Paolo Simi
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Explore the profile of Paolo Simi including associated specialties, affiliations and a list of published articles.
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Articles
54
Citations
322
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Recent Articles
1.
Del Re M, Cinieri S, Michelucci A, Salvadori S, Loupakis F, Schirripa M, et al.
Pharmacogenomics J
. 2019 Feb;
19(6):556-563.
PMID: 30723313
Dihydropyrimidine dehydrogenase (DPYD) is a highly polymorphic gene and classic deficient variants (i.e., c.1236G>A/HapB3, c.1679T>G, c.1905+1G>A and c.2846A>T) are characterized by impaired enzyme activity and risk of severe adverse drug...
2.
Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, et al.
J Med Genet
. 2016 Jan;
53(4):242-9.
PMID: 26729821
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder characterised by dysfunction of motile cilia. Ciliary dysmotility causes poor mucociliary clearance and leads to impairment of pulmonary...
3.
Del Re M, Quaquarini E, Sottotetti F, Michelucci A, Palumbo R, Simi P, et al.
Pharmacogenomics
. 2015 Dec;
17(1):5-9.
PMID: 26651493
DPD is the rate-limiting enzyme involved in the metabolism of 5-fluorouracil and its prodrugs, capecitabine and tegafur. Many cases of severe toxicities by fluoropyrimidines are reported in the literature, sometimes...
4.
Bertini V, Cambi F, Bruno R, Toschi B, Forli F, Berrettini S, et al.
J Hum Genet
. 2015 Sep;
60(12):777-80.
PMID: 26354035
Here, we report on a patient with a 625 kb duplication in Xp22.12, detected by array comparative genomic hybridization (CGH). The duplicated region contains only one gene, RPS6KA3, that results...
5.
Del Re M, Michelucci A, Di Leo A, Cantore M, Bordonaro R, Simi P, et al.
EPMA J
. 2015 Sep;
6(1):17.
PMID: 26330892
Background: Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme of the metabolic pathway of 5-fluorouracil (5-FU) and other fluoropyrimidines to inactive compounds. For this reason, severe, life-threatening toxicities may...
6.
Bruno R, Valetto A, Bertini V, Cosini C, Toschi B, Congregati C, et al.
Taiwan J Obstet Gynecol
. 2015 Jul;
54(3):326-9.
PMID: 26166353
No abstract available.
7.
Tremolizzo L, Sala G, Conti E, Rodriguez-Menendez V, Fogli A, Michelucci A, et al.
Case Rep Neurol Med
. 2014 Aug;
2014:216094.
PMID: 25143843
Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G>A) within the spastin gene and a homozygous deletion of the SMN2 gene....
8.
Pifferi M, Bush A, Michelucci A, Di Cicco M, Piras M, Caramella D, et al.
Pediatr Pulmonol
. 2014 Apr;
50(2):179-86.
PMID: 24753481
Background: Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. Hypothesis: MBL...
9.
Orsucci D, Petrucci L, Caldarazzo Ienco E, Chico L, Simi P, Fogli A, et al.
Clin Neurol Neurosurg
. 2014 Apr;
120:14-9.
PMID: 24731568
Objective: Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvement of the pyramidal tracts. Aim of this study is the clinical and molecular characterization...
10.
Bertelloni S, Dati E, Baldinotti F, Toschi B, Marrocco G, Sessa M, et al.
Horm Res Paediatr
. 2014 Jan;
81(2):104-8.
PMID: 24434652
Background: Steroidogenic factor 1, encoded by the NR5A1 gene, is a key regulator of endocrine function within the hypothalamic-pituitary-steroidogenic axis. Both homozygous, compound heterozygous and heterozygous mutations in the NR5A1...