Anne-Lise Delezoide

DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome

Aude-Marie Lepagnol-Bestel, Ágnes Zvara, Gilles Maussion et al. · Human Molecular Genetics · 2009 · 137 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

<i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi et al. · Human Mutation · 2009 · 88 citations

Life Sciences, Genetics, Molecular Genetics +17

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Laïla El Khattabi, Fabien Guimiot, Eva Pipiras et al. · European Journal of Human Genetics · 2014 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Coexpression of Wilms’ tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1

Birgit Köhler, Anne-Lise Delezoide, Brigitte Boizet-Bonhoure et al. · Journal of Molecular Endocrinology · 2007 · 34 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

<i>EXT 1</i> Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses

Laurence Legeai‐Mallet, Antonio Rossi, Catherine Benoist-Lasselin et al. · Journal of Bone and Mineral Research · 2000 · 33 citations

Medicine, Genetics, Molecular Genetics +14