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

Year Number of Results
1998 2
1999 1
2000 1
2003 2
2006 1
2007 1
2008 3
2009 3
2010 3
2012 2
2013 1
2014 1
2015 3
2016 3
2020 2
2022 1
2023 1
2024 1

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28 results

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Page 1
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 …
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. ...Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficul …
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. ...Cardiac …
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
Noonan syndrome and related disorders: alterations in growth and puberty.
Noonan JA. Noonan JA. Rev Endocr Metab Disord. 2006 Dec;7(4):251-5. doi: 10.1007/s11154-006-9021-1. Rev Endocr Metab Disord. 2006. PMID: 17177115 Free PMC article. Review.
Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies, short stature and congenital heart disease, most commonly pulmonary stenosis (Noonan, Clin Pediatr, 33:548-555, 1994). Recently, a mutation in the PTPN11
Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies, short stature and con
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 …
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 …
Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.
Aly SA, Boyer KM, Muller BA, Marini D, Jones CH, Nguyen HH. Aly SA, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1253. doi: 10.1002/mgg3.1253. Epub 2020 May 12. Mol Genet Genomic Med. 2020. PMID: 32396283 Free PMC article. Review.
Genetic testing revealed that the patient had a heterozygous c.221 C>G (pAla74Gly) mutation in the RIT1. CONCLUSION: We report a case of neonatal Noonan syndrome associated with RIT1 mutation. The clinical suspicion for Noonan syndrome was based onl …
Genetic testing revealed that the patient had a heterozygous c.221 C>G (pAla74Gly) mutation in the RIT1. CONCLUSION: We report a case of …
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. ...
Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions pro …
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A. Nemcikova M, et al. Eur J Pediatr. 2016 Apr;175(4):587-92. doi: 10.1007/s00431-015-2658-6. Epub 2015 Oct 31. Eur J Pediatr. 2016. PMID: 26518681 Review.
Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other abnormalities. ...Thus, the case broadens variability of hematologic symptoms in RIT1 posi
Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developme
28 results