Valentina Pinna

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

Valentina Pinna, Paola Daniele, Federica Consoli et al. · European Journal of Human Genetics · 2014 · 135 citations · Full text

Medicine, Genetics, Molecular Genetics +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 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 47 citations · Full text

Medicine, Obstetrics, Pediatrics +11

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

Medicine, Molecular Genetics, Neurology +13

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion

Irene Bottillo, Isabella Torrente, Valentina Pinna et al. · American Journal of Medical Genetics Part A · 2010 · 34 citations

Life Sciences, Genetics, Molecular Genetics +14