Maria Giuseppina Miano

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

R. Vervoort, Alan Lennon, Alan C. Bird et al. · Nature Genetics · 2000 · 437 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +9

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

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 · 86 citations

New Mutations, Genetics, Genomic Mechanism +17

Pitfalls in Homozygosity Mapping

Maria Giuseppina Miano, Samuel G. Jacobson, Andrew D. Carothers et al. · The American Journal of Human Genetics · 2000 · 85 citations · Full text

Linkage Disequilibrium, Homozygosity Mapping, Medicine +5

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

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

Ocular Disease, Vitreous Body, Severe Progressive Course +12