Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
m-FISH analysis reveals complexity of chromosome aberrations in individuals occupationally exposed with internal plutonium: A pilot study to assess the relevance of complex aberrations as biomarkers of exposure to high-LET α particles [PDF]
, 2005 We recently demonstrated that a significant proportion of apparently stable insertions induced after exposure to a mean of 1 α particle/cell, detected using 3-colour FISH, were part of larger unstable complexes when visualised by 24-colour FISH ...
Anderson, RM +5 more
core
Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
The Genetic Sex of Two Intersexual Horses and Some Notes on the Karyotype of Normal Horses [PDF]
, 1967 Set Bornstein
openalex +1 more source
Chromosomal microarray versus karyotyping for prenatal diagnosis.
New England Journal of Medicine, 2012 R. Wapner +23 more
semanticscholar +1 more source
Glia, EarlyView.Established a C9ORF72 ALS microglia and motor neuron coculture model. Identified an altered inflammatory signature in C9ORF72 ALS microglia. Single‐cell RNA sequencing detected the removal of an LPS responsive microglia subpopulation. ABSTRACT Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disorder involving multiple cell types in ...
Yujing Gao +9 more
wiley +1 more source
THE KARYOTYPE OF THE MOUSE, WITH IDENTIFICATION OF A TRANSLOCATION [PDF]
, 1965 Dorothea Bennett
openalex +1 more source
New cybrids resulting from asexual pathway: a promise of the cybridization for creating new citrus rootstocks and cultivars [PDF]
, 2015 Cybridization should be a way to induce phenotypical variations in highly heterozygous secondary citrus species or genotypes, without breaking their very complex multilocus structure by sexual recombination.
Barantin, Pascal +3 more
core
Karyotype Analysis in the F<sub>1</sub> Hybrids of Cristate and Normal Forms of <i>Rumex acetosa</i>
, 1937 Y. Sinotô
openalex +2 more sources