Results 81 to 90 of about 2,246,280 (273)

Genetics and Genetic Testing in Congenital Heart Disease [PDF]

open access: yes, 2015
Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extra-cardiac anomalies has historically been used to identify patients with possible monogenic ...
Cowan, Jason R., Ware, Stephanie M.
core   +1 more source

Structural Variation and 3D Genome‐Driven DNA/RNA Methylation Divergence Contributing to Cotton Fiber Domestication

open access: yesAdvanced Science, EarlyView.
These findings elucidated the crucial role of the “SVs‐3D genome remodeling‐epigenetic modifications‐gene expression” cascade regulatory network in cotton fiber domestication, offering both a theoretical foundation and genetic resources for molecular design breeding in fiber crops.
Lei Shao   +11 more
wiley   +1 more source

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence:two case reports and a review of the literature [PDF]

open access: yes, 2016
Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions.
Bjørsum-Meyer, T.   +3 more
core   +1 more source

The power of many: when genetics met yeasts and high‐throughput

open access: yesBiological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Comparison of morphologic profile of congenital heart defects associated with right isomerism and left isomerism in Western Indian population

open access: yesHeart India, 2020
Context: Heterotaxy syndrome is a disorder that involves abnormal lateralization of the abdominal viscera, thoracic organs, and cardiac atria. The objective was to compare the frequency of morphologic profile of congenital heart defects associated with ...
Bhavik Champaneri   +4 more
doaj   +1 more source

A Novel Patient‐Specific Landmark‐Guided Approach for Intramuscular Botulinum Neurotoxin Injections Into the Rotator Cuff: A Cadaveric Study

open access: yesClinical Anatomy, EarlyView.
ABSTRACT Myofascial pain syndrome (MFPS) causes chronic shoulder pain. Supraspinatus and infraspinatus, rotator cuff muscles innervated by the suprascapular nerve, are commonly affected. Intramuscular botulinum neurotoxin (BoNT) injections near motor points (i.e., visible nerve branch entry sites used as a proxy for motor endplates) are an effective ...
Dave Osinachukwu Duru   +5 more
wiley   +1 more source

Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome

open access: yesJournal of Cardiovascular Development and Disease, 2023
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart disease characterized by hypoplasia of left-sided heart structures. The developmental basis for restriction of defects to the left side of the heart in HLHS remains unexplained.
Hisato Yagi, Cecilia W. Lo
doaj   +1 more source

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach [PDF]

open access: yes, 2015
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1%-5% of all live births. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are identified infrequently.
Bleyl, Steven B.   +8 more
core   +2 more sources

Most costly and prevalent reasons for hospitalization in children with medical complexity in Ontario, Canada

open access: yesJournal of Hospital Medicine, EarlyView.
Abstract Background and Objectives Children with medical complexity (CMC) have chronic health conditions often associated with functional limitations. CMC comprise 1%–5% of the pediatric population. In Canada, their care accounts for one‐third of pediatric health spending.
Erin Hessey   +25 more
wiley   +1 more source

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