Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier H. Jaglin, Karine Poirier, Yoann Saillour, +21

Nature Genetics

BiologyNatural SciencesGeneticsMolecular BiologyAsymmetrical Polymicrogyria +3

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès, +34

Brain

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, +26

Nature Genetics

Developmental AnomalyDevelopmental BiologyGenetic DisorderOral CavityGenetics +9

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, +22

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPathology +4

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Houda Karmous‐Benailly, Jelena Martinović, Marie-Claire Gübler, +26

The American Journal of Human Genetics

Developmental AnomalyPediatricsAntenatal Presentation

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate Chandler, +37

The American Journal of Human Genetics

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, +19

Acta Neuropathologica Communications

Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Chloé Quēlin, Claude Bendavid, Christèle Dubourg, +10

European Journal of Medical Genetics

Genetic DisorderGeneticsGenetic EpidemiologyPathologyTwelve New Patients +6

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle‐Biassette, Pascale Saugier-Véber, Catherine Fallet‐Bianco, +30

Acta Neuropathologica

Unknown Molecular BasesNeurobiology Of DiseaseNeurogenomicsEpendymaPediatric Hydrocephalus +12

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

Laurent Pasquier, Pascale Marcorelles, Philippe Loget, +9

Acta Neuropathologica