List of Publications
-
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations
Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini M v, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A
American journal of medical genetics Part A. 2020;182(8):1977–84
-
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics
Sferra A, Petrini S, Bellacchio E, Nicita F, Scibelli F, Dentici ML, Alfieri P, Cestra G, Bertini ES, Zanni G
International journal of molecular sciences. 2020 Feb 18;21(4)
-
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A
Medicine. 2020 Feb;99(8):e19169
-
Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication
Massimino CR, Smilari P, Greco F, Marino S, Vecchio D, Bartuli A, Parisi P, Cho SY, Pavone P
Neuropediatrics. 2020;51(5):359–63
-
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH)
Buonuomo PS, Mastrogiorgio G, Carletti M, Rana I, Macchiaiolo M, Gonfiantini MV, Vecchio D, Porzio O, Bartuli A
Pediatric cardiology. 2020;41(6):1242–3
-
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC
American journal of medical genetics Part A. 2020;182(5):1073–83
-
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M
Pediatric neurology. 2020;104:40–5
-
Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant
Mastrogiorgio G, Buonuomo PS, Rana I, Macchiaiolo M, Marchetti P, de Peppo F, Rinelli M, Gonfiantini MV, Novelli A, Bartuli A
Archives of disease in childhood. 2020 Jun 23
-
Genetics of atrioventricular canal defects
Pugnaloni F, Digilio MC, Putotto C, de Luca E, Marino B, Versacci P
Italian journal of pediatrics. 2020 May 13;46(1):61
-
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers
Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P
International journal of pediatric otorhinolaryngology. 2020 Feb;129:109790