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Page 1
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M. Patti G, et al. Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37576960 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorch …
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including …
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 …
Autism spectrum disorder profiles in RASopathies: A systematic review.
Debbaut E, Steyaert J, El Bakkali M. Debbaut E, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2428. doi: 10.1002/mgg3.2428. Mol Genet Genomic Med. 2024. PMID: 38581124 Free PMC article. Review.
We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers. RESULTS: We included 41 articles on ASD features in NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). .. …
We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers. RESULTS: We included 4 …
The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review.
Giacomozzi C, Deodati A, Shaikh MG, Ahmed SF, Cianfarani S. Giacomozzi C, et al. Horm Res Paediatr. 2015;83(3):167-76. doi: 10.1159/000371635. Epub 2015 Feb 21. Horm Res Paediatr. 2015. PMID: 25721697 Free article. Review.
BACKGROUND: Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial. AIMS: To systematically determine the impact of rhGH therapy on adult height in children …
BACKGROUND: Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome …
Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis.
Pauta M, Martinez-Portilla RJ, Borrell A. Pauta M, et al. Ultrasound Obstet Gynecol. 2022 Jan;59(1):26-32. doi: 10.1002/uog.23746. Ultrasound Obstet Gynecol. 2022. PMID: 34309942 Free article.
The observed inheritance pattern was autosomal dominant in 12 cases, including four fetuses with Noonan syndrome, autosomal recessive in two cases and X-linked in one case. ...
The observed inheritance pattern was autosomal dominant in 12 cases, including four fetuses with Noonan syndrome, autosomal re …
Effect of Growth Hormone Therapy on Pubertal Timing: Systematic Review and Meta-Analysis.
Olwi D, Day F, Ong K. Olwi D, et al. Horm Res Paediatr. 2024;97(1):1-10. doi: 10.1159/000530578. Epub 2023 Apr 19. Horm Res Paediatr. 2024. PMID: 37075730 Free article.
RESULTS: Twenty-five articles (n = 1,433 children) were identified, describing 12 randomized and 13 non-randomized controlled studies in children with idiopathic short stature (ISS; 15 studies), small for gestational age (n = 6 studies), chronic renal failure (n = 3), Noonan …
RESULTS: Twenty-five articles (n = 1,433 children) were identified, describing 12 randomized and 13 non-randomized controlled studies in chi …
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.
Bader-Meunier B, Cavé H, Jeremiah N, Magerus A, Lanzarotti N, Rieux-Laucat F, Cormier-Daire V. Bader-Meunier B, et al. Semin Arthritis Rheum. 2013 Oct;43(2):217-9. doi: 10.1016/j.semarthrit.2013.04.009. Epub 2013 Jun 17. Semin Arthritis Rheum. 2013. PMID: 23786871 Review.
OBJECTIVE: RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS o …
OBJECTIVE: RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from ger …