Results 61 to 70 of about 9,297 (176)

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, Waqar Sumaita, Noor Ul Ain Jamal, Asra Saleem   +3 more
doaj   +1 more source

Dental considerations and management in Noonan Syndrome: A case report with review of literature

Contemporary Pediatric Dentistry, 2021
Noonan syndrome is a genetic disorder of autosomal dominance with an estimated prevalence of 1:1000 – 1:2500 live birth. The typical features include short stature, cardiovascular abnormalities and characteristics facial deformity.
Nipun Jain, Priyanka Venugopal, Arun Mamachan Xavier, Parvathy Kumaran, Balagopal R Varma, Suresh Kumar J   +5 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Long‐term changes in functional diversity and its implications for mammalian conservation and ecological restoration in a grassland ecosystem

Functional Ecology, Volume 40, Issue 8, Page 2379-2391, August 2026.
Read the free Plain Language Summary for this article on the Journal blog. Abstract Paleontological data provide information on natural environments prior to human influence, which are useful for tracking changes in ecosystem functioning through time. During the Late Pleistocene, about 10% of terrestrial mammalian species were extinct in South America.
Thayara S. Carrasco, Catalina Pimiento, Tiago B. Quental, Pedro L. Godoy   +3 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

OSTEOPOROZ VE SOL KALP TUTULUMU OLAN NOONAN SENDROMU OLGUSU

Cerrahpaşa Medical Journal, 2014
Background and Design.- Noonan syndrome one of the non-chromosomal syndromes is characterized by short stature webbed neck, dysmorphic faces, cardiac anomalies, the skeletal and lymphatic system abnormalities and mild degrees of mental retardation.
Ferunda DEMİR, Selim KURTOĞLU, M. Emre ATABEK, Mehmet KESKİN, Nazmi NARİN   +4 more
doaj  

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

Children
RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis.
Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De Brasi   +9 more
doaj   +1 more source

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

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, Maria Cristina Digilio, Bruno Marino, Marco Tartaglia   +3 more
doaj   +1 more source

When RASopathies Collide: A Case Highlighting the Continuum between Noonan and LEOPARD Syndromes

International Journal of Medical Students
LEOPARD syndrome and Noonan syndrome are clinically overlapping RASopathies, both frequently associated with pathogenic variants in the PTPN11 gene, which encodes the SHP-2 tyrosine phosphatase.
Umesh G, Sofia Mondal, Shaun Nevil, S Anton Charles, Mansi Kumarswamy   +4 more
doaj   +1 more source