Marilyne Le Jule

Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Frédéric Brioude, Irène Netchine, Françoise Praz et al. · Human Mutation · 2015 · 87 citations

Life Sciences, Genetics, Molecular Genetics +17

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Walid Abi Habib, Salah Azzi, Frédéric Brioude et al. · Human Molecular Genetics · 2014 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

Salah Azzi, Virginie Steunou, Alexandra Rousseau et al. · Human Mutation · 2010 · 51 citations

Medicine, Genetics, Molecular Genetics +17

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Salah Azzi, Annick Blaise, Virginie Steunou et al. · Human Mutation · 2014 · 39 citations

Life Sciences, Genetics, Molecular Genetics +17

Exhaustive methylation analysis revealed uneven profiles of methylation at <i>IGF2/</i>ICR1<i>/H19</i> 11p15 loci in Russell Silver syndrome

Salah Azzi, Virginie Steunou, Jörg Tost et al. · Journal of Medical Genetics · 2014 · 20 citations

Life Sciences, Genetics, Molecular Genetics +17