Results 121 to 130 of about 79,987 (264)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Severe pulmonary hypertension in weaning from cardiopulmonary bypass following double Ozaki procedure: a case report

JA Clinical Reports
Background Ozaki surgery, which reconstructs cardiac valves using autologous pericardium, is commonly performed for aortic valve replacement and offers benefits such as avoiding anticoagulation and reducing valve degeneration. However, its application to
Jin Sato, Hideki Hino, Ryota Watanabe, Takashi Mori   +3 more
doaj   +1 more source

Left Pulmonary Artery Aneurysm: A Post-stenotic Pulmonary Aneurysm Related to Pulmonary Valve Stenosis. [PDF]

Cureus, 2023
Bhattad PB, Yukselen Z, Bhasin M, Roumia M.   +3 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Abnormalities of External Jugular Veins in Bulldogs with Pulmonary Valve Stenosis. [PDF]

Vet Sci, 2022
Croce M, Vezzosi T, Marchesotti F, Patata V, Bini M, Lacava G, Venco L, Domenech O.   +7 more
europepmc   +1 more source

How to facilitate ultrasound examination of the fetal heart: the 5‐4‐3‐2‐1 method

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT We propose a new standardized, systematic method of fetal cardiac screening, the step‐by‐step ‘5‐4‐3‐2‐1’ method. This method is based on understanding the cardiac structures through a process of navigating between the different recommended views during an abdominothoracic sweep, following a user‐friendly checklist to identify the main ...
M. Levy, B. Stos
wiley   +1 more source

Pulmonary valve stenosis in a recipient twin in twin-to-twin transfusion syndrome with successful balloon valvuloplasty after birth: a case report. [PDF]

BMC Pediatr, 2023
Golbabaei A, Jafari F, Hessami K, Saleh M, Abdolmaleki AS, Naemi M, Rastgar A.   +6 more
europepmc   +1 more source

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Fenech, Albert, Formosa Gouder, Mireille, Grech, Victor E., Magic, Jadran, Manche, Alexander   +6 more
core  

Atrial cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala, Monika Przewłocka‐Kosmala   +1 more
wiley   +1 more source