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1976 1
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2008 2
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Page 1
Clinical Indications for Growth Hormone Therapy.
Danowitz M, Grimberg A. Danowitz M, et al. Adv Pediatr. 2022 Aug;69(1):203-217. doi: 10.1016/j.yapd.2022.03.005. Epub 2022 Jun 17. Adv Pediatr. 2022. PMID: 35985710 Free PMC article. Review.
Growth hormone (GH) is an injectable medication originally used to replace the deficiency of the hormone, but has expanded to treating conditions that may reduce growth and adult height even when the body maintains endogenous GH production. In the United States, there are 8
Growth hormone (GH) is an injectable medication originally used to replace the deficiency of the hormone, but has expanded to treating condi …
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM, Thain E, Barnett-Tapia C, Sadeghian H, Kim RH. Farncombe KM, et al. BMC Med Genomics. 2022 Jul 15;15(1):160. doi: 10.1186/s12920-022-01304-x. BMC Med Genomics. 2022. PMID: 35840934 Free PMC article. Review.
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. ...CASE PRESENTATION: A female patient was diagnosed with clinical NS at 8 months of age. She presented in adultho …
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardi …
Pectus excavatum and carinatum.
Cobben JM, Oostra RJ, van Dijk FS. Cobben JM, et al. Eur J Med Genet. 2014 Aug;57(8):414-7. doi: 10.1016/j.ejmg.2014.04.017. Epub 2014 May 10. Eur J Med Genet. 2014. PMID: 24821303 Review.
However, the most important and most frequently observed monogenic syndromes with pectus excavatum/carinatum are Marfan Syndrome and Noonan Syndrome....
However, the most important and most frequently observed monogenic syndromes with pectus excavatum/carinatum are Marfan Syndrome and …
Cardiac Phenotype and Gene Mutations in RASopathies.
Faienza MF, Meliota G, Mentino D, Ficarella R, Gentile M, Vairo U, D'amato G. Faienza MF, et al. Genes (Basel). 2024 Aug 2;15(8):1015. doi: 10.3390/genes15081015. Genes (Basel). 2024. PMID: 39202376 Free PMC article. Review.
Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes encoding components of the RAS/MAPK (mitogen-activated protein kinase) signaling pathway. In particular, Noonan syndrome (NS) …
Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes …
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 …
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.
CONCLUSION: We report a case of neonatal Noonan syndrome associated with RIT1 mutation. The clinical suspicion for Noonan syndrome was based only on the congenital heart defect, persistent monocytosis, and myeloproliferative process as the child lacked …
CONCLUSION: We report a case of neonatal Noonan syndrome associated with RIT1 mutation. The clinical suspicion for Noonan
Malignant diseases in Noonan syndrome and related disorders.
Hasle H. Hasle H. Horm Res. 2009 Dec;72 Suppl 2:8-14. doi: 10.1159/000243773. Epub 2009 Dec 22. Horm Res. 2009. PMID: 20029231 Review.
The overall risk of cancer in children with Noonan (NS), cardio-facial-cutaneous, Costello or LEOPARD syndrome is high, although no precise estimates are available. ...A review of the literature indicates an increased risk of acute lymphoblastic leukemia and acute m …
The overall risk of cancer in children with Noonan (NS), cardio-facial-cutaneous, Costello or LEOPARD syndrome is high, althou …
Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review.
Tiemens DK, Nugteren J, Leenders E, Wingbermühle E, Pittens CACM, Draaisma JMT. Tiemens DK, et al. Orphanet J Rare Dis. 2021 Oct 26;16(1):449. doi: 10.1186/s13023-021-02083-x. Orphanet J Rare Dis. 2021. PMID: 34702330 Free PMC article. Review.
BACKGROUND: Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK pathway. ...For this reason, in the Netherlands for example, a Dutch Noonan syndrome spectrum disorders research agenda is bein …
BACKGROUND: Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK p …
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.
Lo FS, Lin JL, Kuo MT, Chiu PC, Shu SG, Chao MC, Lee YJ, Lin SP. Lo FS, et al. Eur J Pediatr. 2009 Aug;168(8):919-23. doi: 10.1007/s00431-008-0858-z. Epub 2008 Oct 29. Eur J Pediatr. 2009. PMID: 18958496 Review.
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for muta
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio
Towards better understanding of giant cell granulomas of the oral cavity.
Ahmed A, Naidu A. Ahmed A, et al. J Clin Pathol. 2021 Aug;74(8):483-490. doi: 10.1136/jclinpath-2020-206858. Epub 2021 Apr 15. J Clin Pathol. 2021. PMID: 33858937 Review.
It is important to differentiate them from other giant cell lesions that can occur in the oral cavity, such as giant cell tumour of the bone, aneurysmal bone cyst, brown tumour of hyperparathyroidism, and giant cell lesions of Ramon syndrome, Noonan syndrome, …
It is important to differentiate them from other giant cell lesions that can occur in the oral cavity, such as giant cell tumour of the bone …
32 results