A. Moncla
Société Française d'Endoscopie Digestive(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Hereditary Neurological Disorders, Autism Spectrum Disorder Research
Most-Cited Works
- → Mutation Analysis of UBE3A in Angelman Syndrome Patients(1998)218 cited
- → DNMT3B mutations and DNA methylation defect define two types of ICF syndrome(2004)133 cited
- → Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion(2008)129 cited
- → PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase(2006)126 cited
- Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.(1994)
- → Novel FOXG1 mutations associated with the congenital variant of Rett syndrome(2009)108 cited
- → Kabuki make-up (Niikawa-Kuroki) syndrome(1992)106 cited
- → Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children(2000)89 cited
- → Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update(2005)73 cited
- → Clinical Heterogeneity in 16 Patientswith inv dup 15 Chromosome:Cytogenetic and Molecular Studies,Search for an Imprinting Effect(1996)69 cited