Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès, +34

Brain

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch, +69

The American Journal of Human Genetics

Developmental BiologyPulmonary PathologyMedicinePathologyBronchial Neoplasm +5

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

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

Apolipoprotein AI and Transthyretin as Components of Amyloid Fibrils in a Kindred with apoAI Leu178His Amyloidosis

Mónica Mendes Sousa, C Vital, Dominique Ostler, +4

American Journal Of Pathology

Alzheimer's DiseaseApoai Leu178his AmyloidosisBiochemistryAmyloid FibrilsPathology +4

Molecular heterogeneity in fetal forms of type II lissencephaly

C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, +31

Human Mutation

<i>OTX2</i> mutations contribute to the otocephaly-dysgnathia complex

Nicolas Chassaing, Susanna Sorrentino, Erica E. Davis, +21

Journal of Medical Genetics

Prenatal Diagnosis of Schizencephaly by Fetal Magnetic Resonance Imaging

Delphine Denis, B. Maugey‐Laulom, Dominique Carles, +3

Fetal Diagnosis and Therapy

Medical ImagingNeuroanatomyOpen SchizencephalyVentricular DilatationFetal Medicine +13

Contribution of referent pathologists to the quality of trophoblastic diseases diagnosis

François Golfier, Jérôme Clerc, Touria Hajri, +12

Human Reproduction