Results 251 to 260 of about 133,355 (312)

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

Trans-catheter versus open surgical aortic valve replacement in severe symptomatic aortic stenosis. [PDF]

J Cardiothorac Surg
Eltaweel MF, Elsokkary IN, Badawi MW, Mohamed Adas AY, Alherazi A, Yossif MAW, Ibrahim GK, Ramadan A, Albatrek H, Khalil IM.   +9 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Pre‐ and Post‐Interventional Hemodynamic Characterization of the Femoropopliteal Artery Using Vector Flow Imaging in Peripheral Arterial Occlusive Disease

Journal of Ultrasound in Medicine, Volume 45, Issue 7, Page 1397-1407, July 2026.
Objectives The femoropopliteal (FP) artery is the most frequently revascularized segment in peripheral artery disease (PAD), followed by the iliac segment. Wall shear stress (WSS) is a key local factor implicated in both atherosclerotic plaque formation and restenosis after angioplasty.
Jan Lukas Prüser, Gisela Winkelbauer, Wulf Dieker, Abdulkader Adler, Klaus Amendt, Martin Sigl   +5 more
wiley   +1 more source

Initial Experience With Transcatheter Aortic Valve Replacement in Patients With Severe Aortic Stenosis in Nicaragua. [PDF]

Cureus
Leytón I, Campos J, Gutierrez E, López I, Mendoza JC.   +4 more
europepmc   +1 more source

Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances

Mass Spectrometry Reviews, Volume 45, Issue 4, Page 599-623, July/August 2026.
Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley   +1 more source

Risk-score performance for detecting transthyretin cardiac amyloidosis in severe aortic stenosis: a prospective cohort study. [PDF]

Front Cardiovasc Med
Katarzyna G, Ewa D, Mateusz W, Agnieszka S, Natalia P, Katarzyna H, Sylwia WŚ, Wojciech S, Magdalena K, Paweł R.   +9 more
europepmc   +1 more source

Feasibility of detecting aortic stenosis with mobile phone auscultation data: a pilot study. [PDF]

Front Cardiovasc Med
Close RM, Judson GL, Zhang J, Kowalski K, Martinez D, Diaz M, Huecker M.   +6 more
europepmc   +1 more source

Cardiac stalling: Modelling energy balance in aortic stenosis and its role in syncope

The Journal of Physiology, EarlyView.
DeWayne Townsend
wiley   +1 more source