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

Year Number of Results
1989 1
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1993 1
1996 1
1998 1
1999 1
2001 1
2002 2
2003 2
2006 2
2007 4
2008 2
2009 1
2010 3
2011 1
2012 1
2013 3
2014 1
2015 2
2016 3
2018 5
2019 2
2020 3
2021 2
2022 3
2024 1

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48 results

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Page 1
Neuromyelitis optica spectrum disorders.
Huda S, Whittam D, Bhojak M, Chamberlain J, Noonan C, Jacob A. Huda S, et al. Clin Med (Lond). 2019 Mar;19(2):169-176. doi: 10.7861/clinmedicine.19-2-169. Clin Med (Lond). 2019. PMID: 30872305 Free PMC article. Review.
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postrema syndrome) are classic presentations of the disease and may alert the clinician to the diagnosis. Untreated, approximately 50% of N …
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postre …
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Tartaglia M, Aoki Y, Gelb BD. Tartaglia M, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):425-439. doi: 10.1002/ajmg.c.32012. Epub 2022 Nov 16. Am J Med Genet C Semin Med Genet. 2022. PMID: 36394128 Free PMC article. Review.
Here, we provide an overview on the discoveries collected during the last 5 years that have delivered unexpected insights (e.g., Noonan syndrome as a recessive disease) and allowed to profile new RASopathies, novel disease genes and new molecular circuits con …
Here, we provide an overview on the discoveries collected during the last 5 years that have delivered unexpected insights (e.g., N …
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 …
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 …
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 …
The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.
Noonan JA, Kappelgaard AM. Noonan JA, et al. Horm Res Paediatr. 2015;83(3):157-66. doi: 10.1159/000369012. Epub 2014 Dec 10. Horm Res Paediatr. 2015. PMID: 25503994 Free article. Review.
Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), wi …
Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) thera …
Cutaneous manifestations in Moyamoya angiopathy: A review.
Mitri F, Bersano A, Hervé D, Kraemer M. Mitri F, et al. Eur J Neurol. 2021 May;28(5):1784-1793. doi: 10.1111/ene.14754. Epub 2021 Mar 1. Eur J Neurol. 2021. PMID: 33486780 Review.
The disease may be idiopathic (known as Moyamoya disease) or associated with other heritable or acquired conditions, including type 1 neurofibromatosis or other RASopathies, sickle cell disease, Down syndrome, or autoimmune disorders (known as Moyamoya syndrome). Ap …
The disease may be idiopathic (known as Moyamoya disease) or associated with other heritable or acquired conditions, including type 1 neurof …
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
Wordsworth P, Chan M. Wordsworth P, et al. Calcif Tissue Int. 2019 May;104(5):530-543. doi: 10.1007/s00223-019-00543-y. Epub 2019 Apr 15. Calcif Tissue Int. 2019. PMID: 30989250 Review.
There are also similar germline mutations involved in a group of genetic disorders known as the RASopathies (including Noonan syndrome, Costello syndrome and various cardiofaciocutaneous syndromes), successful treatments for which could be applied to melorheo …
There are also similar germline mutations involved in a group of genetic disorders known as the RASopathies (including Noonan synd …
The role of the protein tyrosine phosphatase SHP2 in ossification.
Zhang Y, Lu W, Zhao Q, Chen J, Wang T, Ji J. Zhang Y, et al. Dev Dyn. 2022 May;251(5):748-758. doi: 10.1002/dvdy.449. Epub 2022 Jan 5. Dev Dyn. 2022. PMID: 34962674 Free article. Review.
PTPN11 loss-of-function and gain-of-function mutations are both associated with diseases, such as Noonan syndrome, whose manifestations include bone defects, suggesting a crucial role for SHP2 in the skeleton. ...
PTPN11 loss-of-function and gain-of-function mutations are both associated with diseases, such as Noonan syndrome, whose manif …
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M, Paccoud R, Branka S, Edouard T, Yart A. Tajan M, et al. Endocr Rev. 2018 Oct 1;39(5):676-700. doi: 10.1210/er.2017-00232. Endocr Rev. 2018. PMID: 29924299 Review.
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607 …
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with mul …
48 results