Orly Reiner

TL;DR: A fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes is identified and localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.

TL;DR: It is shown that Doublecortin is expressed in the brain throughout the period of corticogenesis in migrating and differentiating neurons, and Immunohistochemical studies show its localization in the soma and leading processes of tangentially migrating neuron, and a strong axonal labeling is observed in differentiating neuron.

TL;DR: The cloning of a gene (LIS-1, lissencephaly-1) in 17p13.3 that is deleted in Miller–Dieker patients is reported, identifying LIS-l as the disease gene and the deduced amino-acid sequence shows significant homology to β-subunits of heterotrimeric G proteins, suggesting that it could possibly be involved in a signal transduction pathway crucial for cerebral development.

TL;DR: The sequence of the entire human gene encoding beta-glucocerebrosidase and that of the associated pseudogene is reported to facilitate development of methods for diagnosis of Gaucher disease at the molecular level.

TL;DR: Deletions of the lissencephaly critical region in chromosome 17p13.3, including LIS1, appear to be the most frequent cause of classical lissENCEphaly.