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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Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
Homa Attar,Karen Bedard,Eugenia Migliavacca,Eugenia Migliavacca,Maryline Gagnebin,Yann Dupré,Patrick Descombes,Christelle Borel,Samuel Deutsch,Holger Prokisch,Thomas Meitinger,Divya Mehta,Erich Wichmann,Jean-Maurice Delabar,Emmanouil T. Dermitzakis,Karl-Heinz Krause,Stylianos E. Antonarakis +16 more
TL;DR: The results show strong evidence of genetic control of H2O2 in LCL of healthy and DS cohorts and suggest that cellular phenotypes, which themselves are also complex, may be used as proxies for dissection of complex disorders.
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BglII polymorphic site downstream to the human apolipoprotein AIV (apoAIV) gene.
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SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
Emmanuelle Ranza,Werner J. Z’Graggen,Mathias Lidgren,Maurice Beghetti,Michel Guipponi,Michel Guipponi,Stylianos E. Antonarakis,Stylianos E. Antonarakis,Michael Absoud,Michael Absoud,Sushma Goyal,Deb K. Pal,Deb K. Pal,Christian Korff +13 more
TL;DR: The observation enriches the spectrum of seizures linked with SCN8A pathogenic variants, and suggests, for the first time, a link between SCN 8A pathogen variants and AES.
Journal ArticleDOI
Erratum: Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness (Human Mutation (2201) 18 (101-108))
Saber Masmoudi,Stylianos E. Antonarakis,Torsten Schwede,Abdel Monem Ghorbel,M'hamed Grati,Marie-Pierre Pappasavas,Mohamed Drira,Amel Elgaied-Boulila,Marie Wattenhofer,Colette Rossier,Hamish S. Scott,Hammadi Ayadi,Michel Guipponi +12 more
TL;DR: In this article, the authors proposed a new method to solve the problem of gender discrimination in the media, which is based on the concept of gender equality, and discussed gender equality.