Publications by authors named "R Dard"

Inhibitory interneurons are pivotal components of cortical circuits. Beyond providing inhibition, they have been proposed to coordinate the firing of excitatory neurons within cell assemblies. While the roles of specific interneuron subtypes have been extensively studied, their influence on pyramidal cell synchrony in vivo remains elusive.

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Article Synopsis
  • Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
  • A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
  • Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
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Article Synopsis
  • Transient Bartter syndrome caused by MAGED2 variants is the newest type of antenatal Bartter syndrome and presents as the most severe form during the perinatal period; this study examines 14 new cases and the incomplete penetrance specifically in women.
  • The research involved 54 symptomatic patients, revealing a mix of outcomes: 27% resolved symptoms, 41% had ongoing complications, and 32% faced fatality, with common clinical anomalies including renal and cardiovascular issues.
  • The findings enhance the understanding of MAGED2’s phenotype and genetics, while also highlighting varying patient outcomes, which informs genetic counseling for affected families.
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Background: Exome sequencing in prenatal context confronts with pathogenic variants associated with phenotypes that are not detectable prenatally.

Materials And Methods: A consanguineous couple was referred at 24 weeks of gestation for prenatal genetic investigations after ultrasonography findings including decreased fetal movements, hypoplastic male external genitalia, retrognathia, prefrontal edema, anomalies of the great vessels with pulmonary atresia and dilated tortuous aorta.

Result: Prenatal trio exome sequencing identified two homozygous likely pathogenic variants, i.

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Down syndrome (DS) is a genetic disease characterized by a supernumerary chromosome 21. Intellectual deficiency (ID) is one of the most prominent features of DS. Central nervous system defects lead to learning disabilities, motor and language delays, and memory impairments.

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