Maurizio Clementi
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Explore the profile of Maurizio Clementi including associated specialties, affiliations and a list of published articles.
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124
Citations
3022
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Recent Articles
1.
Sorrentino U, Bellonzi S, Mozzato C, Brasson V, Toldo I, Parrozzani R, et al.
Cancers (Basel)
. 2021 Dec;
13(24).
PMID: 34944956
An increased lifetime risk of epilepsy has been reported in neurofibromatosis type 1 (NF1) patients, ranging between 4% and 14%. To further analyze the correlation between NF1 and epilepsy, we...
2.
Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali D, Giorgi G, et al.
Cancers (Basel)
. 2021 Mar;
13(5).
PMID: 33673681
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular...
3.
Munn-Chernoff M, Johnson E, Chou Y, Coleman J, Thornton L, Walters R, et al.
Addict Biol
. 2020 Feb;
26(1):e12880.
PMID: 32064741
Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia...
4.
Cassina M, Frizziero L, Opocher E, Parrozzani R, Sorrentino U, Viscardi E, et al.
Cancers (Basel)
. 2019 Nov;
11(11).
PMID: 31739524
Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor development. Optic pathway glioma (OPG) is the most frequent central nervous system tumor in children with NF1, affecting...
5.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks A, Sharp A, et al.
Hum Mutat
. 2019 Oct;
41(1):299-315.
PMID: 31595648
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort,...
6.
Evans D, Kallionpaa R, Clementi M, Trevisson E, Mautner V, Howell S, et al.
Genet Med
. 2019 Oct;
22(1):242.
PMID: 31591510
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
7.
Evans D, Kallionpaa R, Clementi M, Trevisson E, Mautner V, Howell S, et al.
Genet Med
. 2019 Sep;
22(2):398-406.
PMID: 31495828
Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by pathogenic variants of the NF1 gene. A markedly increased risk of breast cancer is associated with NF1. We have...
8.
Watson H, Yilmaz Z, Thornton L, Hubel C, Coleman J, Gaspar H, et al.
Nat Genet
. 2019 Jul;
51(8):1207-1214.
PMID: 31308545
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness, affecting 0.9-4% of women and 0.3% of men, with twin-based heritability estimates of 50-60%. Mortality...
9.
Parrozzani R, Leonardi F, Frizziero L, Trevisson E, Clementi M, Pilotto E, et al.
Ophthalmol Retina
. 2019 May;
2(8):827-835.
PMID: 31047537
Purpose: To investigate the pathophysiologic interrelations between retinal neural and vascular changes, detected by spectral-domain OCT (SD-OCT) and OCT angiography (OCTA), resulting from optic nerve axonal degeneration. Design: Institutional, observational,...
10.
Cassina M, Fascetti Leon F, Ruol M, Chiarenza S, Scire G, Midrio P, et al.
J Pediatr Surg
. 2019 Apr;
54(10):1998-2003.
PMID: 30935729
Background: Anorectal malformations (ARMs) are the most frequent congenital intestinal anomalies. The aim of this study was to describe the epidemiology of anorectal defects between 1981 and 2014 and to...