Publications by authors named "Paolo Simi"

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DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients.
Marzia Del Re, Saverio Cinieri, Angela Michelucci, Stefano Salvadori, Fotios Loupakis, Paolo Simi

Pharmacogenomics J· December 2019

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Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant.
Marzia Del Re, Erica Quaquarini, Federico Sottotetti, Angela Michelucci, Raffaella Palumbo, Paolo Simi

Pharmacogenomics· September 2016

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Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
Michele Lai, Massimo Pifferi, Andrew Bush, Martina Piras, Angela Michelucci, Paolo Simi

J Med Genet· April 2016

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625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
Veronica Bertini, Francesca Cambi, Rossella Bruno, Benedetta Toschi, Francesca Forli, Paolo Simi

J Hum Genet· December 2015

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Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients.
Marzia Del Re, Angela Michelucci, Angelo Di Leo, Maurizio Cantore, Roberto Bordonaro, Paolo Simi

EPMA J· September 2015

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A 17q duplication prenatally detected.
Rossella Bruno, Angelo Valetto, Veronica Bertini, Cinzia Cosini, Benedetta Toschi, Paolo Simi

Taiwan J Obstet Gynecol· June 2015

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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.
Massimo Pifferi, Andrew Bush, Angela Michelucci, Maria Di Cicco, Martina Piras, Paolo Simi

Pediatr Pulmonol· February 2015

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NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.
Silvano Bertelloni, Eleonora Dati, Fulvia Baldinotti, Benedetta Toschi, Giacinto Marrocco, Paolo Simi

Horm Res Paediatr· January 2015

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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion.
Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Paolo Simi

Case Rep Neurol Med· August 2014

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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
Daniele Orsucci, Loredana Petrucci, Elena Caldarazzo Ienco, Lucia Chico, Paolo Simi

Clin Neurol Neurosurg· May 2014

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Role of 18F-DOPA PET/CT in diagnosis and follow-up of adrenal and extra-adrenal paragangliomas.
Alessandra Bacca, Serena Chiacchio, Virna Zampa, Davide Carrara, Valerio Duce, Paolo Simi

Clin Nucl Med· January 2014

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IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.
Silvano Bertelloni, Giampiero I Baroncelli, Eleonora Dati, Silvia Ghione, Fulvia Baldinotti, Paolo Simi

Hormones (Athens)· November 2013

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Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
Chiara Di Marco, Anna Lavinia Bulotta, Concetta Varetti, Laura Dosa, Angela Michelucci, Paolo Simi

Gene· September 2013

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A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, Hashimoto thyroiditis and hirsutism.
Angelo Valetto, Veronica Bertini, Benedetta Toschi, Paolo Simi

Am J Med Genet A· September 2013

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Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.
Alessandra Bacca, Stefano Sellari Franceschini, Davide Carrara, Matteo Bernini, Virna Zampa, Paolo Simi

Head Neck· January 2013

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Clinical characteristics and genetic analysis in women with premature ovarian insufficiency.
Eleonora Ferrarini, Laura Russo, Franca Fruzzetti, Patrizia Agretti, Giuseppina De Marco, Paolo Simi

Maturitas· January 2013

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Pharmacogenetics of anti-estrogen treatment of breast cancer.
Marzia Del Re, Angela Michelucci, Paolo Simi, Romano Danesi

Cancer Treat Rev· August 2012

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Acro-cardio-facial syndrome: a microdeletion syndrome?
Benedetta Toschi, Angelo Valetto, Veronica Bertini, Caterina Congregati, Massimiliano Cantinotti, Paolo Simi

Am J Med Genet A· August 2012

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An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.
Veronica Bertini, David Viola, Paolo Vitti, Paolo Simi, Angelo Valetto

Gene· July 2012

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Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Angelo Valetto, Alessandro Orsini, Veronica Bertini, Benedetta Toschi, Alice Bonuccelli, Francesca Simi, Paolo Simi

Eur J Med Genet· May 2012

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Characterization of a complex rearrangement of a chromosome 20 by FISH and array CGH.
Veronica Bertini, Angelo Valetto, Giampiero I Baroncelli, Paolo Simi

Eur J Med Genet· October 2011

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Torque teno virus viremia load size in patients with selected congenital defects of innate immunity.
Fabrizio Maggi, Massimo Pifferi, Angela Michelucci, Melania Albani, Selenia Sbranti, Paolo Simi

Clin Vaccine Immunol· April 2011

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A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
Selina Piazza, Fulvia Baldinotti, Antonella Fogli, Maria Elena Conidi, Angela Michelucci, Paolo Simi

Neuromuscul Disord· December 2010

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Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
Angela Michelucci, Paolo Ghirri, Paola Iacopetti, Maria Elena Conidi, Antonella Fogli, Paolo Simi

Int J Pediatr Otorhinolaryngol· December 2010

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Dihydropyrimidine dehydrogenase polymorphisms and fluoropyrimidine toxicity: ready for routine clinical application within personalized medicine?
Marzia Del Re, Antonello Di Paolo, Ron H van Schaik, Guido Bocci, Paolo Simi

EPMA J· September 2010

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