Results 71 to 80 of about 2,361 (178)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1442-1451, June 2026.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

Pediatric Rheumatology Online Journal
Background Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants ...
Patricia Morán-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti, Claudia Bracaglia   +5 more
doaj   +1 more source

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

BMC Pediatrics, 2019
Background Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes. Case presentation We present a
Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho   +2 more
doaj   +1 more source

Treatment of RAF1-Related Obstructive Hypertrophic Cardiomyopathy by MEK Inhibition Using Trametinib

JACC: Case Reports
RASopathies cause nonsarcomeric hypertrophic cardiomyopathy via dysregulated signaling through RAS and upregulated mitogen-activated protein kinase activity.
Omid Kiamanesh, MD, Steven C. Greenway, MD, Franciscus Dicke, MD, MBA, Brennan Ballantyne, MD, Sasha Mitrovic, RDCS, Kaitlin McGrath, MD, James A. White, MD, William D.T. Kent, MD, Gregor Andelfinger, MD   +8 more
doaj   +1 more source

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

Scientific Reports, 2017
RASopathies, characterized by germline mutations in genes encoding proteins of the RAS-ERK signaling pathway, show overlapping phenotypes, which manifest themselves with a varying severity of intellectual disability. However, it is unclear to what extent
Jadwiga Schreiber, Laura-Anne Grimbergen, Iris Overwater, Thijs van der Vaart, Jeffrey Stedehouder, Alberto J. Schuhmacher, Carmen Guerra, Steven A. Kushner, Dick Jaarsma, Ype Elgersma   +9 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

A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation

Journal of Behçet Uz Children's Hospital
Cystic hygroma (CH) is a lymphatic malformation commonly associated with various genetic disorders, including RASopathies-syndromes caused by mutations in the RAS-MAPK signaling pathway.
Suzan Süncak, Filiz Hazan, Coşkun Armağan, Ceren Yılmaz Uzman, Semra Gürsoy, Özlem Giray Bozkaya   +5 more
doaj   +1 more source

RASopathy and Sudden Cardiac Death: A Literature Review

BioChem
RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in genes encoding proteins of the RAS/MAPK pathway, which are essential in the regulation of cell proliferation, differentiation and survival.
Cecilia Salzillo, Andrea Marzullo
doaj   +1 more source

Pulmonary Hypertension in the RASopathies

jcvm, 2019
The RASopathies are a class of developmental disorders caused by a genetic mutation in the Ras signaling pathway and asso ciated mitogen-activated protein kinases that control the cell cycle, differentiation and senescence. These diseases encompass a diverse set of clinical syndromes including neurofibromatosis type 1 and Noonan syndrome.
openaire   +1 more source