Spremljaj
Maria Rita Passos-Bueno
Maria Rita Passos-Bueno
Departamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo
Preverjeni e-poštni naslov na ib.usp.br
Naslov
Navedeno
Navedeno
Leto
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
17472020
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
I Richard, O Broux, V Allamand, F Fougerousse, N Chiannilkulchai, ...
Cell 81 (1), 27-40, 1995
11741995
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
R Bashir, S Britton, T Strachan, S Keers, E Vafiadaki, M Lako, I Richard, ...
Nature genetics 20 (1), 37-42, 1998
7991998
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
V Nigro, ES Moreira, G Piluso, M Vainzof, A Belsito, L Politano, AA Puca, ...
Nature genetics 14 (2), 195-198, 1996
5481996
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
4562021
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
ES Moreira, TJ Wiltshire, G Faulkner, A Nilforoushan, M Vainzof, ...
Nature genetics 24 (2), 163-166, 2000
4272000
Clinical spectrum of fibroblast growth factor receptor mutations
MR Passos‐Bueno, WR Wilcox, EW Jabs, AL Sertie, LG Alonso, H Kitoh
Human mutation 14 (2), 115-125, 1999
3701999
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3422021
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure …
AL Sertié, V Sossi, AMA Camargo, M Zatz, C Brahe, MR Passos-Bueno
Human molecular genetics 9 (13), 2051-2058, 2000
3192000
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ...
The American Journal of Human Genetics 80 (6), 1162-1170, 2007
2942007
Caveolin-3 in muscular dystrophy
EM McNally, E de Sá Moreira, DJ Duggan, CG Bönnemann, MP Lisanti, ...
Human molecular genetics 7 (5), 871-877, 1998
2881998
Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells
A de Mendonça Costa, DF Bueno, MT Martins, I Kerkis, A Kerkis, ...
Journal of Craniofacial Surgery 19 (1), 204-210, 2008
2712008
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
2582015
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
2362017
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
M Vainzof, MR Passos-Bueno, M Canovas, ES Moreira, RCM Pavanello, ...
Human molecular genetics 5 (12), 1963-1969, 1996
2281996
Stem cell proliferation under low intensity laser irradiation: a preliminary study
FP Eduardo, DF Bueno, PM de Freitas, MM Marques, MR Passos‐Bueno, ...
Lasers in Surgery and Medicine: The Official Journal of the American Society …, 2008
2242008
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
2162015
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
EM McNally, MR Passos-Bueno, CG Bönnemann, M Vainzof, ...
American journal of human genetics 59 (5), 1040, 1996
2121996
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ...
Nature genetics 54 (9), 1320-1331, 2022
2082022
Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy
M Zatz, D Rapaport, M Vainzof, MR Passos-Bueno, ER Bortolini, ...
Journal of the neurological sciences 102 (2), 190-196, 1991
1991991
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