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Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
De Brouchoven I, Lorand J, Bofferding L, Sorlin A, Van Damme A, Danhaive O. De Brouchoven I, et al. Front Pediatr. 2025 Feb 18;13:1475143. doi: 10.3389/fped.2025.1475143. eCollection 2025. Front Pediatr. 2025. PMID: 40041314 Free PMC article.
INTRODUCTION: Rare pathogenic variants in the PTPN11, KRAS, SOS1 and RAF1 genes are the main molecular causes of Noonan syndrome (NS). Most are dominant gain-of-function variants that cause an overactivation of the RAS/MAPK signaling pathway leading to uncontrolled …
INTRODUCTION: Rare pathogenic variants in the PTPN11, KRAS, SOS1 and RAF1 genes are the main molecular causes of Noonan syndrome …
Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study.
Santoro M, Barisic I, Coi A, Tan J, Garne E, Loane M, Odak L, Abate MV, Ballardini E, Cavero-Carbonell C, Gatt M, Gissler M, Klungsøyr K, Lelong N, Tucker D, Wellesley D, Morris JK. Santoro M, et al. Orphanet J Rare Dis. 2025 Feb 17;20(1):76. doi: 10.1186/s13023-025-03594-7. Orphanet J Rare Dis. 2025. PMID: 39962527 Free PMC article.
BACKGROUND: Noonan Syndrome (NS) is a rare multisystemic disorder with heterogeneous phenotypic manifestations. ...Each registry applied a common data model to standardise data and run common syntax scripts to produce aggregated results which were pooled using ra …
BACKGROUND: Noonan Syndrome (NS) is a rare multisystemic disorder with heterogeneous phenotypic manifestations. ...Each regist …
A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.
Yi Z, Xue J, Song Z, Li F, Yang C, Zhang Y. Yi Z, et al. Int J Dev Neurosci. 2025 Feb;85(1):e10396. doi: 10.1002/jdn.10396. Epub 2024 Dec 9. Int J Dev Neurosci. 2025. PMID: 39653642 Review.
BACKGROUND: According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS or LS complicated with Chiari I malforma …
BACKGROUND: According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (N …
Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone Treatment.
Şıklar Z, Berberoğlu M, Kızılcan Çetin S, Yıldız M, Turan S, Darcan Ş, Çetinkaya S, Hatipoğlu N, Yıldırım R, Demir K, Vermezoğlu Ö, Yavaş Abalı Z, Özalp Kızılay D, Görkem Erdoğan N, Şiraz ÜG, Orbak Z, Özgen İT, Bideci A, Selver Eklioğlu B, Karakılıç Özturan E, Tarçın G, Bereket A, Darendeliler F. Şıklar Z, et al. J Clin Res Pediatr Endocrinol. 2025 Mar 19;17(1):76-86. doi: 10.4274/jcrpe.galenos.2024.2024-7-3. Epub 2024 Oct 8. J Clin Res Pediatr Endocrinol. 2025. PMID: 39377546 Free PMC article.
OBJECTIVE: Proportional short stature is one of the most important features of Noonan syndrome (NS), and adult height often remains below the third percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown th …
OBJECTIVE: Proportional short stature is one of the most important features of Noonan syndrome (NS), and adult height often re …
Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.
Shen JJ, Chen QC, Huang YL, Wu K, Yang LC, Wang SS. Shen JJ, et al. Postgrad Med J. 2024 Dec 23;101(1191):37-44. doi: 10.1093/postmj/qgae095. Postgrad Med J. 2024. PMID: 39075977
BACKGROUND: Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome are common types of genetic syndromes (GSs) characterized by distinct facial features, pulmonary stenosis, and delayed growth. In clinical practice, differentiating the …
BACKGROUND: Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome are common types of genetic syndrom …
Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity.
Khainza RE, Oketcho M, Aliku T, Namuyonga J, Ndagire E, Mwambu T, Muhoozi RM, Obongnyinge B, Tumwebaze H, Mbabazi N, Akech T, Nakato A, Killen A, Ofumbi GO, Lwabi P, Omagino J, Lubega S. Khainza RE, et al. BMC Cardiovasc Disord. 2024 Jun 26;24(1):322. doi: 10.1186/s12872-024-03991-z. BMC Cardiovasc Disord. 2024. PMID: 38918721 Free PMC article.
The median age at the time of operation was 4 years (with an interquartile range of 2.5-8.0 years), ranging from 9 months to 16 years. Genetic syndromes were present in 5/88 (5.7%). These included 2 patients with trisomy 21, 2 with Noonan's, and 1 with …
The median age at the time of operation was 4 years (with an interquartile range of 2.5-8.0 years), ranging from 9 months to 16 years …
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Waikel RL, Othman AA, Patel T, Ledgister Hanchard S, Hu P, Tekendo-Ngongang C, Duong D, Solomon BD. Waikel RL, et al. JAMA Netw Open. 2024 Mar 4;7(3):e242609. doi: 10.1001/jamanetworkopen.2024.2609. JAMA Netw Open. 2024. PMID: 38488790 Free PMC article.
OBJECTIVE: To compare pediatric resident recognition of Kabuki syndrome (KS) and Noonan syndrome (NS) after 1 of 4 educational interventions, including generative artificial intelligence (AI) methods. ...For KS, the sensitivity of text description was 48.5 …
OBJECTIVE: To compare pediatric resident recognition of Kabuki syndrome (KS) and Noonan syndrome (NS) after 1 of 4 educ …
MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.
Chaput D, Andelfinger G. Chaput D, et al. Can J Cardiol. 2024 May;40(5):789-799. doi: 10.1016/j.cjca.2024.02.020. Epub 2024 Mar 1. Can J Cardiol. 2024. PMID: 38432396 Review.
The term "RASopathies" designates a group of developmental syndromes that are caused by activating variants of the rat sarcoma virus protein (RAS)/mitogen-activated protein kinase (MAPK) cascade. The most prevalent clinical diagnosis is Noonan syndrome, and o …
The term "RASopathies" designates a group of developmental syndromes that are caused by activating variants of the rat sarcoma virus protein …
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Wu X, Wu J, Yuan Y, Yang L, Yu L. Wu X, et al. Mol Genet Genomic Med. 2023 Nov;11(11):e2266. doi: 10.1002/mgg3.2266. Epub 2023 Aug 1. Mol Genet Genomic Med. 2023. PMID: 37525886 Free PMC article.
OBJECTIVE: To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment. METHODS: We collected clinical data from 8 children with Noonan syn …
OBJECTIVE: To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effect …
Co-Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management.
Yang T, Fan X, Fan Y, Song W, Liu X, Wang J, Chen X. Yang T, et al. Laryngoscope. 2024 Jan;134(1):400-409. doi: 10.1002/lary.30799. Epub 2023 May 31. Laryngoscope. 2024. PMID: 37254944
METHODS: Clinical data of children who were diagnosed with SNHL and CHD and received CIs at a tertiary hospital from 2016 to 2021 were retrospectively analyzed. ...The most common genetic etiologies of co-occurring SNHL and CHD were CHARGE syndrome (36.3%), Turner …
METHODS: Clinical data of children who were diagnosed with SNHL and CHD and received CIs at a tertiary hospital from 2016 to 2021 wer …
111 results