X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot, +16

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderSyndromic AutismGenetic Disorder +13

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Pierre Billuart, T Bienvenu, Nathalie Ronce, +14

Nature

Developmental BiologyMolecular NeuroscienceSignal TransductionPsychiatryGenetics +5

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men*

Jean Gekas, F. Thépot, C Turleau, +8

Human Reproduction

Family MedicineChromosomal FactorsFertilityCytogeneticsGenetics +23

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel, +10

The American Journal of Human Genetics

Transcriptional RegulationDevelopmental BiologyGrowth HormoneHuman GrowthGenetic Disorder +8

STING agonist diABZI induces PANoptosis and DNA mediated acute respiratory distress syndrome (ARDS)

Yasmine Messaoud‐Nacer, Elodie Culerier, Stéphanie Rose, +6

Cell Death and Disease

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Lekbir Baala, Sylvain Briault, Heather Etchevers, +12

Nature Genetics

Transcriptional RegulationDevelopmental BiologyEpendymaGene RegulationHomozygous Silencing +7

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Florence Molinari, Marlène Rio, Virginia Meskenaïte, +9

Science

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

Antoine Muchir, Jacques Médioni, M. Laluc, +13

Muscle & Nerve

Nuclear StructureGeneticsPathologyMolecular BiologyCytoskeleton +16

Association of a Functional Deficit of the BK _Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation

Frédéric Laumonnier, Sébastien Roger, Pascaline Guérin, +15

American Journal of Psychiatry

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, +13

Molecular Psychiatry

Neurodevelopmental DisordersMolecular NeuroscienceDevelopmental BiologySyndromic AutismGenetic Disorder +11