Luisa Nanni - Concepedia

Author

Luisa Nanni

National Institutes of Health ORCID

Also Known As

L NANNI, L. Nanni, Luisa Nanni

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

National Institutes of Health Sapienza University of Rome National Human Genome Research Institute University of Pennsylvania Children's Hospital of Philadelphia

About

Luisa Nanni is an author at National Institutes of Health specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	628
2	Biochemistry	1	1	62
3	Diabetes	1	1	10
4	Metabolism	1	1	62
5	Molecular Genetics	1	1	427

Luisa Nanni

Publications

Citations

H-Index

Page 1

	Year	Citations
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly Deeann Wallis, Erich Roessler, Ute Hehr, Nature Genetics Developmental BiologyGenetic DisorderGeneticsAutophagyMolecular Genetics	1999	427
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, Human Molecular Genetics	1999	359
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, Biochemical and Biophysical Research Communications Homozygous CasesNew MutationsHeart FailureCardiomyopathyStructural Heart Disease	2003	80
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy Filomena Campagna, Luisa Nanni, Fabiana Quagliarini, Biochemical and Biophysical Research Communications Lipid MetabolismBiochemistryLipid DisordersNovel MutationsPathology	2008	62
Holoprosencephaly: Molecular study of a California Population Luisa Nanni, Lisa Croen, Edward J. Lammer, American Journal of Medical Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2000	49
Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis Federica Sentinelli, Ilenia Minicocci, Anna Montali, Journal of Lipids	2013	22
Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia Luisa Nanni, Fabiana Quagliarini, Francesca Megiorni, Atherosclerosis Metabolic SyndromeGenetic VariantsGeneticsDiabetesGenetic Epidemiology	2010	10

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