Marcia Gonçalves Ribeiro MD, MSc, PhD
Positions and Honors 
- Full Professor of Pediatrics Department from the Faculty of Medicine at the UFRJ
- PhD degree in Biological Sciences, area of concentration in Genetics from UFRJ (2003)
- Master’s degree (MSc) in Medicine, area of concentration in Pediatrics from UFRJ (1994)
- Professor of Maternal and Child Health and Internal Medicine Postgraduate Programs – Federal University of Rio de Janeiro (UFRJ)
- Head of the Medical Genetics Service at IPPMG-UFRJ
- Board certified in Pediatrics – Brazilian Society of Pediatrics (SBP) and Brazilian Medical Association (AMB)
- Board certified in Medical Genetics – Brazilian Society of Medical Genetics, Brazilian Medical Association and Federal Council of Medicine
- Research Productivity Scholarship Level 2 (2012-2014)
- Young Scientist at Our State at FAPERJ 2008
- Specialist at the National Network of Advanced Therapies (RENETA), Carlos Chagas Filho Institute of Biophysics/UFRJ
- ANVISA- United Nations Program for Development since 2021
Main research areas:
- Epidemiological and clinical studies of genetic diseases in childhood and adolescence
Main publications
1. HOROVITZ, DAFNE D G ; RIBEIRO, MÁRCIA G ; ACOSTA, ANGELINA X ; MONTEIRO, ANA C ; BOTHA, JACO ; GIUGLIANI, ROBERTO . Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey. Journal of Inborn Errors of Metabolism and Screening, v. 11, p. e20230002, 2023.
2. MONTENEGRO, YORRAN HARDMAN ARAÚJO; SOUZA, CAROLINA FISCHINGER MOURA ; KUBASKI, FRANCYNE ; TRAPP, FRANCIELE BARBOSA; BURIN, MAIRA GRAEFF; MICHELIN’TIRELLI, KRISTIANE; LEISTNER’SEGAL, SANDRA; FACCHIN, ANA CAROLINA BRUSIUS; MEDEIROS, FERNANDA S.; GIUGLIANI, LUCIANA ; RIBEIRO, ERLANE MARQUES ; LOURENÇO, CHARLES MARQUES ; CARDOSO’DOS’SANTOS, AUGUSTO CÉSAR ; RIBEIRO, MÁRCIA GONÇALVES ; KIM, CHONG AE; CASTRO, MATHEUS AUGUSTO ARAÚJO ; EMBIRUÇU, EMÍLIA KATIANE; STEINER, CARLOS EDUARDO; MOREIRA, MARIA LUCIA CASTRO; MONTANO, HECTOR QUINTERO . Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 188, p. 760-767, 2022.
3. DE CASTRO, CAROLINA MONTEIRO LEITE ; PEREIRA, CAROLINA OLIVETO BASTOS ; APRIGIO, JOISSY ; COSTA LIMA, MARCELO A. ; RIBEIRO, MÁRCIA G. ; AMORIM, MÁRCIA RODRIGUES . Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion. Human Cell, v. 1, p. 1, 2022.SANT’ANA, IARA ; TORRINI, RENATO ; ALVES COELHO, MARIA CAROLINE ; CANTONI, JOYCE ; MADEIRA, MIGUEL ; RIBEIRO, MÁRCIA . X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro. MOLECULAR GENETICS & GENOMIC MEDICINE, v. 10, p. 00:e1941, 2022.
4. Freitas, M.O. ; SANTOS, A.O. DOS ; BARBOSA, L.S. ; FIGUEIREDO, A.F. DE ; PELLEGRINI, S.P. ; SANTOS, N.C.K. ; PAIVA, I.S. ; RANGEL-POZZO, A. ; SISDELLI, L. ; MAI, S. ; LAND, M.G.P. ; RIBEIRO, M.G. ; Ribeiro, M.C.M. . Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father. Brazilian Journal of Medical and Biological Research (on line), v. 55, p. e12072, 2022.
5. APRIGIO, JOISSY ; DE CASTRO, CAROLINA M. L. ; LIMA, MARCELO A. COSTA ; RIBEIRO, MÁRCIA G. ; ORIOLI, IÊDA M. ; AMORIM, MÁRCIA R. . Mothers of children with Down syndrome: a clinical and epidemiological study. JOURNAL OF COMMUNITY GENETICS, v. 1, p. 1-7, 2022.
6. OLIVEIRA, LISA BRAUER ; GELLER, Mauro ; CUNHA, KARIN SOARES ; SANTOS, ALESSANDRA ; BERNACCHI, ALLAN ; RUBENSTEIN, ALLAN E. ; TAKIRAMBUDDE, SANYU ; MEZITIS, SPYROS ; DE ALMEIDA ITO BRUM, CAROLINA ; DARRIGO, LUIZ GUILHERME ; RIBEIRO, MARCIA GONÇALVES . Clinical assessment of the use of topical liquid diclofenac following laser microporation of cutaneous neurofibromas in individuals with neurofibromatosis type 1. HELIYON, v. 7, p. e06518, 2021