Folgen
Maria Rita Passos-Bueno
Maria Rita Passos-Bueno
Departamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo
Bestätigte E-Mail-Adresse bei ib.usp.br
Titel
Zitiert von
Zitiert von
Jahr
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
11512020
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
11171995
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
7781998
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
5371996
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
4082000
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
3591999
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
2972000
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
2761998
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
2642007
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
2582008
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
2392021
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
2212015
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
2201996
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
2062008
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
2031996
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
1972017
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
1932015
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
1811991
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
1802021
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations
MR Passos-Bueno, AL Sertié, FS Jehee, R Fanganiello, E Yeh
Craniofacial Sutures 12, 107-143, 2008
1732008
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20