Francesca Torricelli - Publications

CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.

Journal: Ophthalmic genetics

Published: October 05, 2018

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 27, 2017

Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation.

Journal: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

Published: June 28, 2017

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.

Journal: Scientific reports

Published: June 01, 2017

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: May 27, 2016

Utility of droplet digital PCR for the quantitative detection of polyomavirus JC in clinical samples.

Journal: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology

Published: February 16, 2016

Draft Genome Sequence of Proteus mirabilis NO-051/03, Representative of a Multidrug-Resistant Clone Spreading in Europe and Expressing the CMY-16 AmpC-Type β-Lactamase.

Journal: Genome announcements

Published: February 13, 2016

Newborn bacteraemia caused by an Aeromonas caviae producing the VIM-1 and SHV-12 β-lactamases, encoded by a transferable plasmid.

Journal: The Journal of antimicrobial chemotherapy

Published: September 28, 2015

Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.

Journal: The American journal of cardiology

Published: September 22, 2015

Draft Genome Sequence of the First Hypermucoviscous Klebsiella quasipneumoniae subsp. quasipneumoniae Isolate from a Bloodstream Infection.

Journal: Genome announcements

Published: September 19, 2015

Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the bla(NMC-A) Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacter cloacae Complex.

Journal: Antimicrobial agents and chemotherapy

Published: June 19, 2015

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

Journal: Blood cells, molecules & diseases

Published: February 12, 2015