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
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis
Kylie E. Webster,Moira K O'Bryan,Stephen J. Fletcher,P E Crewther,Ulla Aapola,Jeffrey M. Craig,D. K. Harrison,Hnin Thanda Aung,Nawapen Phutikanit,Robert Lyle,Sarah J Meachem,Stylianos E. Antonarakis,David M. de Kretser,Mark P. Hedger,Pärt Peterson,Bernard J. Carroll,Hamish S. Scott +16 more
TL;DR: Because Dnmt3L expression is restricted to gonocytes, the presence of defects in later stages reveals a mechanism whereby early genome reprogramming is linked inextricably to changes in chromatin structure required for completion of spermatogenesis.
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Abnormal RNA processing due to the exon mutation of beta E-globin gene.
Stuart H. Orkin,Haig H. Kazazian,Stylianos E. Antonarakis,Harry Ostrer,Sabra C. Goff,Julianne P. Sexton +5 more
TL;DR: It is reported here that the complete nucleotide sequence of a βE-gene revealed the expected GAG → AAG change in codon 26 but no other mutations, demonstrating a disturbance in the expression of the βE -gene attributable solely to the exon mutation—a novel mechanism for gene dysfunction.
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DNA methylation profiles of human active and inactive X chromosomes.
Andrew J. Sharp,Elisavet Stathaki,Eugenia Migliavacca,Manisha Brahmachary,Stephen B. Montgomery,Yann Dupré,Stylianos E. Antonarakis +6 more
TL;DR: This study provides a detailed analysis of the epigenetic profile of active and inactive X chromosomes, observing a global correlation between CGI methylation and the evolutionary age of X-chromosome strata, and that genes escaping XCI show increased methylation within gene bodies.
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Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms
TL;DR: In trisomy 21 the extra chromosome 21 is maternal in origin in about 95 percent of the cases, and paternal in only about 5 percent--considerably less than has been reported with cytogenetic methods.
Journal ArticleDOI
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
Hanan Hamamy,Stylianos E. Antonarakis,Luigi Luca Cavalli-Sforza,Samia A. Temtamy,Giovanni Romeo,Leo P. ten Kate,Robin L. Bennett,Alison Shaw,André Mégarbané,Cornelia M. van Duijn,Heli Bathija,Siv Fokstuen,Eric Engel,Joël Zlotogora,Emmanouil T. Dermitzakis,Armand Bottani,Sophie Dahoun,Michael A. Morris,Steve Arsenault,Mona Aglan,Mubasshir Ajaz,Ayad Alkalamchi,Dhekra AlNaqeb,Mohamed K. Alwasiyah,Nawfal Anwer,Rawan Awwad,Melissa Bonnefin,M.D. Peter Corry,Lorraine Gwanmesia,Gulshan A. Karbani,Maryam Mostafavi,Tommaso Pippucci,Emmanuelle Ranza-Boscardin,Bruno Reversade,Saghira Malik Sharif,Marieke Teeuw,Alan H. Bittles +36 more
TL;DR: The ongoing strong preferential culture of close kin marriages in many societies, and among migrant communities in Western countries, merits an equivalently detailed assessment of the social and genetic benefits of consanguinity in future studies.