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
1979 1
1992 1
2000 2
2002 3
2003 3
2005 1
2006 1
2007 1
2008 2
2009 1
2010 1
2012 2
2015 2
2016 1
2017 3
2018 3
2019 3
2020 2
2021 4
2022 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

40 results

Results by year

Filters applied: . Clear all
Page 1
Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M. Zenker M, et al. Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4. Arch Dis Child. 2022. PMID: 35246453 Free PMC article. Review.
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. ...
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. ...
Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age.
Casto C, Pepe G, Li Pomi A, Corica D, Aversa T, Wasniewska M. Casto C, et al. Genes (Basel). 2021 Feb 4;12(2):222. doi: 10.3390/genes12020222. Genes (Basel). 2021. PMID: 33557156 Free PMC article. Review.
From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader-Willi …
From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome …
[PTPN11 and the deafness].
Xu HY, Yuan YY, Dai P. Xu HY, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):830-834. doi: 10.13201/j.issn.1001-1781.2019.09.008. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019. PMID: 31446698 Review. Chinese.
Summary PTPN11 gene encodes tyrosine phosphatase SHP-2 which locates on chromosome 12(12q24.1), expresses in most embryonic and adult tissues, and plays pivotal roles in cell proliferation, differentiation, survival and cell death. SHP-2 apparently participates in signalin …
Summary PTPN11 gene encodes tyrosine phosphatase SHP-2 which locates on chromosome 12(12q24.1), expresses in most embryonic and adult …
Etiology and Treatment of Growth Delay in Noonan Syndrome.
Rodríguez F, Gaete X, Cassorla F. Rodríguez F, et al. Front Endocrinol (Lausanne). 2021 Jun 4;12:691240. doi: 10.3389/fendo.2021.691240. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34149626 Free PMC article. Review.
Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. ...This review will discuss the possible etiologies for the growth delay, as well as the outcomes follow …
Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main caus …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency an …
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...Other as …
Systematic literature review of lymphatic imaging-guided procedural management of Noonan syndrome.
Cox TP, Vance CJ, Daley SK, Papendieck C, McGregor H, Kuo P, Witte MH. Cox TP, et al. J Vasc Surg Venous Lymphat Disord. 2022 Sep;10(5):1192-1196.e3. doi: 10.1016/j.jvsv.2022.03.017. Epub 2022 May 10. J Vasc Surg Venous Lymphat Disord. 2022. PMID: 35561969 Free PMC article. Review.
OBJECTIVES: To assess through literature case analysis how advances in lymphatic imaging, interventional radiology, and lymphatic vascular microsurgery illuminate and improve the lymphatic-flow status in select patients with Noonan syndrome (NS) who have undergone s …
OBJECTIVES: To assess through literature case analysis how advances in lymphatic imaging, interventional radiology, and lymphatic vascular m …
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G. Scorrano G, et al. Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111. Genes (Basel). 2023. PMID: 38136934 Free PMC article. Review.
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a cruc …
It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/ …
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
Siegfried A, Cances C, Denuelle M, Loukh N, Tauber M, Cavé H, Delisle MB. Siegfried A, et al. Am J Med Genet A. 2017 Apr;173(4):1061-1065. doi: 10.1002/ajmg.a.38108. Am J Med Genet A. 2017. PMID: 28328117 Review.
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. ...We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found …
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, development …
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 …
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 …
40 results