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
DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21.
Dimitrios Avramopoulos,Aravinda Chakravarti,Stylianos E. Antonarakis,Stylianos E. Antonarakis +3 more
TL;DR: It is concluded that the 3'UT region of genes is a relatively rich source of polymorphisms and that SSCA is an effective method of detecting the normal sequence variation in the human genome.
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Konstantinos Varvagiannis,Sylviane Hanquinet,Marie-Helene Billieux,R De Luca,Peter C. Rimensberger,Mathias Lidgren,Michel Guipponi,Periklis Makrythanasis,Jean-Louis Blouin,Stylianos E. Antonarakis,R Steinfeld,Ilse Kern,Andrea Poretti,Andrea Poretti,Joel Victor Fluss,Siv Fokstuen +15 more
TL;DR: Exome sequencing with targeted bioinformatic analysis of a panel of genes associated with prenatal/perinatal onset of neurodegenerative disease revealed the presence of a novel homozygous in‐frame deletion in CTSD, establishing the diagnosis of CLN10 in the patient.
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Germ-Line chromosomal localization of genes in chromosome 11p linkage: Parathyroid hormone, β-globin, c-Ha-ras-1, and insulin
TL;DR: In situ hybridization of meiotic pachytene bivalents with3H-labeled cloned genomic probes of PTH, β-globin, and insulin genes are performed and their germ-line positions are found to be the following: PTH at 11p11.21, β, globin and insulin at 11 p11.22, and diabetes at 12p14.1.
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A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome.
Thomas M Glaser,Daniel J. Driscoll,Stylianos E. Antonarakis,David Valle,David Valle,David Valle,David E. Housman +6 more
TL;DR: A new locus is defined in 11p13-delta J, which is close to the Wilms tumor gene and the breakpoint cluster region (TCL2) of the frequent t(11;14)(p13;q11) translocation in acute T-cell leukemia, in which an unusual concentration of base pair substitutions was discovered at delta J.