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
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots
Hagop Youssoufian,Haig H. Kazazian,Deborah G. Phillips,Sophia Aronis,George Tsiftis,Valerie A. Brown,Stylianos E. Antonarakis +6 more
TL;DR: Two different point mutations in exon 18 and exon 22 of haemophilia A that have recurred independently in unrelated families are identified, and these observations strongly support the view that CpG dinucleotides are mutation hotspots.
Journal ArticleDOI
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.
TL;DR: This novel class of polymorphisms, termed AluVpA [Alu variable poly(A], may represent one of the most useful and informative group of DNA markers in the human genome.
Journal ArticleDOI
Domains of genome-wide gene expression dysregulation in Down/'s syndrome
Audrey Letourneau,Federico Santoni,Ximena Bonilla,M. Reza Sailani,David Gonzalez,Jop Kind,Claire Chevalier,Robert E. Thurman,Richard Sandstrom,Youssef Hibaoui,Marco Garieri,Konstantin Popadin,Emilie Falconnet,Maryline Gagnebin,Corinne Gehrig,Anne Vannier,Michel Guipponi,Laurent Farinelli,Daniel Robyr,Eugenia Migliavacca,Christelle Borel,Samuel Deutsch,Anis Feki,John A. Stamatoyannopoulos,Yann Herault,Bas van Steensel,Roderic Guigó,Stylianos E. Antonarakis +27 more
TL;DR: The results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.
Book ChapterDOI
The nature and mechanisms of human gene mutation
TL;DR: In this article, the authors describe mechanisms of gene deletion and the DNA sequences that may predispose to such lesions, as well as potential mechanisms underlying insertions, duplications, or inversions, with representative examples.
Journal ArticleDOI
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Jérôme Lamartine,Guilherme Munhoz Essenfelder,Zoha Kibar,Isabelle Lanneluc,Edwige Callouet,Dalila Laoudj,Gilles Lemaitre,Colette Hand,Susan J. Hayflick,Jonathan Zonana,Stylianos E. Antonarakis,Uppala Radhakrishna,David P. Kelsell,A. L. Christianson,Amandine Pitaval,Vazken M. Der Kaloustian,C.M. F. Clarke Fraser Ph.D.,Claudine Blanchet-Bardon,Guy A. Rouleau,Gilles Waksman +19 more