Follow
Anna Maria Pinto
Anna Maria Pinto
azienda ospedaliera universitaria senese
Verified email at dbm.unisi.it
Title
Cited by
Cited by
Year
U1 snRNP determines mRNA length and regulates isoform expression
MG Berg, LN Singh, I Younis, Q Liu, AM Pinto, D Kaida, Z Zhang, S Cho, ...
Cell 150 (1), 53-64, 2012
4872012
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
2702020
U1 snRNP regulates cancer cell migration and invasion in vitro
JM Oh, CC Venters, C Di, AM Pinto, L Wan, I Younis, Z Cai, C Arai, BR So, ...
Nature communications 11 (1), 1, 2020
2142020
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
C Brahe, T Vitali, FD Tiziano, C Angelozzi, AM Pinto, F Borgo, U Moscato, ...
European Journal of Human Genetics 13 (2), 256-259, 2005
2082005
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Z Zhang, AM Pinto, L Wan, W Wang, MG Berg, I Oliva, LN Singh, ...
Proceedings of the National Academy of Sciences 110 (48), 19348-19353, 2013
1902013
U1 snRNP telescripting regulates a size–function-stratified human genome
JM Oh, C Di, CC Venters, J Guo, C Arai, BR So, AM Pinto, Z Zhang, L Wan, ...
Nature structural & molecular biology 24 (11), 993-999, 2017
1102017
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design
FD Tiziano, R Lomastro, AM Pinto, S Messina, A D'Amico, S Fiori, ...
Journal of medical genetics 47 (12), 856-858, 2010
872010
Alport syndrome: impact of digenic inheritance in patients management
C Fallerini, M Baldassarri, E Trevisson, V Morbidoni, A La Manna, ...
Clinical genetics 92 (1), 34-44, 2017
782017
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
FD Tiziano, AM Pinto, S Fiori, R Lomastro, S Messina, C Bruno, A Pini, ...
European journal of human genetics 18 (1), 52-58, 2010
562010
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints
C Gervasini, P Castronovo, A Bentivegna, F Mottadelli, F Faravelli, ...
Genomics 90 (5), 567-573, 2007
552007
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
A Giannini, AM Pinto, G Rossetti, E Prandi, D Tiziano, C Brahe, ...
Intensive care medicine 32, 1851-1855, 2006
552006
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome
E Landucci, M Brindisi, L Bianciardi, LM Catania, S Daga, S Croci, ...
Experimental cell research 368 (2), 225-235, 2018
462018
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
S Daga, F Donati, K Capitani, S Croci, R Tita, A Giliberti, F Valentino, ...
European Journal of Human Genetics 28 (4), 480-490, 2020
302020
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of …
E Gelli, M Colombo, AM Pinto, G De Vecchi, C Foglia, S Amitrano, ...
Cancers 11 (3), 295, 2019
282019
Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome
S Daga, M Baldassarri, C Lo Rizzo, C Fallerini, V Imperatore, I Longo, ...
Human mutation 39 (2), 302-314, 2018
212018
Non-collagen genes role in digenic Alport syndrome
S Daga, C Fallerini, S Furini, C Pecoraro, F Scolari, F Ariani, M Bruttini, ...
BMC nephrology 20, 1-9, 2019
202019
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
V Imperatore, AM Pinto, E Gelli, E Trevisson, V Morbidoni, E Frullanti, ...
European Journal of Human Genetics 26 (7), 1026-1037, 2018
202018
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation
AM Pinto, L Bianciardi, MA Mencarelli, V Imperatore, C Di Marco, S Furini, ...
Brain and Development 38 (6), 590-596, 2016
202016
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
A Catania, A Ardissone, D Verrigni, A Legati, A Reyes, E Lamantea, ...
Journal of human genetics 63 (5), 563-568, 2018
192018
Evidence of predisposing epimutation in retinoblastoma
E Gelli, AM Pinto, S Somma, V Imperatore, MG Cannone, T Hadjistilianou, ...
Human Mutation 40 (2), 201-206, 2019
182019
The system can't perform the operation now. Try again later.
Articles 1–20