Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans.

by Daniela Contu, Laura Morelli, Federico Santoni, Jamie W Foster, Paolo Francalacci, Francesco Cucca
Published 2008-01-01

A comparison of Y-chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture.

by Laura Morelli, Daniela Contu, Federico Santoni, Michael B Whalen, Paolo Francalacci, Francesco Cucca
Published 2010-04-01

Ablation of glucokinase-expressing tanycytes impacts energy balance and increases adiposity in mice

by Antoine Rohrbach, Emilie Caron, Rafik Dali, Maxime Brunner, Roxane Pasquettaz, Irina Kolotuev, Federico Santoni, Bernard Thorens, Fanny Langlet
Published 2021-11-01

The effect of genetic variation on promoter usage and enhancer activity

by Marco Garieri, Olivier Delaneau, Federico Santoni, Richard J. Fish, David Mull, Piero Carninci, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis, Alexandre Fort
Published 2017-11-01

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene

by Laura Marino, Andrea Messina, James S Acierno Jr, Franziska Phan-Hug, Nicolas J Niederländer, Federico Santoni, Stefano La Rosa, Nelly Pitteloud
Published 2021-06-01

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.

by Audrey Letourneau, Gilda Cobellis, Alexandre Fort, Federico Santoni, Marco Garieri, Emilie Falconnet, Pascale Ribaux, Anne Vannier, Michel Guipponi, Piero Carninci, Christelle Borel, Stylianos E Antonarakis
Published 2015-01-01

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

by Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos Panousis, Frédérique Sloan-Béna, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis
Published 2019-10-01

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

by Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef
Published 2014-05-01