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.
Papers
More filters
Journal ArticleDOI
Novel missense mutations of TMPRSS3 in two consanguineous tunisian families with non-syndromic autosomal recessive deafness
Saber Masmoudi,Stylianos E. Antonarakis,Torsten Schwede,Abdel Monem Ghorbel,M’hamed Gratri,Marie-Pierre Pappasavas,Mohamed Drira,Amel Elgaied-Boulila,Marie Wattenhofer,Colette Rossier,Hamish S. Scott,Hammadi Ayadi,Michel Guipponi +12 more
TL;DR: Evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian families segregating congenital autosomal recessive sensorineural deafness is found.
Journal ArticleDOI
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
Tõnu Esko,Tõnu Esko,Massimo Mezzavilla,Mari Nelis,Mari Nelis,Christelle Borel,Tadeusz Dębniak,Eveliina Jakkula,Antonio Julià,Sena Karachanak,Andrey Khrunin,Péter Kisfali,Veronika Krulisova,Zita Ausrele Kucinskiene,Karola Rehnström,Michela Traglia,Liene Nikitina-Zake,Fritz Zimprich,Stylianos E. Antonarakis,Xavier Estivill,Damjan Glavač,Ivo Gut,Janis Klovins,Michael Krawczak,Vaidutis Kučinskas,Mark Lathrop,Mark Lathrop,Milan Macek,Sara Marsal,Thomas Meitinger,Béla Melegh,Svetlana A. Limborska,Jan Lubinski,Aarno Paolotie,Aarno Paolotie,Stefan Schreiber,Draga Toncheva,Daniela Toniolo,H-Erich Wichmann,Alexander Zimprich,Mait Metspalu,Mait Metspalu,Paolo Gasparini,Andres Metspalu,Andres Metspalu,Pio D'Adamo +45 more
TL;DR: The observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme according to several measures of isolation compared with Sardinians, French Basques and northern Finns, thus proving the status of an isolate.
Journal ArticleDOI
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
M. Reza Sailani,Periklis Makrythanasis,Armand Valsesia,Armand Valsesia,Armand Valsesia,Federico Santoni,Samuel Deutsch,Konstantin Popadin,Christelle Borel,Eugenia Migliavacca,Andrew J. Sharp,Genevieve Duriaux Sail,Emilie Falconnet,Kelly Rabionet,Clara Serra-Juhé,Stefano Vicari,D Laux,Yann Grattau,Guy Dembour,André Mégarbané,Renaud Touraine,Samantha Stora,Sofia Kitsiou,Helena Fryssira,Chariklia Chatzisevastou-Loukidou,Emmanouel Kanavakis,Giuseppe Merla,Damien Bonnet,Luis A. Pérez-Jurado,Xavier Estivill,Jean M. Delabar,Stylianos E. Antonarakis +31 more
TL;DR: It is proposed that the genetic architecture of the CHD risk of DS is complex and includes trisomy 21, and SNP and CNV variations in chromosome 21, in addition to a yet-unidentified genetic variation in the rest of the genome that may contribute to this complex genetic architecture.
Journal ArticleDOI
A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset
Maria D. Lalioti,Hamish S. Scott,Pierre Genton,D. Grid,Réda Ouazzani,Amel Mrabet,Sadi Ibrahim,R. Gouider,Charlotte Dravet,T. Chkili,Armand Bottani,Catherine Buresi,Alain Malafosse,Stylianos E. Antonarakis +13 more
TL;DR: It is suggested that once the dodecamer repeat expands beyond a critical threshold, cystatin B expression is reduced in certain cells, with pathological consequences.
Journal ArticleDOI
Isolation and initial characterization of the mouse Dnmt3l gene.
TL;DR: The mouse zinc finger gene, Dnmt3l (DNA cytosine-5-methyltransferase 3-like), is isolated and sequenced on mouse chromosome 10, showing similarity to members of the DNMT3/DnMT3 family.