Results 71 to 80 of about 16,136 (213)
Epilepsia Open, EarlyView.Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker +12 more
wiley +1 more source
BMC Genetics, 2019 Background The ornamental crop Hydrangea macrophylla develops highly attractive lacecap (wild type) or mophead inflorescences. The mophead trait, which is mostly favored by consumers, is recessively inherited by the INFLORESCENCE TYPE locus (INF).
Conny Tränkner +5 more
doaj +1 more source
Journal of Adolescence, EarlyView.ABSTRACT Objective Body dissatisfaction often arises from a discrepancy between perceived and ideal body images, posing a risk for psychological issues like depression and eating pathologies, particularly during adolescence. Puberty's rapid physical changes may exacerbate the feeling of dissatisfaction, additionally pubertal changes also influence ...
Isabella Muscolino +3 more
wiley +1 more source
Rhesus-D zygosity and hemolytic disease of fetus and newborn
Asian Journal of Transfusion Science, 2013 Alloimmunization against the Rhesus-D (RhD) antigen still remains as a major cause of hemolytic disease of fetus and newborn (HDFN). Determination of paternal RhDzygosity is performed by molecular testing and is valuable for the management of ...
Mostafa Moghaddam +3 more
doaj +1 more source
, 2018 Colored bars represent the mean zygosity frequency measured in single cells (847 single-cell measurements total). White bars with black outline represent the predicted mean zygosity frequency we expect our method to report for a sample for which all ...
Jordan L. Smith (610189) +8 more
core +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada +6 more
wiley +1 more source
JCPP Advances, EarlyView.Abstract Background Attention‐deficit/hyperactivity disorder (ADHD) symptoms are associated with adverse health outcomes; this may be partially due to unhealthy lifestyle factors such as low physical activity (PA) and high sedentary behavior (SED). However, this association remains unclear.
Narda Ontiveros +5 more
wiley +1 more source
Rapid method for identification of transgenic fish zygosity [PDF]
, 2007 Identification of zygosity in transgenik fish is normally achieved by PCR analysis with genomic DNA template extracted from the tissue of progenies which are derived by mating the transgenic fish and wild-type counterpart.
Alimuddin
core +2 more sources
JPGN Reports, EarlyView.Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette +21 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino +23 more
wiley +1 more source