Mariateresa Paciolla

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

Francesca Fusco, Alessandra Pescatore, Élodie Bal et al. · Human Mutation · 2008 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla et al. · Human Mutation · 2013 · 87 citations

Life Sciences, Genetics, Molecular Genetics +15

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms

Francesca Fusco, Mariateresa Paciolla, Federico Napolitano et al. · Human Molecular Genetics · 2011 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF- B/p65 activation during in vitro oocyte maturation and early embryogenesis

Mariateresa Paciolla, Raffaele Boni, Francesca Fusco et al. · Human Reproduction · 2011 · 61 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +16

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region

Francesca Fusco, Mariateresa Paciolla, Emily Chen et al. · Human Reproduction · 2011 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +13