Results 121 to 130 of about 48,714 (242)

Implantable Cardioverter‐Defibrillators in Children: A 14‐Year Population‐Based Study

open access: yesJournal of Arrhythmia, Volume 42, Issue 2, April 2026.
Nationwide pediatric ICD cohort from Slovakia illustrating incidence, indications, shock outcomes, and device‐related adverse events, highlighting the predominance of secondary prevention and the clinical burden of inappropriate shocks and major complications.
Marko Bjeloševič   +4 more
wiley   +1 more source

Ischemic Ventricular Septal Defect Presenting With Progressive Exertional Dyspnea. [PDF]

open access: yesJACC Case Rep
Hargovan S   +5 more
europepmc   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

open access: yesClinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil   +9 more
wiley   +1 more source

Percutaneous Closure of a Large, Complex Postinfarct Ventricular Septal Defect. [PDF]

open access: yesJACC Case Rep
Saad M   +4 more
europepmc   +1 more source

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

open access: yesAmerican 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   +9 more
wiley   +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

open access: yesBirth 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   +3 more
wiley   +1 more source

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