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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A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas
Sergey Nikolaev,Sotirios K. Sotiriou,Ioannis S. Pateras,Federico Santoni,Stavros Sougioultzis,Henrik Edgren,Henrikki Almusa,Daniel Robyr,Michel Guipponi,Janna Saarela,Vassilis G. Gorgoulis,Stylianos E. Antonarakis,Thanos D. Halazonetis +12 more
TL;DR: It is proposed that single-stranded DNA generated in response to oncogene-induced replication stress compromises the repair of deaminated cytosines and other damaged bases, leading to the observed SNS mutator phenotype.
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Abnormal processing of beta Knossos RNA
TL;DR: It is found that some beta Knossos RNA transcripts are abnormally processed, utilizing a cryptic splice sequence that is enhanced by theknossos substitution.
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Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man
Stylianos E. Antonarakis,John A. Phillips,Richard L. Mallonee,Haig H. Kazazian,Eric R. Fearon,Pamela G. Waber,Henry M. Kronenberg,Axel Ullrich,Deborah A. Meyers +8 more
TL;DR: Using a parathyroid hormone (PTH) cDNA probe, it is found that the PTH and beta-globin loci are closely linked and the gene order on 11p is centromere-PTH-beta- globin-insulin.
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A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Periklis Makrythanasis,Samia A. Temtamy,Mona Aglan,Ghada A. Otaify,Hanan Hamamy,Stylianos E. Antonarakis +5 more
TL;DR: This is the first report of a homozygous loss‐of‐function mutation in FGFR3 in human that results in a skeletal overgrowth syndrome.
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The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells
C. Conover Talbot,Dimitri Avramopoulos,S. Gerken,Aravinda Chakravarti,John A.L. Armour,Norisada Matsunami,Richard White,Stylianos E. Antonarakis,Stylianos E. Antonarakis +8 more
TL;DR: Six novel polymorphic short sequence repeats were identified and localized on the linkage map of human chromosome 21 by genotyping the CEPH reference pedigrees and one of these markers, the tetrameric (AAAG)n repeat D21S1245, was found to be hypermutable, one of the mosthypermutable microsatellite repeat polymorphism in the human genome detected to date.