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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Transcriptional Map of the 2.5-Mb CBR–ERG Region of Chromosome 21 Involved in Down Syndrome
Nadia Dahmane,Ghania Ait Ghezala,Philippe Gosset,Zeina Chamoun,Marie-Clotilde Dufresne-Zacharia,Carmela Lopes,Natacha Rabatel,Svetlana Gassanova-Maugenre,Zoubida Chettouh,Vincent Abramowski,Elizabeth Fayet,Marie-Laure Yaspo,Bernhard Korn,Jean-Louis Blouin,Hans Lehrach,Annemarie Poutska,Stylianos E. Antonarakis,Pierre-Marie Sinet,Nicole Créau,Jean-Maurice Delabar +19 more
TL;DR: This work identified 27 genuine or highly probable transcriptional units evenly distributed along the CBR-ERG region, which contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation.
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Molecular mechanism in the formation of a human ring chromosome 21.
Chi-Huey Wong,H H Kazazian,Gail Stetten,William C. Earnshaw,M L Van Keuren,Stylianos E. Antonarakis +5 more
TL;DR: The structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 were characterized and molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21).
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
Mirna Assoum,Christophe Philippe,Bertrand Isidor,Laurence Perrin,Periklis Makrythanasis,Neal Sondheimer,Caroline Paris,Jessica Douglas,Gaetan Lesca,Stylianos E. Antonarakis,Hanan Hamamy,Thibaud Jouan,Yannis Duffourd,Stéphane Auvin,Aline Saunier,Amber Begtrup,Catherine Nowak,Nicolas Chatron,Nicolas Chatron,Dorothée Ville,Kamiar Mireskandari,Paolo Milani,Philippe Jonveaux,Guylène Lemeur,Mathieu Milh,Masano Amamoto,Mitsuhiro Kato,Mitsuko Nakashima,Noriko Miyake,Naomichi Matsumoto,Amira Masri,Christel Thauvin-Robinet,Jean-Baptiste Rivière,Laurence Faivre,Laurence Faivre,Julien Thevenon,Julien Thevenon +36 more
TL;DR: Early-onset epileptic encephalopathy represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age.
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Efficient targeted transcript discovery via array-based normalization of RACE libraries.
Sarah Djebali,Philipp Kapranov,Sylvain Foissac,Julien Lagarde,Alexandre Reymond,Catherine Ucla,Carine Wyss,Jorg Drenkow,Erica Dumais,Ryan R. Murray,Chenwei Lin,David Szeto,Miquel Calvo,Adam Frankish,Jennifer Harrow,Periklis Makrythanasis,Marc Vidal,Kourosh Salehi-Ashtiani,Stylianos E. Antonarakis,Thomas R. Gingeras,Roderic Guigó +20 more
TL;DR: This work hybridized the products of the RACE reaction onto tiling arrays and used the detected exons to delineate a series of reverse-transcriptase (RT)-PCRs, through which the original RACE transcript population was segregated into simpler transcript populations.
Journal ArticleDOI
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.
M. Reza Sailani,Federico Santoni,Audrey Letourneau,Christelle Borel,Periklis Makrythanasis,Youssef Hibaoui,Konstantin Popadin,Ximena Bonilla,Michel Guipponi,Corinne Gehrig,Anne Vannier,Frederique Carre-Pigeon,Anis Feki,Dean Nizetic,Stylianos E. Antonarakis +14 more
TL;DR: The results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes.