Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1986 1
1987 1
1988 1
1991 1
1992 2
1993 4
1995 1
1996 1
1997 6
1998 2
1999 3
2000 3
2001 5
2002 2
2003 5
2004 2
2005 8
2006 7
2007 4
2008 4
2009 9
2010 4
2011 10
2012 11
2013 9
2014 7
2015 8
2016 10
2017 7
2018 13
2019 16
2020 14
2021 18
2022 22
2023 21
2024 9

Text availability

Article attribute

Article type

Publication date

Search Results

223 results

Results by year

Filters applied: . Clear all
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.
METHODS: In this phase 3, open-label trial, 307 patients with metastatic MSI-H-dMMR colorectal cancer who had not previously received treatment were randomly assigned, in a 1:1 ratio, to receive pembrolizumab at a dose of 200 mg every 3 weeks or chemotherapy (5-fluorouraci …
METHODS: In this phase 3, open-label trial, 307 patients with metastatic MSI-H-dMMR colorectal cancer who had not previously received treatm …
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1. Am J Hum Genet. 2002. PMID: 11992261 Free PMC article.
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. ...A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, …
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skele …
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 …
Encephalocraniocutaneous Lipomatosis.
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R. Bavle A, et al. J Pediatr Hematol Oncol. 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. J Pediatr Hematol Oncol. 2018. PMID: 29683947
A 5-year-old boy presented with worsening headaches for 3 months. ...Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encepha …
A 5-year-old boy presented with worsening headaches for 3 months. ...Targeted sequencing of tissue from the right gluteal mass, revea …
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 …
Cardiovascular disease in Noonan syndrome.
Pierpont ME, Digilio MC. Pierpont ME, et al. Curr Opin Pediatr. 2018 Oct;30(5):601-608. doi: 10.1097/MOP.0000000000000669. Curr Opin Pediatr. 2018. PMID: 30024444 Review.
PURPOSE OF REVIEW: To provide information on the scope of cardiac disease in Noonan syndrome. RECENT FINDINGS: Noonan syndrome is a common autosomal dominant RASopathy disorder characterized by clinical findings of facial dysmorphism, congenital heart …
PURPOSE OF REVIEW: To provide information on the scope of cardiac disease in Noonan syndrome. RECENT FINDINGS: Noonan …
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 …
RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y. Handa A, et al. Radiographics. 2024 May;44(5):e230153. doi: 10.1148/rg.230153. Radiographics. 2024. PMID: 38602868
RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome …
RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regula …
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 …
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 …
223 results