Anna Ficcadenti

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Valentina Lanari, Paola Daniele et al. · European Journal of Human Genetics · 2014 · 134 citations · Full text

Neurogenomics, Medicine, Distinctive Nf1 Phenotype +9

Oligosaccharides in 4 Different Milk Groups, <i>Bifidobacteria</i>, and <i>Ruminococcus obeum</i>

Giovanni V. Coppa, Orazio Gabrielli, Lucia Zampini et al. · Journal of Pediatric Gastroenterology and Nutrition · 2011 · 105 citations

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

Renzo Manara, Elena Priante, Marco Grimaldi et al. · Journal of Inherited Metabolic Disease · 2011 · 88 citations

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects

Eliana Disabella, Maurizia Grasso, Nicola Marziliano et al. · European Journal of Human Genetics · 2005 · 74 citations · Full text

Developmental Biology, Fbn1 Gene Defects, Mendelian Disorder +8

Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

Silvia Spena, Donatella Milani, Daniele Rusconi et al. · Clinical Genetics · 2014 · 65 citations

Rubinstein-taybi Syndrome, Creb-binding Protein, Genetics +17