Luigi Bisceglia

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 977 citations

Life Sciences, Genetics, Molecular Genetics +5

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Jesús Purroy, F. Rousaud et al. · Nature Genetics · 1999 · 335 citations

Medicine, Genetics, Molecular Genetics +4

Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

Luca Dello Strologo, Elon Pras, C. Pontesilli et al. · Journal of the American Society of Nephrology · 2002 · 278 citations

Medicine, Genetics, Molecular Genetics +16

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia et al. · The American Journal of Human Genetics · 2001 · 244 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Molecular basis for the recently described hereditary hyperferritinemia- cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") [see comments]

Domenico Girelli, Roberto Corrocher, Luigi Bisceglia et al. · Blood · 1995 · 204 citations · Full text

Medicine, Genetics, Molecular Genetics +15