromosomal abnormality were additionally included in this study to increase conclusiveness of observations. ... …
Patients enrolled into study AIEOP-BFM ALL 2009 - which was initiated subsequent to AIEP-BFM ALL 2000 - who were reported with a cancer pron …
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
Lamouroux A, Dauge C, Wells C, Mousty E, Pinson L, Cavé H, Capri Y, Faure JM, Grosjean F, Sauvestre F, Attié-Bitach T, Pelluard F, Geneviève D. Lamouroux A, et al. Prenat Diagn. 2022 May;42(5):574-582. doi: 10.1002/pd.6133. Epub 2022 Mar 22. Prenat Diagn. 2022. PMID: 35278234
OBJECTIVES: The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization. METHODS: This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2 …
OBJECTIVES: The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization. METHODS: This multicen …
106 results