Mariana Moyses-Oliveira
Mariana Moyses-Oliveira
Massachusetts General Hospital
E-mail confirmado em mgh.harvard.edu
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Ano
X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations
M Moysés‐Oliveira, RS Guilherme, VA Meloni, A Di Battista, CB de Mello, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015
372015
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations
M Moysés-Oliveira, R dos Santos Guilherme, AG Dantas, R Ueta, ...
Fertility and sterility 103 (5), 1289-1296. e2, 2015
192015
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
M Moyses-Oliveira, R Yadav, S Erdin, ME Talkowski
Current opinion in genetics & development 65, 195-206, 2020
132020
Position effect modifying gene expression in a patient with ring chromosome 14
RS Guilherme, M Moysés-Oliveira, AG Dantas, VA Meloni, ME Colovati, ...
Journal of applied genetics 57 (2), 183-187, 2016
132016
Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements
L Sisdelli, AC Vidi, M Moyses-Oliveira, A Di Battista, A Bortolai, ...
Human genetics 135 (2), 185-192, 2016
132016
19q13. 33→ qter trisomy in a girl with intellectual impairment and seizures
G Carvalheira, MM Oliveira, S Takeno, FT de Lima, VA Meloni, ...
Meta gene 2, 799-806, 2014
102014
Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion
MP Migliavacca, NLM Sobreira, GPM Antonialli, MM Oliveira, ...
American journal of medical genetics Part A 164 (5), 1170-1174, 2014
102014
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
M Moysés-Oliveira, A Di-Battista, M Zamariolli, VA Meloni, S Bragagnolo, ...
European journal of human genetics 27 (5), 760-771, 2019
82019
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations
M Moysés‐Oliveira, G Giannuzzi, RJ Fish, JA Rosenfeld, F Petit, ...
Human mutation 39 (2), 281-291, 2018
82018
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement
DM Christofolini, VA Meloni, MA de Paula Ramos, MM Oliveira, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012
72012
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene
G Carvalheira, AM Malinverni, M Moysés-Oliveira, R Ueta, L Cardili, ...
Journal of the Endocrine Society 3 (11), 2107-2113, 2019
62019
Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
M Zamariolli, M Colovati, M Moysés‐Oliveira, N Nunes, ...
Molecular genetics & genomic medicine 7 (10), e00959, 2019
52019
Search for appropriate reference genes for quantitative reverse transcription PCR studies in somite, prosencephalon and heart of early mouse embryo
M Moysés-Oliveira, V Cabral, CO Gigek, DC de Carvalho Correa, ...
Gene 710, 148-155, 2019
52019
Cytogenomic delineation and clinical follow‐up of two siblings with an 8.5 Mb 6q24. 2‐q25. 2 deletion inherited from a paternal insertion
VA Meloni, RS Guilherme, MM Oliveira, M Migliavacca, SS Takeno, ...
American Journal of Medical Genetics Part A 164 (9), 2378-2384, 2014
52014
Genetics of premature ovarian insufficiency and the association with X-autosome translocations
A Di-Battista, M Moysés-Oliveira, MI Melaragno
Reproduction 160 (4), R55-R64, 2020
42020
22q11. 2 deletion syndrome due to a translocation t (6; 22) in a patient conceived via in vitro fertilization
AG Dantas, A Bortolai, M Moysés-Oliveira, ST Herrero, AA Antunes, ...
Molecular syndromology 6 (5), 242-247, 2015
42015
Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy
ARN Dutra, TI Mancini, SS Takeno, MM Oliveira, CA Kim, ABA Perez, ...
Cytogenetic and genome research 138 (1), 1-4, 2012
42012
Interstitial 4q deletion and isodicentric Y-chromosome in a patient with dysmorphic features
TI Mancini, MM Oliveira, ARN Dutra, ABA Perez, RM Minillo, SS Takeno, ...
Molecular syndromology 3 (1), 39-43, 2012
42012
Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations
M Moyses-Oliveira, R Fish, G Giannuzzi, E Karaca, Z Akdemir, F Petit, ...
Molecular Cytogenetics, 2017
32017
Unusual X‐chromosome inactivation pattern in patients with Xp11. 23‐p11. 22 duplication: Report and review
A Di‐Battista, VA Meloni, MD da Silva, M Moysés‐Oliveira, MI Melaragno
American Journal of Medical Genetics Part A 170 (12), 3271-3275, 2016
22016
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