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Human Genetics of Ebstein Anomaly
Ebstein anomaly (EA) is a rare, congenital cardiac defect of the tricuspid valve with a birth prevalence between 0.5 and 1 in 20,000 [1]. It is...
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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
BackgroundWhole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to...
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Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan
Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large...
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Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
Loss-of-function variants in CCM1/KRIT1 , CCM2/MGC4607 , and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple...
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Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
BackgroundBirth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have...
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Analysis of Structural, Photoluminescence, and Colorimetric Performance of Gd-Incorporated BNT Ceramic
Structural, optical, photoluminescence and colorimetric analyses of Gd (1–5 mol %) doped BNT ceramics synthesized by the solid-state reaction...
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Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
Background16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity,...
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Temporal Phase Synchrony Disruption in Dyslexia: Anomaly Patterns in Auditory Processing
The search for a dyslexia diagnosis based on exclusively objective methods is currently a challenging task. Usually, this disorder is analyzed by...
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Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses
BackgroundExome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into...
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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams–Oliver syndrome (AOS). The clinical...
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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report
BackgroundA plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in...
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The central executive network and executive function in healthy and persons with schizophrenia groups: a meta-analysis of structural and functional MRI
This meta-analysis evaluated the extent to which executive function can be understood with structural and functional magnetic resonance imaging....
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Whole exome sequencing of fetal structural anomalies detected by ultrasonography
The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal...
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Structural connectivity in ventral language pathways characterizes non-verbal autism
Language capacities in autism spectrum disorders (ASD) range from normal scores on standardized language tests to absence of functional language in a...
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray...
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency
ObjectiveTo evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm).
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Numerical and Structural Chromosomal Abnormalities Associated with Immunodeficiency
AbstractRecurrent infections in children with chromosome anomalies are associated with some anatomical specificities in their upper respiratory tract...
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Progressive hemiparesis due to spino-laminar anomaly of the axis—a case report and literature review
IntroductionSome of the most common developmental malformations of the axis include anomalies of the odontoid, for example, hypoplasia or aplasia....
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Structural analysis and prediction of potent bioactive molecule for eNOS protein through molecular docking
Reactive oxygen species by uncoupled eNOS is linked to endothelial dysfunction. Ellagic acid (EA), a polyphenol possesses numerous biological...
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Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y
BackgroundThe mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of...
