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Fingerprint Dive into the research topics where Stefania Lenarduzzi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Hearing Loss Medicine & Life Sciences
Magnesium Medicine & Life Sciences
Genes Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Genome Medicine & Life Sciences
Urine Medicine & Life Sciences
Alleles Medicine & Life Sciences
Uniparental Disomy Medicine & Life Sciences

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Research Output 2016 2019

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, p. 107769 1 p.

Research output: Contribution to journalArticle

Hearing Loss
Alleles
Genes
Single Nucleotide Polymorphism
Usher Syndromes

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, 107769.

Research output: Contribution to journalArticle

Hearing Loss
Alleles
Genes
Single Nucleotide Polymorphism
Usher Syndromes

Genome-wide meta-analysis unravels interactions between magnesium homeostasis and metabolic phenotypes

Corre, T., Arjona, F. J., Hayward, C., Youhanna, S., De Baaij, J. H. F., Belge, H., Nägele, N., Debaix, H., Blanchard, M. G., Traglia, M., Harris, S. E., Ulivi, S., Rueedi, R., Lamparter, D., Macé, A., Sala, C., Lenarduzzi, S., Ponte, B., Pruijm, M., Ackermann, D. & 21 others, Ehret, G., Baptista, D., Polasek, O., Rudan, I., Hurd, T. W., Hastie, N. D., Vitart, V., Waeber, G., Kutalik, Z., Bergmann, S., Vargas-Poussou, R., Konrad, M., Gasparini, P., Deary, I. J., Starr, J. M., Toniolo, D., Vollenweider, P., Hoenderop, J. G. J., Bindels, R. J. M., Bochud, M. & Devuyst, O., Jan 1 2018, In : Journal of the American Society of Nephrology. 29, 1, p. 335-348 14 p.

Research output: Contribution to journalArticle

Magnesium
Meta-Analysis
Homeostasis
Genome
Phenotype
Uniparental Disomy
Hearing
Hearing Loss
Alleles
Single Nucleotide Polymorphism

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan, A., Lenarduzzi, S., Cappellani, S., Pecile, V., Morgutti, M., Orzan, E., Ghiselli, S., Ambrosetti, U., Brumat, M., Gajendrarao, P., Bianca, M. L., Faletra, F., Grosso, E., Sirchia, F., Sensi, A., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., 2018, In : Frontiers in Genetics. 2018 Dec 21, 9:681, p. 681

Research output: Contribution to journalArticle

Open Access