Maria Michela Rinaldi

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Jet Bliek, Gaetano Verde, Jonathan L A Callaway et al. · European Journal of Human Genetics · 2008 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Alessandro De Luca, Irene Bottillo, Anna Sárközy et al. · The American Journal of Human Genetics · 2005 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere et al. · European Journal of Human Genetics · 2003 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Giuseppe de Crecchio, Francesca Simonelli, Giuseppe Nunziata et al. · Clinical Genetics · 1998 · 68 citations

Life Sciences, Genetics, Ophthalmology +14

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

Paolo Guanciali‐Franchi, Giuseppe Calabrese, Elisena Morizio et al. · American Journal of Medical Genetics Part A · 2004 · 60 citations

Life Sciences, Genetics, Molecular Genetics +17