Luisa Nanni
Sapienza University of Rome(IT)
Publications by Year
Research Areas
Hedgehog Signaling Pathway Studies, Cleft Lip and Palate Research, Cardiomyopathy and Myosin Studies, Adipose Tissue and Metabolism, Lipid metabolism and biosynthesis
Most-Cited Works
- → Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly(1999)427 cited
- → The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly(1999)359 cited
- → SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature(2001)175 cited
- → Hypertrophic cardiomyopathy: two homozygous cases with “typical” hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy(2003)80 cited
- → Differential gene expression profiling in genetic and multifactorial cardiovascular diseases(2006)65 cited
- → Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy(2008)62 cited
- → Holoprosencephaly: Molecular study of a California Population(2000)49 cited
- → Molecular genetics of holoprosencephaly(2000)31 cited
- → Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis(2013)22 cited
- → Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia(2010)10 cited