Lina Artifoni

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Wendy P. Robinson, John Wagstaff, Fosco Bernasconi et al. · Journal of Medical Genetics · 1993 · 125 citations · Full text

Pws Region Material, Uniparental Disomy, Mendelian Disorder +15

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Leda Dalprà, Daniela Giardino, Palma Finelli et al. · Genetics in Medicine · 2005 · 105 citations · Full text

Genetic Testing, Cytogenetics, Genetic Disorder +13

10p12.1 deletion: HDR phenotype without DGS2 features

Elisa Benetti, Luisa Murer, Andrea Bordugo et al. · Experimental and Molecular Pathology · 2008 · 85 citations

Genetics, Molecular Genetics, Disease Gene Identification +4

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Heather L. Wilson, John A. Crolla, Dena Walker et al. · European Journal of Human Genetics · 2008 · 81 citations · Full text

Developmental Biology, Developmental Cognitive Neuroscience, Developmental Genetics +9

Interleukin-8 and CXCR1 Receptor Functional Polymorphisms and Susceptibility to Acute Pyelonephritis

Lina Artifoni, Susanna Negrisolo, Giovanni Montini et al. · The Journal of Urology · 2007 · 77 citations