Silvana Ungari

Cuneo, 12100, Italy

Last Updated: 09/26/2026

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Found 8 publications

Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

Journal: Genes

Published: October 22, 2021

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Journal: Journal of nephrology

Published: May 28, 2020

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Journal: Molecular genetics & genomic medicine

Published: May 13, 2020

Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.

Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.

Journal: Journal of Alzheimer's disease : JAD

Published: April 05, 2018

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.

Journal: Genes, chromosomes & cancer

Published: February 05, 2018

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Journal: Clinical genetics

Published: January 23, 2017

A PNA-mediated clamping PCR for routine detection of KRAS mutations in colorectal carcinoma.

A PNA-mediated clamping PCR for routine detection of KRAS mutations in colorectal carcinoma.

Journal: The International journal of biological markers

Published: October 20, 2013

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Journal: Clinical genetics

Published: September 30, 2012

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Last Updated: 09/26/2026