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Alessandro Bruselles
Alessandro Bruselles
在 iss.it 的电子邮件经过验证
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ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ...
European Journal of Human Genetics 28 (11), 1602-1614, 2020
2782020
A specific mutational signature associated with DNA 8-oxoguanine persistence in MUTYH-defective colorectal cancer
A Viel, A Bruselles, E Meccia, M Fornasarig, M Quaia, V Canzonieri, ...
EBioMedicine 20, 39-49, 2017
2072017
Use of massively parallel ultradeep pyrosequencing to characterize the genetic diversity of hepatitis B virus in drug-resistant and drug-naive patients and to detect minor …
M Solmone, D Vincenti, MCF Prosperi, A Bruselles, G Ippolito, ...
Journal of virology 83 (4), 1718-1726, 2009
1922009
p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ...
European Journal of Human Genetics 23 (8), 1068-1071, 2015
1542015
Massively parallel pyrosequencing highlights minority variants in the HIV-1 env quasispecies deriving from lymphomonocyte sub-populations
G Rozera, I Abbate, A Bruselles, C Vlassi, G D'Offizi, P Narciso, G Chillemi, ...
Retrovirology 6, 1-13, 2009
1342009
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases
L Grassi, R Alfonsi, F Francescangeli, M Signore, ML De Angelis, ...
Cell death & disease 10 (3), 201, 2019
1322019
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ...
The American Journal of Human Genetics 96 (5), 816-825, 2015
1292015
Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I
P Fiorani, A Bruselles, M Falconi, G Chillemi, A Desideri, P Benedetti
Journal of Biological Chemistry 278 (44), 43268-43275, 2003
992003
Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome
CK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ...
The American Journal of Human Genetics 103 (4), 621-630, 2018
952018
Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
V Cordeddu, JC Yin, C Gunnarsson, C Virtanen, S Drunat, F Lepri, ...
Human mutation 36 (11), 1080-1087, 2015
912015
Combinatorial analysis and algorithms for quasispecies reconstruction using next-generation sequencing
MCF Prosperi, L Prosperi, A Bruselles, I Abbate, G Rozera, D Vincenti, ...
BMC bioinformatics 12, 1-13, 2011
902011
Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum
M Motta, L Pannone, F Pantaleoni, G Bocchinfuso, FC Radio, S Cecchetti, ...
The American Journal of Human Genetics 107 (3), 499-513, 2020
702020
Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging
E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ...
The American Journal of Human Genetics 105 (3), 493-508, 2019
692019
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ...
The American Journal of Human Genetics 108 (3), 502-516, 2021
652021
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
L Travaglini, C Aiello, F Stregapede, A D’Amico, V Alesi, A Ciolfi, ...
Neurogenetics 19, 111-121, 2018
602018
Cancer stem cell-based models of colorectal cancer reveal molecular determinants of therapy resistance
ML De Angelis, A Zeuner, E Policicchio, G Russo, A Bruselles, M Signore, ...
Stem cells translational medicine 5 (4), 511-523, 2016
602016
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
S Paolacci, Y Li, E Agolini, E Bellacchio, CE Arboleda-Bustos, D Carrero, ...
Journal of medical genetics 55 (12), 837-846, 2018
572018
Effect on DNA relaxation of the single Thr718Ala mutation in human topoisomerase I: a functional and molecular dynamics study
G Chillemi, P Fiorani, S Castelli, A Bruselles, P Benedetti, A Desideri
Nucleic acids research 33 (10), 3339-3350, 2005
562005
A new bioavailable fenretinide formulation with antiproliferative, antimetabolic, and cytotoxic effects on solid tumors
I Orienti, F Francescangeli, ML De Angelis, K Fecchi, ...
Cell Death & Disease 10 (7), 529, 2019
502019
Detection of quasispecies variants predicted to use CXCR4 by ultra-deep pyrosequencing during early HIV infection
I Abbate, C Vlassi, G Rozera, A Bruselles, B Bartolini, E Giombini, ...
Aids 25 (5), 611-617, 2011
502011
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