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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Book ChapterDOI
Genomic determinants in the phenotypic variability of Down syndrome.
TL;DR: The significant advances in exploring the human genome now provide the tools to better understand the contribution of trisomy 21 in the different manifestations of Down syndrome, and the functional links between the genome variability and the phenotypic variability.
Journal ArticleDOI
Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7)
J. H. Ives,Franca Dagna-Bricarelli,Giuseppe Basso,Stylianos E. Antonarakis,R. Jee,F. Cotter,Dean Nizetic +6 more
TL;DR: In the limited number of cases analysed so far, it is found TIAM1 mRNA levels in the DS AML‐M7 samples of bone marrow taken in the acute phase of the disease to be highly significantly raised, nearly threefold, compared to that measured in the remission samples or normal individuals.
Journal ArticleDOI
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2.
TL;DR: The human ATP5O subunit is a key structural component of the stalk of the mitochondrial respiratory chain F1F0-ATP synthase and as such may contribute in a gene dosage-dependent manner to the phenotype of Down syndrome.
Journal ArticleDOI
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes.
Sheng Yue Wang,Marc Cruts,Jurgen Del-Favero,Yi Zhang,Fadel Tissir,Marie-Claude Potier,David Patterson,Dean Nizetic,Assumpció Bosch,Haiming Chen,Lynda Bennett,Xavier Estivill,Anna M. Kessling,Stylianos E. Antonarakis,Christine Van Broeckhoven +14 more
TL;DR: This physical map of chromosome 21p is constructed using sequence tagged site (STS) content mapping of yeast artificial chromosomes (YACs) and constitutes a basic framework for further structural and functional studies of chromosomes 21p.