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1.

The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus.

Griffin, D K; Brezina, P R; Tobler, K; Zhao, Yulian; Silvestri, G; Mccoy, R C; Anchan, R; Benner, A; Cutting, G R; Kearns, W G.

Hum Reprod; 38(1): 180-188, 2023 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-36350568

2.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Lieto, M; Riso, V; Galatolo, D; De Michele, G; Rossi, S; Barghigiani, M; Cocozza, S; Pontillo, G; Trovato, R; Saccà, F; Salvatore, E; Tessa, A; Filla, A; Santorelli, F M; De Michele, G; Silvestri, G.

Eur J Neurol; 27(3): 498-505, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31571321

3.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini, C; Giorgio, E; Rubegni, A; Pradotto, L; Bagnoli, S; Rubino, E; Prontera, P; Cavalieri, S; Di Gregorio, E; Ferrero, M; Pozzi, E; Riberi, E; Ferrero, P; Nigro, P; Mauro, A; Zibetti, M; Tessa, A; Barghigiani, M; Antenora, A; Sirchia, F; Piacentini, S; Silvestri, G; De Michele, G; Filla, A; Orsi, L; Santorelli, F M; Brusco, A.

Eur J Neurol; 26(1): 80-86, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30098094

4.

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Perna, A; Masciullo, M; Modoni, A; Cellini, E; Parrini, E; Ricci, E; Donati, A M; Silvestri, G.

Eur J Neurol; 25(3): 602-605, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-29284203

5.

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

Santoro, M; Masciullo, M; Silvestri, G; Novelli, G; Botta, A.

Clin Genet; 92(4): 355-364, 2017 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-27991661

6.

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Di Nottia, M; Masciullo, M; Verrigni, D; Petrillo, S; Modoni, A; Rizzo, V; Di Giuda, D; Rizza, T; Niceta, M; Torraco, A; Bianchi, M; Santoro, M; Bentivoglio, A R; Bertini, E; Piemonte, F; Carrozzo, R; Silvestri, G.

Clin Genet; 92(1): 18-25, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-27460976

7.

Lung cancer risk test trial: study design, participant baseline characteristics, bronchoscopy safety, and establishment of a biospecimen repository.

Crawford, E L; Levin, A; Safi, F; Lu, M; Baugh, A; Zhang, X; Yeo, J; Khuder, S A; Boulos, A M; Nana-Sinkam, P; Massion, P P; Arenberg, D A; Midthun, D; Mazzone, P J; Nathan, S D; Wainz, R; Silvestri, G; Tita, J; Willey, J C.

BMC Pulm Med; 16: 16, 2016 Jan 22.

Artículo en Inglés | MEDLINE | ID: mdl-26801409

8.

A man with sarcoidosis and slurred speech.

Nicoletti, T; Gaudino, S; Colacicco, G; Ausili Cefaro, L; Tasca, G; Guglielmi, V; Modoni, A; Gessi, M; Silvestri, G; Frisullo, G.

Eur J Neurol; 27(1): e7-e8, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31448461

9.

Unsupervised explorative data analysis of normal human leukocytes and BCR/ABL positive leukemic cells mid-infrared spectra.

Bellisola, G; Bolomini Vittori, M; Cinque, G; Dumas, P; Fiorini, Z; Laudanna, C; Mirenda, M; Sandt, C; Silvestri, G; Tomasello, L; Vezzalini, M; Wehbe, K; Sorio, C.

Analyst; 140(13): 4407-22, 2015 Jul 07.

Artículo en Inglés | MEDLINE | ID: mdl-25988195

10.

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.

Riso, Vittorio; Rossi, S; Perna, A; Nicoletti, T; Bosco, L; Zanni, G; Silvestri, G.

Neurol Sci; 41(10): 2989-2991, 2020 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-32367327

11.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Stone, E M; Lotery, A J; Munier, F L; Héon, E; Piguet, B; Guymer, R H; Vandenburgh, K; Cousin, P; Nishimura, D; Swiderski, R E; Silvestri, G; Mackey, D A; Hageman, G S; Bird, A C; Sheffield, V C; Schorderet, D F.

Nat Genet; 22(2): 199-202, 1999 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-10369267

12.

Muscle MRI in female carriers of dystrophinopathy.

Tasca, G; Monforte, M; Iannaccone, E; Laschena, F; Ottaviani, P; Silvestri, G; Masciullo, M; Mirabella, M; Servidei, S; Ricci, E.

Eur J Neurol; 19(9): 1256-60, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-22583668

13.

Tubulointerstitial nephritis and uveitis in Northern Ireland.

Heaney, A; McLoone, E; Williams, M; Silvestri, G; Courtney, A E; O'Rourke, D; McAvoy, C E.

Eye (Lond); 36(8): 1645-1650, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-34326494

14.

Analysis of bovine blastocysts indicates ovarian stimulation does not induce chromosome errors, nor discordance between inner-cell mass and trophectoderm lineages.

Tutt, D A R; Silvestri, G; Serrano-Albal, M; Simmons, R J; Kwong, W Y; Guven-Ates, G; Canedo-Ribeiro, C; Labrecque, R; Blondin, P; Handyside, A H; Griffin, D K; Sinclair, K D.

Theriogenology; 161: 108-119, 2021 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-33307428

15.

Immunity in natural SIV infections.

Silvestri, G.

J Intern Med; 265(1): 97-109, 2009 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-19093963

16.

Early divergence in lymphoid tissue apoptosis between pathogenic and nonpathogenic simian immunodeficiency virus infections of nonhuman primates.

Cumont, M-C; Diop, O; Vaslin, B; Elbim, C; Viollet, L; Monceaux, V; Lay, S; Silvestri, G; Le Grand, R; Müller-Trutwin, M; Hurtrel, B; Estaquier, J.

J Virol; 82(3): 1175-84, 2008 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-18032487

17.

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

Masciullo, M; Silvestri, G; Modoni, A; Tessa, A; Bianchi, M L E; Santorelli, F M.

Clin Genet; 86(4): 396-7, 2014 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-24164681

18.

Retinal drusen: harbingers of age, safe havens for trouble.

Williams, M A; Craig, D; Passmore, P; Silvestri, G.

Age Ageing; 38(6): 648-54, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19726434

19.

ERIGO: a possible strategy to treat orthostatic hypotension in progressive supranuclear palsy? A feasibility study.

Sorbera, C; Portaro, S; Cimino, V; Leo, A; Accorinti, M; Silvestri, G; Bramanti, Placido; Naro, A; Calabrò, Rocco Salvatore.

Funct Neurol; 34(2): 93-97, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31556389

20.

Validation of two models to estimate the probability of malignancy in patients with solitary pulmonary nodules.

Schultz, E M; Sanders, G D; Trotter, P R; Patz, E F; Silvestri, G A; Owens, D K; Gould, M K.

Thorax; 63(4): 335-41, 2008 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-17965070

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