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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An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
Uppala Radhakrishna,Jean-Louis Blouin,Jitendra V. Solanki,Ghanshyam M. Dhoriani,Stylianos E. Antonarakis +4 more
TL;DR: In this article, a large Indian pedigree (UR002) with an autosomal dominant triphalangeal thumb (TPT) and polysyndactyly (PSD) was studied, and the abnormalities were present only in the upper limbs.
Journal Article
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance.
Donald W. Bowden,Gita Akots,Cynthia B. Rothschild,K F Falls,M J Sheehy,Caroline Hayward,A Mackie,J Baird,David J. H. Brock,Stylianos E. Antonarakis +9 more
TL;DR: Analysis strongly suggests that MODY as expressed in the EDI and WIS families is unlinked to loci on chromosome 20, and three polymorphic loci-D20S16, D20S17, and ADA--show no recombination with the MODY locus when two-point linkage analysis is used in the early-onset branches of the family.
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Muhammad Ansar,Emmanuelle Ranza,Madhur Shetty,Sohail A. Paracha,Maleeha Azam,Ilse Kern,Justyna Iwaszkiewicz,Omer Farooq,Constantin J. Pournaras,Ariane Malclès,Mateusz Kecik,Carlo Rivolta,Carlo Rivolta,Waqar Muzaffar,Aziz Qurban,Liaqat Ali,Yacine Aggoun,Federico Santoni,Periklis Makrythanasis,Jawad Ahmed,Raheel Qamar,Muhammad T. Sarwar,L. Keith Henry,Stylianos E. Antonarakis +23 more
TL;DR: In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal, and a long-term supplementation treatment was introduced.
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NANOG priming before full reprogramming may generate germ cell tumours.
Iwona Grad,Youssef Hibaoui,Marisa Jaconi,Laurie Chicha,Rosita Bergström-Tengzelius,M R Sailani,M F Pelte,Sophie Dahoun,Thimios A. Mitsiadis,Töhönen,Serge Bouillaguet,Stylianos E. Antonarakis,Juha Kere,Marco Zucchelli,Outi Hovatta,Anis Feki +15 more
TL;DR: The results underline the importance of a re-examination of the role of NANOG during reprogramming and provide insights into primordial cell tumour formation and cancer stem cell transformation.
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Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.
Jean Villard,Walter Reith,Emmanuèle Barras,Arnaud Gos,Michael A. Morris,Stylianos E. Antonarakis,Peter J. van den Elsen,Bernard Mach +7 more
TL;DR: The mutations in all four patients known to harbour a defect in the RFX5 gene are characterised and this new human disease gene is mapped to chromosome 1 band q21, a region frequently exhibiting chromosomal aberrations in a variety of preneoplastic and neoplastic diseases.