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
Nonrandom association of polymorphic restriction sites in the β-globin gene cluster
TL;DR: A nonrandom association of DNA sequences over 32 kb 5' to the delta-globin gene in all populations studied is suggested, which limits the usefulness of these additional HincII sites for prenatal diagnosis of hemoglobinopathies by linkage analysis.
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
Lucia Bartoloni,Jean-Louis Blouin,Yanzhen Pan,Corinne Gehrig,Amit K. Maiti,Nathalie Scamuffa,Colette Rossier,Mark Jorissen,Miguel Armengot,M Meeks,Hannah M. Mitchison,Eddie M. K. Chung,C. D. DeLozier-Blanchet,William J. Craigen,Stylianos E. Antonarakis +14 more
TL;DR: It is concluded that mutations in the coding region of DNAH11 account for situs inversus totalis and probably a minority of cases of PCD.
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Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
Stylianos E. Antonarakis,J. P. Rossiter,M. Young,J. Horst,P. De Moerloose,S. S. Sommer,Rhett P. Ketterling,H. H. Kazazian,Claude Negrier,Christine Vinciguerra,Jane Gitschier,Michel Goossens,E. Girodon,N. Ghanem,F. Plassa,Jean-Maurice Lavergne,M. Vidaud,J. M. Costa,Y. Laurian,S. W. Lin,S. R. Lin,M. C. Shen,David Lillicrap,Sherryl A. M. Taylor,S. Windsor,Sophie Valleix,K. Nafa,Y. Sultan,Marc Delpech,Cindy L. Vnencak-Jones,John A. Phillips,Rolf Ljung,E. Koumbarelis,A. Gialeraki,T. Mandalaki,P. V. Jenkins,Peter William Collins,K. J. Pasi,Anne Goodeve,Ian R. Peake,F. E. Preston,Marianne Schwartz,Elma Scheibel,Jørgen Ingerslev,David Neil Cooper,David Stuart Millar,V. V. Kakkar,F. Giannelli,J.A. Naylor,E. F. Tizzano,M. Baiget,M. Domenech,Carmen Altisent,J. Tusell,M. Beneyto,J. I. Lorenzo,Christine Gaucher,Claudine Mazurier,Kathelijne Peerlinck,Gert Matthijs,Jj. Cassiman,Jozef Vermylen,P. G. Mori,M. Acquila,D. Caprino,Hiroshi Inaba +65 more
TL;DR: The presence of factor VII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors than patients without inversions.
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Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain
Sergey Nikolaev,Sandra M. Vetiska,Ximena Bonilla,Emilie Boudreau,Emilie Boudreau,Suvi Jauhiainen,Behnam Rezai Jahromi,Nadiya Khyzha,Nadiya Khyzha,Peter V. DiStefano,Peter V. DiStefano,Santeri Suutarinen,Tim-Rasmus Kiehl,Vitor Mendes Pereira,Alexander M. Herman,Timo Krings,Timo Krings,Hugo Andrade-Barazarte,Takyee Tung,Taufik A. Valiante,Gelareh Zadeh,Mike Tymianski,Tuomas Rauramaa,Seppo Ylä-Herttuala,Joshua D. Wythe,Stylianos E. Antonarakis,Juhana Frösen,Jason E. Fish,Ivan Radovanovic +28 more
TL;DR: It is proposed that these malformations develop as a result of KRAS‐induced activation of the MAPK–ERK signaling pathway in brain endothelial cells and are reversed by inhibition of MAPK (mitogen‐activated protein kinase)– ERK signaling.
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COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome.
Doron Gothelf,Doron Gothelf,Stephan Eliez,Tracy Thompson,Christine Hinard,Lauren Penniman,Carl Feinstein,Hower Kwon,Shuting Jin,Booil Jo,Stylianos E. Antonarakis,Michael A. Morris,Allan L. Reiss +12 more
TL;DR: This longitudinal study of adolescents with 22q11.2 deletion syndrome identified the catechol-O-methyltransferase low-activity allele (COMTL) as a risk factor for decline in prefrontal cortical volume and cognition, as well as for the consequent development of psychotic symptoms during adolescence.