Publications by authors named "Carlo Arduino"

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Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM).
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta

Antioxidants (Basel)· June 2022

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Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.
Stefano Paolacci, Raul Ettore Mattassi, Giuseppe Marceddu, Elena Manara, Alessandra Zulian, Carlo Arduino

J Clin Med· October 2020

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Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects.
Ausilia Enea, Antonio Pizzol, Michele Pinon, Fabio Cisarò, Francesco Tandoi, Carlo Arduino

Gut· April 2019

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Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma.
Laura Cristina Gironi, Enrico Colombo, Francesca Zottarelli, Andrea Guala, Carlo Arduino

Eur J Dermatol· April 2018

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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito

BMC Med Genet· March 2016

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NT5E mutations and arterial calcifications.
Cynthia St Hilaire, Shira G Ziegler, Thomas C Markello, Alfredo Brusco, Catherine Groden, Carlo Arduino

N Engl J Med· February 2011

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Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Alessandro Brussino, Claudio Graziano, Dario Giobbe, Marina Ferrone, Elisa Dragone, Carlo Arduino

Mov Disord· July 2010

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A deletion 3' to the PAX6 gene in familial aniridia cases.
Angela Valentina D'Elia, Lucia Pellizzari, Dora Fabbro, Annalisa Pianta, Maria Teresa Divizia, Carlo Arduino

Mol Vis· July 2007

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An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.
Alessandro Saluto, Alessandro Brussino, Flora Tassone, Carlo Arduino, Claudia Cagnoli

J Mol Diagn· November 2005

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Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
Virginia De Rose, Carlo Arduino, Nazario Cappello, Rita Piana, Paola Salmin

Eur J Hum Genet· January 2005

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Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
Ezio Gaia, Paola Salacone, Monica Gallo, Gianni Gerbino Promis, Alfredo Brusco, Arduino Carlo

Dig Dis Sci· November 2002

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Modifications of [3H]imipramine binding sites in platelets of chronic pain patients treated with mianserin.
Guido Magni, Francesca Andreoli, Carlo Arduino, Diego Arsie, Francesco Ceccherelli

Pain· September 1987

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