Maria Isabel De Souza Aranha Melaragno
Professor
Genetics
Universidade Federal de Sao Paulo
Brazil
Biography
Graduated in Biological Sciences Medical Mode (1978) by Escola Paulista de Medicina, Federal University of São Paulo (UNIFESP). Master's degree (1982) and PhD (1988) in Biological Sciences (Biology-Genetics) by the University of São Paulo (USP). Livre-Docente (2008) by the Federal University of São Paulo (UNIFESP). Since 2015 she has been a Full Professor at the Federal University of São Paulo.
Research Interest
He works in the area of ​​Human and Medical Genetics, mainly in the area of ​​Human Cytogenetics, classical and molecular. Reprinted in ad hoc CNPq, FAPESP and the American Journal of Medical Genetics, BMC Medical Genetics, Clinical Genetics, Clinics, Fertility and Sterility, Cytogenetics and Genome Research, GENE, Pediatrics International, J Pediatr Genetics, Molecular Cytogenetics, among others. Member of the Brazilian Society of Genetics, Brazilian Society of Medical Genetics, American Society of Human Genetics and European Society of Human Genetics.
Publications
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BERENGUER, MARIE; TINGAUD-SEQUEIRA, ANGELE; COLOVATI, MILENY; Melaragno, Maria I ; Bragagnolo, Silvia; Perez, Ana BA; ARVEILER, BENOIT; LACOMBE, DIDIER; ROORYCK, CAROLINE. A novel de novo mutation in MYT1, the unique OAVS gene identified so far. EUROPEAN JOURNAL OF HUMAN GENETICS , v. 25, p. 1083-1086, 2017.
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Bellucco, FTS ; SILVA, NRN; Colovati, MES; MALINVERNI, ACM; CANELOI, TP; SOARES, MFF; Perez, ABA; Melaragno, Maria Isabel . Miller-Dieker syndrome due to a 5.5 Mb 17p deletion from a 17-Y pseudodicentric chromosome. CYTOGENETIC AND GENOME RESEARCH , v. 152, p. 29-32, 2017.
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MALINVERNI, ACM; Colovati, Mileny ES; PEREZ, AB ; CANELOI, TP; de Oliveira Jr, HR; Kosyakova, N.; LIEHR, T.; HAMID, A.; MELARAGNO, MARIA ISABEL SA . Unusual Duplication in the Pericenteric Region of Chromosome 9 in a Patient with Phenotypic Alterations. CYTOGENETIC AND GENOME RESEARCH , v. 150, p. 100-105, 2017.
