Perrine Malzac
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Health, Medicine and Society, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France(2000)250 cited
- → The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region(1997)245 cited
- → Mutation Analysis of UBE3A in Angelman Syndrome Patients(1998)218 cited
- → The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy(2012)123 cited
- → Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients(1999)106 cited
- → Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling(1999)101 cited
- → Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children(2000)89 cited
- → Clinical Heterogeneity in 16 Patientswith inv dup 15 Chromosome:Cytogenetic and Molecular Studies,Search for an Imprinting Effect(1996)69 cited
- → Parental experience following perinatal death: exploring the issues to make progress(2010)48 cited
- → Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies(1997)46 cited