Results 41 to 50 of about 3,804 (178)
Cells, 2020 P0-related protein (PZR), a Noonan and LEOPARD syndrome target, is a member of the transmembrane Immunoglobulin superfamily. Its cytoplasmic tail contains two immune-receptor tyrosine-based inhibitory motifs (ITIMs), implicated in adhesion-dependent ...
Maria G. Roubelakis +5 more
doaj +1 more source
The case of 17-year-old male with LEOPARD syndrome. [PDF]
J Cardiol Cases, 2013 LEOPARD syndrome is a phenotypic expression of mutations in several genes: PTPN11, RAF1, and BRAF. All these genes are responsible for Ras/MARK signaling pathway, which are important for cell cycle regulation, differentiation, growth, and aging ...
Dzemeshkevich S +4 more
europepmc +2 more sources
Ecology and Evolution, Volume 16, Issue 6, June 2026.We present a flexible workflow to determine optimal sample sizes in animal tracking studies, balancing sampling duration, interval, and number of tagged individuals. Integrated into an R package and Shiny application, it supports rigorous and cost‐effective study design to improve inferences and inform conservation, while considering logistical and ...
Inês Silva +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2023 Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder.
Chon-Hou Chan +7 more
doaj +1 more source
Arquivos Brasileiros de Cardiologia, 2009 Relatamos a rara associação entre síndrome Leopard e miocardiopatia hipertrófica em mulher de 27 anos, pouco sintomática, que veio para estratificação e prevenção de risco de morte súbita.
Murillo de Oliveira Antunes +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Noonan Syndrome: A Case Report
Annals of Health Research, 2018 The clinical findings and treatment options of cardiovascular abnormalities in a 20-year old male patient with Noonan syndrome are described with literature review.
Khan Fahad +3 more
doaj +1 more source
Annals of Gastroenterological Surgery, Volume 10, Issue 2, Page 325-335, March 2026.ABSTRACT The therapeutic landscape of hepatocellular carcinoma (HCC) has been transformed by recent advancements in systemic therapies, particularly with the introduction of immune checkpoint inhibitors, expanding treatment options beyond conventional locoregional approaches.
Keiichi Akahoshi +4 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2019 The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery.
Giulio Calcagni +3 more
doaj +1 more source