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
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes.
Stephan Eliez,Francisco Palacio-Espasa,A. Spira,M. Lacroix,C. Pont,F. Luthi,Christiane Robert-Tissot,Carl Feinstein,Daniel F. Schorderet,Stylianos E. Antonarakis,B. Cramer +10 more
TL;DR: The observations suggest a phenotype comprised of a borderline to mildly retarded level of intellectual functioning, a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought.
Journal ArticleDOI
"Compensatory" uniparental disomy of chromosome 21 in two cases.
Oliver Bartsch,Michael B. Petersen,I Stuhlmann,G Mau,Merete Frantzen,Eberhard Schwinger,Stylianos E. Antonarakis,Margareta Mikkelsen +7 more
TL;DR: It is reported here that this cytogenetic mechanism can result in false normal cytogenetics findings.
Journal ArticleDOI
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.
Sophie Dahoun,Sarantis Gagos,Maryline Gagnebin,Corinne Gehrig,Carole Burgi,Fabienne Simon,Chantal Vieux,Philippe Extermann,Robert Lyle,Michael A. Morris,Stylianos E. Antonarakis,Frédérique Béna,Jean-Louis Blouin +12 more
TL;DR: Analysis of microsatellite polymorphisms in multiple samples from the placenta, hand, lungs, kidneys and the umbilical cords of both twins confirmed monozygosity for all loci tested, and trisomy 21 in T1.
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).
A. K. Maiti,Lucia Bartoloni,HM Mitchison,M Meeks,Eddie M. K. Chung,SL Spiden,Corinne Gehrig,Colette Rossier,C. D. DeLozier-Blanchet,Jean-Louis Blouin,RM Gardiner,Stylianos E. Antonarakis +11 more
TL;DR: It is demonstrated that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined, and two families with complete aciliogenesis, and six families in which the affected members have microsatellite alleles concordant for a locus on distal chromosome 17q were screened for mutations.
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A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
Frédérique Béna,Stefania Gimelli,Eugenia Migliavacca,Nathalie Brun-Druc,Karin Buiting,Stylianos E. Antonarakis,Andrew J. Sharp +6 more
TL;DR: The observation that expanded repeats can act as catalysts for genomic rearrangement extends the role of triplet repeats in human disease, raising the possibility that similar repeat structures may act as substrates for pathogenic rearrangements genome-wide.