Results 231 to 240 of about 64,129 (312)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Surgical management of a patient with mirror-image dextrocardia with situs inversus, atrial septal defect, moderate tricuspid regurgitation, and moderate to severe pulmonary hypertension: a case report. [PDF]

J Cardiothorac Surg
Chen P, Gong Q, Lu B, Zheng G, Ke X, Chen C.   +5 more
europepmc   +1 more source

The second heart sound in ventricular septal defect.

The Turkish journal of pediatrics, 1972
openaire   +2 more sources

Sex differences in neuromodulatory subcortical systems and their implications for Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 3, March 2026.
Abstract Neuromodulatory subcortical systems (NSSs) are uniquely susceptible to dementia‐related pathology, leading to frequent molecular and behavioral impairments associated with altered function of these nuclei. Some of these systems display clear sex‐specific cytoarchitecture and signaling leading to distinct physiology and behavioral outputs in ...
Rosaria J. Rae, Jessica Marie Hunter Alberhasky, Marion Baillet, Debra A. Bangasser, Michael E. Belloy, Anne S. Berry, Chiara Berteotti, Hannah Bow, Rachel Buckley, Jessica Z. K. Caldwell, Matteo Carpi, Benjamin J. Clark, Claire J. Ciampa, Alexander C. Conley, Martin J. Dahl, Zoe R. Donaldson, Alexander J. Ehrenberg, Gillian Einstein, Neus Falgàs, Haley A. Fenlon, Megan C. Fitzhugh, Robert C. Froemke, Clara Gallay, Lea Tenenholz Grinberg, Derek A. Hamilton, Zia Hasan, Oihane Uriarte Huarte, Shaista Jabeen, Heidi I. L. Jacobs, Louis John Kolling, Elouise A. Koops, Sabrina Lenzoni, Claudio Liguori, Riccardo Manca, Catherine A. Marcinkiewcz, Tamunotonye Omoluabi, Rademene Oria, Caitlin A. Orsini, Nancy Elizabeth Ortega, Judy Pa, Nathan S. Pentkowski, Joana B. Pereira, Rhudovic Ramos, Derya Sargin, Abhijit Satpati, Maria Clara Selles, Mabel Seto, Shabana M. Shaik, Shireen Sindi, Gowoon Son, Valentine Ucheagwu, Maxime Van Egroo, Qi Yuan, Michael A. Kelberman   +53 more
wiley   +1 more source

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies. [PDF]

Front Genet
Wu Y, Chen G, Yang F, Liu X, Qiang Y, Wu R, Liu F, Cheng W, Yuan J.   +8 more
europepmc   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights. [PDF]

Mol Cytogenet
Khelifi R, Othmane H, Ajmi H, Slimani W, Bennour A, Dardour L, Soyeh N, Benzarti A, Rjiba K, Abdallah HH, Rassass A, Kooli R, Mghirbi O, Kammoun M, Khelifa HB, Bahri F, Hayet M, Ammar A, Ghanmi S, Mathlouthi J, Ben Hamida H, Habboul Z, Kemis T, Kharrat H, Hassine N, Tej A, Bellalah M, Chouikh F, Houssine M, Mahdhaoui A, Kortas C, Guith A, Maatouk F, Naffeti E, Soua H, Gribaa M, Saad A, Mougou-Zerelli S.   +37 more
europepmc   +1 more source

Atrial septal defect - right heart view (illustration)

, 2015
openaire   +1 more source

Endovascular Stenting for Pulmonary Vein Stenosis Following Atrial Fibrillation Ablation: From Diagnosis to Intervention

Catheterization and Cardiovascular Interventions, Volume 107, Issue 4, Page 925-933, March 1, 2026.
ABSTRACT Background Pulmonary vein stenosis (PVS) is an uncommon but serious complication of atrial fibrillation (AF) ablation, often misinterpreted as primary pulmonary disease. Timely identification is essential to prevent irreversible injury and to guide appropriate referral for interventional management. Case Presentations Through the discussion of
Cristina Aurigemma, Marco Busco, Francesco Bianchini, Gabriella Locorotondo, Francesca Graziani, Annalisa Pasquini, Enrico Romagnoli, Mattia Lunardi, Lazzaro Paraggio, Francesco Varone, Andrea Smargiassi, Bruno Iovene, Riccardo Marano, Carlo Trani, Francesco Burzotta   +14 more
wiley   +1 more source