Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Caroline DEMILY"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Previous studies have produced conflicting results concerning the extent of magnitude representation deficit and its relationship with arithmetic achievement in children with 22q11.2 deletion syndrome. More specifically, it remain
Externí odkaz:
https://doaj.org/article/8ca31937099745cbb2a7f3338122c3bf
Autor:
Pierre Ellul, Anna Maruani, Valérie Vantalon, Elise Humeau, Anouck Amestoy, Andrea Anchordoqui, Paola Atzori, Jean-Marc Baleyte, Safiyah Benmansour, Olivier Bonnot, Manuel Bouvard, Ariane Cartigny, Nathalie Coulon, Romain Coutelle, David Da Fonseca, Caroline Demily, Marion Givaudan, Fanny Gollier-Briant, Fabian Guénolé, Andrea Koch, Marion Leboyer, Aline Lefebvre, Florian Lejuste, Charlotte Levy, Eugénie Mendes, Natalia Robert, Carmen M. Schroder, Mario Speranza, Elodie Zante, Hugo Peyre, Michelle Rosenzwajg, David Klatzmann, Nicolas Tchitchek, Richard Delorme
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Autism spectrum disorder (ASD) are neurodevelopmental conditions characterised by deficits in social communication and interaction and repetitive behaviours. Maternal immune activation (MIA) during the mid-pregnancy is a known risk factor fo
Externí odkaz:
https://doaj.org/article/69be2d49d6274fadb9fccaad12471aba
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Williams syndrome (WS) and Autism Spectrum Disorders (ASD) are neurodevelopmental conditions associated with atypical but opposite face-to-face interactions patterns: WS patients overly stare at others, ASD individuals escape eye
Externí odkaz:
https://doaj.org/article/5992e5a1ada0459fbdbed8da2a0710cb
Publikováno v:
STAR Protocols, Vol 4, Iss 1, Pp 101968- (2023)
Summary: Here, we present an optimized iDISCO+ protocol combining tissue clearing and light sheet microscopy to map the postnatal development of oxytocin and vasopressin neurons in mouse hypothalamus. We describe tissue preparation, immunostaining, c
Externí odkaz:
https://doaj.org/article/46b2d621426d40eeb9c6da517c7a44fe
Autor:
Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY
Publikováno v:
BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenot
Externí odkaz:
https://doaj.org/article/e46caa96fbbc4e0ab58e7ad30e9a30ff
Autor:
Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutati
Externí odkaz:
https://doaj.org/article/5729d532dd9647dfafac61eb5dbf6537
Publikováno v:
iScience, Vol 25, Iss 1, Pp 103655- (2022)
Summary: Oxytocin (OXT) and arginine vasopressin (AVP), two neuropeptides involved in socio-emotional behaviors have been anatomically defined in the adult brain. Yet their spatial organization during postnatal development is not clearly defined. We
Externí odkaz:
https://doaj.org/article/ef551c8f014f4bc3bc6bf0d41609653c
Publikováno v:
Brain Stimulation, Vol 15, Iss 3, Pp 678-679 (2022)
Externí odkaz:
https://doaj.org/article/5a01ca74147e4f5399cc16d4b1d31916
Autor:
Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-10 (2019)
Abstract Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To imp
Externí odkaz:
https://doaj.org/article/82edb3badd9e428b9096501733b083a1
Autor:
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
Abstract Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social di
Externí odkaz:
https://doaj.org/article/11f492c26ac74b05ad0d3a1140c45abd