Martine Bucourt

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Ursula M. Smith, Mark Consugar, Louise Tee et al. · Nature Genetics · 2006 · 289 citations

Signal Transduction, Developmental Biology, Transmembrane Protein Meckelin +5

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 187 citations

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 et al. · Acta Neuropathologica · 2013 · 124 citations · Full text

Unknown Molecular Bases, Neurobiology Of Disease, Neurogenomics +14

Chronic histiocytic intervillositis: Outcome, associated diseases and treatment in a multicenter prospective study

A. Mékinian, N. Costedoat‐Chalumeau, A. Masseau et al. · Autoimmunity · 2014 · 90 citations

Structural chromosomal mosaicism and prenatal diagnosis

Eva Pipiras, Céline Dupont, Sandra Chantot‐Bastaraud et al. · Prenatal Diagnosis · 2004 · 74 citations