James Lespinasse

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Catherine Dodé, Luís Teixeira, Jacqueline Levilliers et al. · PLoS Genetics · 2006 · 451 citations · Full text

Kallmann Syndrome Combines, Human Growth, Genetics +21

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle, Frédérique Béna, Sarantis Gagos et al. · European Journal of Human Genetics · 2008 · 325 citations · Full text

Down Syndrome, Array Cgh, Cytogenetics +6

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

Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel et al. · The American Journal of Human Genetics · 2002 · 294 citations · Full text

Transcriptional Regulation, Developmental Biology, Growth Hormone +10

Germline mutation profile of<i>MEN1</i>in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

Virginie Wautot, Cécile Vercherat, James Lespinasse et al. · Human Mutation · 2002 · 155 citations

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma

Giuseppe Gasparre, Éric Hervouet, Elodie de Laplanche et al. · Human Molecular Genetics · 2007 · 151 citations

Genetics, Renal Pathology, Pathology +17