Publications by authors named "Elias O Silva"
van den Ende-Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands and feet. Growth and development are normal. To date only 11 patients, from 8 families, have been described.
View Article and Find Full Text PDFAutosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial expression of the genes during prenatal neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain.
View Article and Find Full Text PDFArticle Synopsis
- Ellis-van Creveld syndrome (EvC) is a genetic condition that affects bone development and is inherited in an autosomal recessive manner.
- Previous studies identified mutations in the EVC gene as a cause of EvC, but new findings reveal that mutations in a second gene, EVC2, can also lead to this syndrome.
- Both EVC and EVC2 are located next to each other and share a conserved configuration across different species, and individuals with mutations in either gene exhibit similar physical features associated with EvC.