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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Deciphering cell lineage specification during male sex determination with single-cell RNA sequencing
Isabelle Stévant,Yasmine Neirijnck,Christelle Borel,Jessica Escoffier,Lee B. Smith,Stylianos E. Antonarakis,Emmanouil T. Dermitzakis,Serge Nef +7 more
TL;DR: The dogma of the existence of two distinct somatic cell lineages at the onset of sex determination is questioned and a new model of lineage specification from a unique progenitor cell population is proposed.
Journal ArticleDOI
Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome.
Alexander G. Marneros,Hamid Mehenni,Ernst J Reichenberger,Stylianos E. Antonarakis,T. Krieg,Bjorn R. Olsen +5 more
TL;DR: The main candidate gene in this region, the gene for the transmembrane-type protein tyrosine phosphatase H (PTPRH), was mapped and no disease causing mutation was identified in PTPRH in affected individuals, suggesting the existence of an as yet not identified gene on 19q13.4 as a second PJS gene.
Journal ArticleDOI
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter.
TL;DR: This presumed human pericentrin gene (PCNT) is mapped to the long arm of chromosome 21 between marker PFKL and 21qter with PCR amplification, Southern blot analysis, and FISH to identify portions of genes from cosmid DNA of a human chromosome 21-specific library LL21NC02-Q.
Journal ArticleDOI
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Uppala Radhakrishna,Swapan K. Nath,Ken McElreavey,Uppala Ratnamala,Celi Sun,Amit K. Maiti,Maryline Gagnebin,Frédérique Béna,Heather L Newkirk,Andrew J. Sharp,David B. Everman,Jeffrey C. Murray,Charles E. Schwartz,Stylianos E. Antonarakis,Merlin G. Butler +14 more
TL;DR: The present study suggests that development of an omphalocele in this family is controlled by overexpression of one or more genes in the duplicated region, the first reported association of an inherited o mphalocele condition with a chromosomal rearrangement.