Valentina Pinna

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

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Alexandra MS Scott, Niccolò Di Giosaffatte, Valentina Pinna et al. · Genetics in Medicine · 2021 · 43 citations · Full text

Infertility, Fertility, Systematic Analysis +14

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Antonia Assunto, Ursula Pia Ferrara, Alessandro De Luca et al. · Orphanet Journal of Rare Diseases · 2019 · 36 citations · Full text

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Valentina Pinna, Paola Daniele, Giulio Calcagni et al. · Genes · 2019 · 33 citations · Full text