S
Stylianos E. Antonarakis
Researcher at University of Geneva
Publications - 758
Citations - 99393
Stylianos E. Antonarakis is an academic researcher from University of Geneva. The author has contributed to research in topics: Gene & Chromosome 21. The author has an hindex of 138, co-authored 746 publications receiving 93605 citations. Previous affiliations of Stylianos E. Antonarakis include Northwestern University & Gujarat University.
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Journal ArticleDOI
Mouse Models for Down Syndrome-Associated Developmental Cognitive Disabilities
Chunhong Liu,Pavel V. Belichenko,Li Zhang,Dawei Fu,Alexander M. Kleschevnikov,Antonio Baldini,Stylianos E. Antonarakis,William C. Mobley,Y. Eugene Yu,Y. Eugene Yu +9 more
TL;DR: Recent progress and future challenges in modeling DS-associated developmental cognitive disability in mice with an emphasis on hippocampus-related phenotypes are discussed.
Journal ArticleDOI
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
TL;DR: It is indicated that single breaks at 11p13 are associated with isolated aniridia, while deletion of 11 p13 results in anIRidia combined with Wilms tumor, genitourinary abnormalities, and/or mental retardation.
Journal ArticleDOI
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2
TL;DR: This study determined the genomic structure of the PSCD2 and PRKCG genes, and performed mutation analysis of all exons and exon-intron junctions of the four genes, in the PJS07 family, and excluded the recently identified STK11-interacting protein gene (STK11IP, alias LIP1) mapped in 2q36 as candidate for PJS in theP JS07 family.
Patent
Method for detecting diseases caused by chromosomal imbalances
TL;DR: In this article, a universal method to detect the presence of chromosomal abnormalities by using paralogous genes as internal controls in an amplification reaction is proposed, which is rapid, high throughput, and amenable to semi-automated analyses.
Journal ArticleDOI
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker.
Michael B. Petersen,Effrosini P. Economou,Susan A. Slaugenhaupt,Aravinda Chakravarti,Stylianos E. Antonarakis +4 more
TL;DR: A (GT)n repeat in intron 4 of the functional human HMG14 gene on chromosome 21 was used as polymorphic marker to map this gene relative to the genetic linkage map of human chromosome 21.