CEPID CEGH-CEL
CEPID CEGH-CEL
Centro de Pesquisa sobre Genoma Humano e Células-Tronco
E-mail confirmado em usp.br - Página inicial
TítuloCitado porAno
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
A Keller, A Westenberger, MJ Sobrido, M García-Murias, A Domingo, ...
Nature genetics 45 (9), 1077, 2013
1562013
Approach to the diagnosis of congenital myopathies
KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ...
Neuromuscular Disorders 24 (2), 97-116, 2014
1342014
The intronic long noncoding RNA ANRASSF1 recruits PRC2 to the RASSF1A promoter, reducing the expression of RASSF1A and increasing cell proliferation
FC Beckedorff, AC Ayupe, R Crocci-Souza, MS Amaral, HI Nakaya, ...
PLoS genetics 9 (8), e1003705, 2013
1092013
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
K Griesi-Oliveira, A Acab, AR Gupta, DY Sunaga, T Chailangkarn, X Nicol, ...
Molecular psychiatry 20 (11), 1350, 2015
1052015
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
SC Hsu, RL Sears, RR Lemos, B Quintáns, A Huang, E Spiteri, L Nevarez, ...
Neurogenetics 14 (1), 11-22, 2013
1042013
Autophagy and genomic integrity
AT Vessoni, EC Filippi-Chiela, CFM Menck, G Lenz
Cell death and differentiation 20 (11), 1444, 2013
1022013
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ...
Journal of medical genetics 52 (6), 413-421, 2015
932015
DNA repair diseases: What do they tell us about cancer and aging?
CFM Menck, V Munford
Genetics and molecular biology 37 (1), 220-233, 2014
902014
Jagged 1 rescues the Duchenne muscular dystrophy phenotype
NM Vieira, I Elvers, MS Alexander, YB Moreira, A Eran, JP Gomes, ...
Cell 163 (5), 1204-1213, 2015
802015
Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia
DYS Tanikawa, M Aguena, DF Bueno, MR Passos-Bueno, N Alonso
Plastic and reconstructive surgery 132 (1), 141-152, 2013
762013
Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes
RM de Castilhos, GV Furtado, TC Gheno, P Schaeffer, A Russo, ...
The Cerebellum 13 (1), 17-28, 2014
632014
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
NM Vieira, MS Naslavsky, L Licinio, F Kok, D Schlesinger, M Vainzof, ...
Human molecular genetics 23 (15), 4103-4110, 2014
622014
The role of DNA repair in the pluripotency and differentiation of human stem cells
CRR Rocha, LK Lerner, OK Okamoto, MC Marchetto, CFM Menck
Mutation Research/Reviews in Mutation Research 752 (1), 25-35, 2013
622013
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy
DM Haddad, S Vilain, M Vos, G Esposito, S Matta, VM Kalscheuer, ...
Molecular cell 50 (6), 831-843, 2013
562013
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ...
European Journal of Human Genetics 23 (3), 292, 2015
542015
Combined effects of pericytes in the tumor microenvironment
AL Ribeiro, OK Okamoto
Stem cells international 2015, 2015
542015
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects
FP Favaro, L Alvizi, RM Zechi-Ceide, D Bertola, TM Felix, J de Souza, ...
The American Journal of Human Genetics 94 (1), 120-128, 2014
512014
Redox regulation of the proteasome via S-glutathionylation
M Demasi, LES Netto, GM Silva, A Hand, CLP de Oliveira, RN Bicev, ...
Redox biology 2, 44-51, 2014
502014
Factors associated with lower gait speed among the elderly living in a developing country: a cross-sectional population-based study
T de Almeida Busch, YA Duarte, DP Nunes, ML Lebrão, MS Naslavsky, ...
BMC geriatrics 15 (1), 35, 2015
482015
Glutathione depletion sensitizes cisplatin- and temozolomide-resistant glioma cells in vitro and in vivo
CRR Rocha, CCM Garcia, DB Vieira, A Quinet, LC de Andrade-Lima, ...
Cell death & disease 5 (10), e1505, 2014
482014
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