Luisa Nanni

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Deeann Wallis, Erich Roessler, Ute Hehr et al. · Nature Genetics · 1999 · 427 citations

Developmental Biology, Genetic Disorder, Genetics +4

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 359 citations · Full text

Hypertrophic cardiomyopathy: two homozygous cases with “typical” hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

Luisa Nanni, Maurizio Pieroni, Cristina Chimenti et al. · Biochemical and Biophysical Research Communications · 2003 · 80 citations

Homozygous Cases, New Mutations, Heart Failure +6

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

Filomena Campagna, Luisa Nanni, Fabiana Quagliarini et al. · Biochemical and Biophysical Research Communications · 2008 · 62 citations

Lipid Metabolism, Biochemistry, Lipid Disorders +6

Holoprosencephaly: Molecular study of a California Population

Luisa Nanni, Lisa Croen, Edward J. Lammer et al. · American Journal of Medical Genetics · 2000 · 49 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +14