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Maria Isabel Melaragno
Maria Isabel Melaragno
E-mail confirmado em epm.br
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Mechanisms of ring chromosome formation, ring instability and clinical consequences
RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ...
BMC medical genetics 12, 1-7, 2011
1442011
Homozygous and compound heterozygous mutations at the Werner syndrome locus
J Oshima, CE Yu, C Piussan, G Klein, J Jabkowski, S Balci, T Miki, ...
Human molecular genetics 5 (12), 1909-1913, 1996
1211996
Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma
B Bianco, MVN Lipay, MI Melaragno, AD Guedes, ITN Verreschi
Journal of Pediatric Endocrinology and Metabolism 19 (9), 1113-1118, 2006
962006
Ring chromosome instability evaluation in six patients with autosomal rings
CP Sodré, RS Guilherme, VF Meloni, D Brunoni, Y Juliano, JA Andrade, ...
Genet Mol Res 9 (1), 134-143, 2010
822010
Homozygosity mapping of the Werner syndrome locus (WRN)
J Nakura, EM Wijsman, T Miki, K Kamino, CE Yu, J Oshima, K Fukuchi, ...
Genomics 23 (3), 600-608, 1994
771994
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
N Sobreira, M Brucato, L Zhang, C Ladd-Acosta, C Ongaco, J Romm, ...
European Journal of Human Genetics 25 (12), 1335-1344, 2017
592017
Clinical and cytogenomic findings in OAV spectrum
S Bragagnolo, MES Colovati, MZ Souza, AG Dantas, MF F de Soares, ...
American journal of medical genetics Part A 176 (3), 638-648, 2018
542018
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
522015
Mechanisms of structural chromosomal rearrangement formation
B Burssed, M Zamariolli, FT Bellucco, MI Melaragno
Molecular Cytogenetics 15 (1), 23, 2022
442022
A novel de novo mutation in MYT1, the unique OAVS gene identified so far
M Berenguer, A Tingaud-Sequeira, M Colovati, MI Melaragno, ...
European Journal of Human Genetics 25 (9), 1083-1086, 2017
442017
DRD1 rs4532 polymorphism: a potential pharmacogenomic marker for treatment response to antipsychotic drugs
VK Ota, LN Spíndola, A Gadelha, AF dos Santos Filho, ML Santoro, ...
Schizophrenia research 142 (1-3), 206-208, 2012
442012
Complex small supernumerary marker chromosomes–an update
T Liehr, S Cirkovic, T Lalic, M Guc-Scekic, C de Almeida, J Weimer, ...
Molecular Cytogenetics 6, 1-6, 2013
422013
Duplication 9p and their implication to phenotype
RS Guilherme, VA Meloni, ABA Perez, AL Pilla, MAP de Ramos, ...
BMC Medical Genetics 15, 1-8, 2014
402014
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease.
MI Melaragno, D Brunoni, FR Patricio, M Corbani, Z Mustacchi, ...
Annales De Genetique 35 (2), 79-84, 1992
381992
Investigating 22q11. 2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography
FTS Bellucco, SIN Belangero, LMS Farah, MVL Machado, AP Cruz, ...
Pediatric cardiology 31, 1146-1150, 2010
372010
Catechol-O-methyltransferase (COMT) polymorphisms modulate working memory in individuals with schizophrenia and healthy controls
CT Matsuzaka, D Christofolini, VK Ota, A Gadelha, AA Berberian, C Noto, ...
Brazilian Journal of Psychiatry 39, 302-308, 2017
362017
Investigation of the nucleolar organizer regions in Alzheimer's disease
SLM Pay&atildeo, SM de AC, MH Kormann-Bortolotto, J Toniolo
Gerontology 40 (1), 13-17, 2009
352009
Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes
LD Kulikowski, FTS Bellucco, SI Nogueira, DM Christofolini, MAC Smith, ...
American Journal of Medical Genetics Part A 146 (20), 2663-2667, 2008
332008
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
292015
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
282020
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Artigos 1–20