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
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.
Jérôme Bonnefont,Sergey Nikolaev,Anselme L. Perrier,Song Guo,Laetitia Cartier,Silvia Sorce,Térèse Laforge,Laetitia Aubry,Philipp Khaitovich,Marc Peschanski,Stylianos E. Antonarakis,Karl-Heinz Krause +11 more
TL;DR: It is proposed that the recent emergence and multiplication of the RFPL1,2,3 genes contribute to changes in primate neocortex size and/or organization.
Book ChapterDOI
Molecular etiology of factor VIII deficiency in hemophilia A
Stylianos E. Antonarakis,Stylianos E. Antonarakis,Haig H. Kazazian,Jane Gitschier,Pierre Hutter,Philippe de Moerloose,Michael A. Morris +6 more
TL;DR: Hemophilia A is a classic example of X-linked recessive inheritance and occurs almost exclusively in males who have only one X chromosome; females with one abnormal F.VIII gene are asymptomatic carriers because the other X chromosome contains a normal gene.
Journal ArticleDOI
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the olig1 and olig2 locus
Marc Friedli,Isabelle Barde,Mélanie Arcangeli,Sonia Verp,Alexandra Quazzola,Jozsef Zakany,Nathalie Lin-Marq,Daniel Robyr,Catia Attanasio,François Spitz,Denis Duboule,Denis Duboule,Didier Trono,Stylianos E. Antonarakis +13 more
TL;DR: This work provides a new approach for the large-scale in vivo screening of transcriptional regulatory sequences, and demonstrates that evolutionary conservation alone seems too limiting a criterion for the identification of enhancers.
Journal ArticleDOI
The role of biobanking in rare diseases: European consensus expert group report
Hanns Lochmüller,Ségolène Aymé,Francesca Pampinella,Béla Melegh,Klaus A. Kuhn,Stylianos E. Antonarakis,Thomas Meitinger +6 more
TL;DR: Recommendations related to rare disease biobanking are given reflecting consensus of an expert working group of the Biobank and Biomolecular Research Infrastructure program at a meeting in Munich on December 17-18, 2008.
Journal Article
c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p.
TL;DR: DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11.