Irma Dianzani

Distinct RNA profiles in subpopulations of extracellular vesicles: apoptotic bodies, microvesicles and exosomes

Rossella Crescitelli, Cecilia Lässer, Tamás Szabó et al. · Journal of Extracellular Vesicles · 2013 · 990 citations · Full text

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson et al. · Nature Genetics · 1999 · 782 citations

Genetics, Genomic Mechanism, Molecular Biology +7

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 352 citations · Full text

Metabolic Syndrome, Mendelian Disorder, Biochemistry +11

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Ilenia Boria, Emanuela Garelli, Hanna T. Gazda et al. · Human Mutation · 2010 · 226 citations · Full text

Genetics, Genetic Epidemiology, Molecular Biology +16

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

Thiébaut-Noël Willig, Natalia Draptchinskaia, Irma Dianzani et al. · PubMed · 1999 · 203 citations

Rps19 Gene, Mendelian Disorder, Phenotypic Expression +13