Results 221 to 230 of about 251,261 (303)

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

One- and two-year structural changes of mavacamten therapy in hypertrophic obstructive cardiomyopathy: a case report with serial comprehensive CMR demonstrating continuous reverse remodelling. [PDF]

Eur Heart J Case Rep
Seuthe K, Pfister R, Schönherr CH, Kaya K, Pennig L.   +4 more
europepmc   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +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

Heyde syndrome secondary to hypertrophic obstructive cardiomyopathy: a case report. [PDF]

Egypt Heart J
Castellanos-Maldonado A, Canales-Azcona GA, Martínez-Arroyo JL, Maldonado-Valdéz M, Ibarra-Sifuentes HR.   +4 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

The effect of purified hemoglobin spray on the treatment of pediatric patiens with second-degree burns. [PDF]

Front Pediatr
Kulice EC.
europepmc   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Dynamic Strain Imaging in Hypertrophic Cardiomyopathy: Refining Risk Stratification Beyond Conventional Metrics. [PDF]

Rev Cardiovasc Med
Cheng W.
europepmc   +1 more source

Prostate Cancer, Genetic Susceptibility, and Risk of Chronic Non‐Urological Complications

The Prostate, EarlyView.
ABSTRACT Background Chronic nonurological complications are common among prostate cancer (PCa) survivors; however, their spectrum, magnitude, and genetic contribution remain poorly characterized. Methods We evaluated 15 commonly reported nonurological complications and tested their associations with exposure to PCa and disease‐specific polygenic risk ...
Brian T. Helfand, Zhuqing Shi, Ashley J. Mulford, Huy Tran, Jun Wei, Annabelle Ashworth, S. Lilly Zheng, Alan R. Sanders, Nathan Graham, Joshua Cabral, Jim Lu, Jennifer L. Beebe‐Dimmer, Kathleen A. Cooney, David Duggan, Jianfeng Xu   +14 more
wiley   +1 more source