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.
Papers
More filters
Journal ArticleDOI
A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing
George F. Atweh,Clara Wong,R Reed,Stylianos E. Antonarakis,D E Zhu,PK Ghosh,T Maniatis,Bernard G. Forget,Haig H. Kazazian +8 more
TL;DR: A G to T transversion at the fifth nucleotide of the first intervening sequence (IVS-1) of the beta-globin gene has been identified in cloned beta-thalassemia genes of two unrelated individuals, one of Mediterranean and the other of Anglo Saxon ancestry.
Journal ArticleDOI
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM.
Melvin G. McInnis,Aravinda Chakravarti,Jillian Blaschak,Michael B. Petersen,Vikram Sharma,Dimitrios Avramopoulos,Jean-Louis Blouin,Ulrich König,Christina Brahe,Tara C. Matise,Andrew C. Warren,C. Conover Talbot,Christine Van Broeckhoven,Michael Litt,Stylianos E. Antonarakis +14 more
TL;DR: This map of HC 21 represents a highly informative and dense meiotic linkage map and will be useful in linking disease phenotypes to loci on this chromosome.
Journal ArticleDOI
Parental Origin of the Deletion 22q11.2 and Brain Development in Velocardiofacial Syndrome: A Preliminary Study
TL;DR: Children and adolescents with velocardiofacial syndrome experience major alterations in brain volumes, and significant reduction in gray matter development is attributable to presence of 22q11.2 microdeletion on the maternal chromosome.
Journal ArticleDOI
The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia
Eric R. Fearon,HH Jr Kazazian,P G Waber,Ji Lee,Stylianos E. Antonarakis,Stuart H. Orkin,Elio F. Vanin,Paula S. Henthorn,Frank Grosveld,Alan F. Scott,George R. Buchanan +10 more
TL;DR: This gamma delta beta-thalassemia deletion eliminates over 105 kb of DNA and is the first report of a deletion of the entire beta-globin gene cluster.
Journal ArticleDOI
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.
Karen Bedard,Homa Attar,Jérôme Bonnefont,Vincent Jaquet,Christelle Borel,Olivier Plastre,Marie-José Stasia,Stylianos E. Antonarakis,Karl-Heinz Krause +8 more
TL;DR: The results help to unravel the complex nature of how genetic variations in CYBA influence NOX2 activity, and indicate that haplotypes, rather than individual SNPs, define the effect on ROS generation.