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Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.
Yu C, Lyn N, Li D, Mei S, Liu L, Shang Q. Yu C, et al. Eur J Med Genet. 2023 Jan;66(1):104675. doi: 10.1016/j.ejmg.2022.104675. Epub 2022 Nov 30. Eur J Med Genet. 2023. PMID: 36460282 Review.
We analyzed the clinical characteristics of all patients with Noonan syndrome caused by RRAS2 variants and reviewed the literature. This discovery expands the genetic and phenotypic spectrum of Noonan syndrome....
We analyzed the clinical characteristics of all patients with Noonan syndrome caused by RRAS2 variants and reviewed the litera …
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
Stagi S, Ferrari V, Ferrari M, Priolo M, Tartaglia M. Stagi S, et al. Front Endocrinol (Lausanne). 2022 Aug 18;13:951331. doi: 10.3389/fendo.2022.951331. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36060964 Free PMC article. Review.
Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital heart defects, variable cognitive deficits, skeletal defects, and short stature. ...
Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital heart defects, variable cognitive def …
Genetic conditions of short stature: A review of three classic examples.
Butler MG, Miller BS, Romano A, Ross J, Abuzzahab MJ, Backeljauw P, Bamba V, Bhangoo A, Mauras N, Geffner M. Butler MG, et al. Front Endocrinol (Lausanne). 2022 Oct 21;13:1011960. doi: 10.3389/fendo.2022.1011960. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36339399 Free PMC article. Review.
Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. ...The aim of this review is to summarize the clinical features and genetics associated with each syndrome, describe best practices for diagnosis and treatme …
Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. ...The aim of this revie …
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 …
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
Karbach J, Coerdt W, Wagner W, Bartsch O. Karbach J, et al. Am J Med Genet A. 2012 Sep;158A(9):2283-9. doi: 10.1002/ajmg.a.35493. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22848035 Review.
Noonan syndrome with multiple giant cell lesions (NS/MGCL) was recently shown to be a phenotypic variation within the syndromes of the Ras/MAPK pathway and not an independent entity as previously thought. Here we report on a 13-year-old boy with a typical phe …
Noonan syndrome with multiple giant cell lesions (NS/MGCL) was recently shown to be a phenotypic variation within the syndrome …
Thirty-year outcome in children with hypertrophic cardiomyopathy based on the type.
Tsuda E, Ito Y, Kato Y, Sakaguchi H, Ohuchi H, Kurosaki K. Tsuda E, et al. J Cardiol. 2022 Dec;80(6):557-562. doi: 10.1016/j.jjcc.2022.07.016. Epub 2022 Aug 10. J Cardiol. 2022. PMID: 35961804 Free article. Review.
RESULTS: The age at the time of the diagnosis ranged from 0 to 15 years with a median of 8 years. The number of patients with Noonan syndrome and hypertrophic obstructive cardiomyopathy (HOCM), idiopathic HCM (i-HCM), and secondary HCM (s-HCM) was 13, 13 …
RESULTS: The age at the time of the diagnosis ranged from 0 to 15 years with a median of 8 years. The number of patients with Noonan …
Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.
Padidela R, Camacho-Hübner C, Attie KM, Savage MO. Padidela R, et al. Horm Res. 2008;70(3):129-36. doi: 10.1159/000145016. Epub 2008 Jul 29. Horm Res. 2008. PMID: 18663312 Free article. Review.
Noonan syndrome (NS) is a phenotypically heterogeneous syndrome which is frequently associated with short stature. ...GH therapy, using doses similar to those approved for Turner syndrome (TS), induced short-term increases in height velocity over 1-3 y …
Noonan syndrome (NS) is a phenotypically heterogeneous syndrome which is frequently associated with short stature. ...G …
Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders.
Ryu HH, Lee YS. Ryu HH, et al. Neurobiol Learn Mem. 2016 Nov;135:13-21. doi: 10.1016/j.nlm.2016.06.006. Epub 2016 Jun 11. Neurobiol Learn Mem. 2016. PMID: 27296701 Review.
Mutations of molecules in the RAS-MAPK pathway are associated with a group of disorders called RASopathies, which include Noonan syndrome, neurofibromatosis type 1, Costello syndrome, Noonan syndrome with multiple lentigines, Legius syndrome …
Mutations of molecules in the RAS-MAPK pathway are associated with a group of disorders called RASopathies, which include Noonan s …
Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.
Schütte P, Möricke A, Zimmermann M, Bleckmann K, Reismüller B, Attarbaschi A, Mann G, Bodmer N, Niggli F, Schrappe M, Stanulla M, Kratz CP. Schütte P, et al. Eur J Med Genet. 2016 Mar;59(3):143-51. doi: 10.1016/j.ejmg.2015.12.008. Epub 2015 Dec 28. Eur J Med Genet. 2016. PMID: 26732628 Review.
The following conditions were reported in more than one patient: Gilbert's disease (n = 13), neurofibromatosis type I (n = 8), ataxia telangiectasia (n = 8), thalassemia (n = 7), Nijmegen Breakage syndrome (n = 6), cystic fibrosis (n = 4), glucose-6-phosphate dehydr …
The following conditions were reported in more than one patient: Gilbert's disease (n = 13), neurofibromatosis type I (n = 8), ataxia …
23 results