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Centro de Estudos do Genoma Humano e Células-Tronco
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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
16482020
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
KC Kurek, VL Luks, UM Ayturk, AI Alomari, SJ Fishman, SA Spencer, ...
The American Journal of Human Genetics 90 (6), 1108-1115, 2012
5292012
DNA repair pathways and cisplatin resistance: an intimate relationship
CRR Rocha, MM Silva, A Quinet, JB Cabral-Neto, CFM Menck
Clinics 73, e478s, 2018
3922018
Sunlight damage to cellular DNA: Focus on oxidatively generated lesions
AP Schuch, NC Moreno, NJ Schuch, CFM Menck, CCM Garcia
Free Radical Biology and Medicine 107, 110-124, 2017
3902017
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
3202014
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ...
Nature genetics 45 (9), 1077-1082, 2013
3092013
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
2532015
DNA damage by singlet oxygen and cellular protective mechanisms
LF Agnez-Lima, JTA Melo, AE Silva, AHS Oliveira, ARS Timoteo, ...
Mutation Research/Reviews in Mutation Research 751 (1), 15-28, 2012
2382012
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
MS Naslavsky, GL Yamamoto, TF de Almeida, SAM Ezquina, DY Sunaga, ...
Human mutation 38 (7), 751-763, 2017
2292017
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
2152013
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), 1350-1365, 2015
2142015
Autophagy and genomic integrity
AT Vessoni, EC Filippi-Chiela, CFM Menck, G Lenz
Cell Death & Differentiation 20 (11), 1444-1454, 2013
1962013
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ...
The American Journal of Human Genetics 102 (1), 69-87, 2018
1922018
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
1922012
DNA repair diseases: What do they tell us about cancer and aging?
CFM Menck, V Munford
Genetics and Molecular Biology 37, 220-233, 2014
1852014
Combined effects of pericytes in the tumor microenvironment
AL Ribeiro, OK Okamoto
Stem cells international 2015, 2015
1822015
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
1722015
Autophagy in stem cell maintenance and differentiation
AT Vessoni, AR Muotri, OK Okamoto
Stem cells and development 21 (4), 513-520, 2012
1592012
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, 11-22, 2013
1582013
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
1572013
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