Stylianos E. Antonarakis

TL;DR: DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother, and this prediction was confirmed on eye examination at age 5 months.

TL;DR: The results of the multipoint analyses provided further evidence for the order CAT-CAL-PTH-HBBC-(HRAS1-INS); however, the order of the last two tightly linked loci is still not clear.

TL;DR: In this article, the authors describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations, including developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy.

TL;DR: A meeting entitled ’Expert workshop on the biology of chromosome 21: towards gene-phenotype correlations in Down syndrome’ was held June 11–14, 2004, in Washington D.C. to bring established chromosome 21 investigators together with researchers who work on chromosome 21 genes or relevant pathways but who currently are not involved directly in DS research.

TL;DR: BLAST search of databases revealed that the trapped sequence hmc02a08 (one of 559 different trapped exons) was identical to a region of GenBank entry U61166 for an SH3 (Src-homology) domain-containing gene SH3D1A (formerly called SH3P17; Sparks et al., 1996).