Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
Hemant Bengani
,
Detelina Grozeva
,
Lambert Moyon
,
Shipra Bhatia
,
Susana R Louros
,
et al.
Article dans une revue
hal-03457539v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
COMT Val158Met Polymorphism Modulates Huntington's Disease Progression
Ruth de Diego-Balaguer
,
Catherine Schramm
,
Isabelle Rebeix
,
Emmanuel Dupoux
,
Alexandra Durr
,
et al.
Article dans une revue
hal-02326563v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
CNS/PNS boundary transgression by central glia in the absence of Schwann cells or Krox20/Egr2 function.
Fanny Coulpier
,
Laurence Decker
,
Benoît Funalot
,
Jean-Michel Vallat
,
Federico Garcia-Bragado
,
et al.
Article dans une revue
hal-00629786v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Genetic modification of the human germ line : the reasons why this project has faded
Michel Morange
Comptes Rendus Biologies , 2015, Biologie et devenir technologique de l'homme / Biology and the technological future of man - Bruxelles, 9 et 10 octobre 2014 / Brussels, 9 and 10 October 2014,
⟨10.1016/j.crvi.2015.07.005⟩
Article dans une revue
hal-01347711v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
A functional operon delineates an extracellular pathway that controls body asymmetry only in animals with a ciliated left-right organizer
Emmanuelle Szenker-Ravi
,
Tim Ott
,
Muznah Khatoo
,
Anne Moreau de Bellaing
,
Wei Xuan Goh
,
et al.
Article dans une revue
hal-03876795v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari
,
Fabienne Picard
,
Nienke E. Verbeek
,
Marjan van Kempen
,
Eva Brilstra
,
et al.
Article dans une revue
hal-02063270v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Individual differences in cocaine-induced conditioned place preference in male rats: Behavioral and transcriptomic evidence
Luisa Alessandra Atehortua Martinez
,
Emmanuel Curis
,
Nawel Mekdad
,
Claire Larrieu
,
Cindie Courtin
,
et al.
Article dans une revue
hal-03784427v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes
Diana Dincã
,
Anchel González-Barriga
,
Geraldine Sicot
,
Louison Lallemant
,
Laure-Elise Pillet
,
et al.
2022
Pré-publication, Document de travail
hal-03863376v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Translational study of the whole transcriptome in rats and genetic polymorphisms in humans identifies LRP1B and VPS13A as key genes involved in tolerance to cocaine-induced motor disturbances.
Florence Vorspan
,
Romain Icick
,
Nawel Mekdad
,
Cindie Courtin
,
Vanessa Bloch
,
et al.
Article dans une revue
hal-03024249v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Molecular Classification of Malignant Pleural Mesothelioma: Identification of a Poor Prognosis Subgroup Linked to the Epithelial-to-Mesenchymal Transition
Aurélien de Reyniès
,
Marie-Claude Jaurand
,
Annie Renier
,
Gabrielle Couchy
,
Ilir Hysi
,
et al.
Article dans une revue
inserm-02478599v2
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Classification of non-coding variants with high pathogenic impact
Lambert Moyon
,
Camille Berthelot
,
Alexandra Louis
,
Nga Thi Thuy Nguyen
,
Hugues Roest Crollius
Article dans une revue
hal-03698847v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
Alessandro Gialluisi
,
Till F M Andlauer
,
Nazanin Mirza-Schreiber
,
Kristina Moll
,
Jessica Becker
,
et al.
Article dans une revue
hal-02158502v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes
Diana Mihaela Dincã
,
Louison Lallemant
,
Anchel González-Barriga
,
Noemie Cresto
,
Sandra Braz
,
et al.
International Myotonic Dystrophy Consortium Meeting , Jun 2022, Osaka, Japan
Poster de conférence
hal-04006873v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari
,
Fabienne Picard
,
Nienke E. Verbeek
,
Marjan van Kempen
,
Eva Brilstra
,
et al.
Article dans une revue
hal-02066352v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
Eloisa Carta
,
Seo-Kyung Chung
,
Victoria M James
,
Angela Robinson
,
Jennifer L Gill
,
et al.
Article dans une revue
hal-04058197v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Gene x environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Sylvie Tordjman
,
Eszter Somogyi
,
Nathalie . Coulon
,
Solenn Kermarrec
,
David Cohen
,
et al.
Article dans une revue
hal-03118801v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
Giovanna Mantovani
,
Murat Bastepe
,
David Monk
,
Luisa de Sanctis
,
Susanne Thiele
,
et al.
Article dans une revue
hal-02392788v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Increased risk of ADHD in families with ASD
Mathilde Septier
,
Hugo Peyre
,
Fréderique Amsellem
,
Anita Beggiato
,
Anna Maruani
,
et al.
Article dans une revue
pasteur-04069013v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Unifying diseases through common genetic mechanisms: the example of the genetic theory of infectious diseases
Marie Darrason
Article dans une revue
halshs-00867328v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
The adhesion mediated by the P-selectin P-selectin glycoprotein ligand-1 (PSGL-1) couple is stronger for shorter PSGL-1 variants.
Sandrine Barbaux
,
Odette Poirier
,
Frédéric Pincet
,
Patricia Hermand
,
Laurence Tiret
,
et al.
Article dans une revue
hal-00594187v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
CADPS functional mutations in patients with bipolar disorder increase the sensitivity to stress
Jeremy Sitbon
,
Dennis Nestvogel
,
Caroline Kappeler
,
Aude Nicolas
,
Stephanie Maciuba
,
et al.
Article dans une revue
inserm-03709071v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Boundary Caps Give Rise to Neurogenic Stem Cells and Terminal Glia in the Skin
Aurélie Gresset
,
Fanny Coulpier
,
Gaspard Gerschenfeld
,
Alexandre Jourdon
,
Graziella Matesic
,
et al.
Article dans une revue
hal-01188808v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
RNA toxicity in myotonic dystrophy causes pronounced spliceopathy in astrocytes, in association with defective cell adhesion and morphology, erratic migration and impaired polarization
Diana Mihaela Dincã
,
Anchel González-Barriga
,
Sandra Braz
,
Laure-Elise Pillet
,
Noémie Cresto
,
et al.
Cold Spring Harbor Laboratory Meeting on Glia in Health and Disease , Jul 2020, Cold Spring Harbor (New York), United States
Poster de conférence
hal-04009836v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution.
Anne Desmazières
,
Laurence Decker
,
Jean-Michel Vallat
,
Patrick Charnay
,
Pascale Gilardi-Hebenstreit
Article dans une revue
hal-00651736v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria
Hugo Lenglet
,
Caroline Schmitt
,
Thomas Grange
,
Hana Manceau
,
Narjesse Karboul
,
et al.
Article dans une revue
hal-02351445v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations
F. Touzot
,
L. Kermasson
,
L. Jullien
,
D. Moshous
,
C. Ménard
,
et al.
Article dans une revue
hal-02105048v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity
Patrick Hanna
,
Virginie Grybek
,
Guiomar Perez de Nanclares
,
Léa Tran
,
Luisa de Sanctis
,
et al.
Article dans une revue
hal-02392800v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
Natacha Broucqsault
,
Julia Morere
,
Marie-Cécile Gaillard
,
Julie Dumonceaux
,
Julia Torrents
,
et al.
Article dans une revue
hal-01662672v1
Actions
Partager
Gmail
Facebook
Twitter
LinkedIn
More