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DGM - Artigos publicados em periódicos especializados arbitrados
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Faculdade de Ciências Médicas
Departamento de Genética Médica
Produções / Artigos publicados em periódicos
Artigos publicados em periódicos especializados arbitrados
Circulação Internacional
1.
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SCHEEL, GL; PAULI, ED; RAKOCEVIC, M; BRUNS, R.E.; SCARMINIO, IS; Environmental stress evaluation of Coffea arabica L. leaves from spectrophotometric fingerprints by PCA and OSC-PLS-DA, 12/2019, Arabian Journal of Chemistry,Vol. 12, Fac. 8, pp.4251-4257, Riyadh, Arábia Saudita, 2019 *
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2.
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PELUZZO, T. M.; BONADIA, L. C.; DONATTI, A.; MOLCK, M. C.; JARDIM, Laura B.; MARQUES, W.C.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience, 12/2019, Cerebellum (London. Print),Vol. 18, Fac. 6, pp.1143-1146, New York, NY, Estados Unidos da América, 2019 *
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3.
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CRUZ, P. R. S.; HAKONARSON, H.; COSTA, Fernando Ferreira; BARBOSA DE MELO, Monica; ANANINA, G.; LOPES, V L G S; SIMIONI, Milena; MENAA, F.; BEZERRA, M. A. C.; DOMINGOS, Igor; ARAUJO, Aderson; PELLEGRINO, Renata; ANANINA, Galina Ananina; Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence, 12/2019, Scientific Reports,Vol. 9, Fac. 1, pp.490-495, Londres, Reino Unido, 2019 *
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4.
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N. DE OLIVEIRA, D.; SOUZA, G. F.; VIEIRA, A.; A. SILVA, ; BATISTA, R. F.; DORIQUI, M.J.R.; SANTANA DE SOUSA, Patricia; MILANEZ, G. P.; PROENCA-MODENA, J. L.; CAVALCANTI, D P; CATHARINO, R. R.; LIMA, E. O.; MELO, C. F. O. R.; DELAFIORI, J.; GUERREIRO, T. M.; RODRIGUES, R. G. M.; KAREN NODA MORISHITA, ; SILVEIRA, C.; MURARO, S. P.; Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development, 12/2019, Scientific Reports,Vol. 9, Fac. 1, pp.167-167, Londres, Reino Unido, 2019 *
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5.
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COOLS, Coos, M; WERNER, R; HIORT, Olaf; MELLO, M.P.; MACIEL-GUERRA, AT; Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis, 12/2019, Sexual Development,Basel, Suiça, 2019
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6.
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VISENTAINER, L.; STEINER, C. E.; CINTRA, Maria Leticia; SOUZA, Elemir Macedo de; Epidermolysis Bullosa Pruriginosa, 12/2019, The American Journal of Dermatopathology (Print),pp.1-3, Philadelphia, Estados Unidos da América, 2019
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7.
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LJUBICIC, M.L.; ANDRADE, J. G. R.; BALSAMO, A.; BERTELLONI, S.; COOLS, Coos, M; TADOKORO CUCCARO, R.; DARENDELILER, F.; GRINSPON, R.P.; MACIEL-GUERRA, AT; GURAN, T.; HANNEMA, S.; HIORT, Olaf; M. HOLTERHUS, P.; LICHIARDOPOL, C.; LOOIJENGA, L.H.J.; ORTOLANO, R.; RIEDI, S.; F. AHMED, S.; JUUL, A.; Response to Letter to the Editor: “Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis”, 12/2019, The Journal of Clinical Endocrinology and Metabolism,Vol. 104, Fac. 12, pp.5812-5813, Baltimore, Estados Unidos da América, 2019 *
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8.
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SOUZA, L. C. F.; DOS SANTOS, A.P.; SGARDIOLI, I. C.; VIGUETTI CAMPOS, Nilma Lúcia; PROTTA, J. R. M.; OLIVEIRA SOBRINHO, R. P.; VIEIRA, T. A. P.; LOPES, V L G S; Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances, 11/2019, Journal of Intellectual Disability Research,Vol. 63, Fac. 11, pp.1379-1389, Chichester, West Sussex, Reino Unido, 2019
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9.
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MÁXIMO, R. O.; SANTOS, J. L. F.; PERRACINI, Monica Rodrigues; OLIVEIRA, C. de; DUARTE, Y. A. O.; ALEXANDRE, T. S.; Abdominal obesity, dynapenia and dynapenic-abdominal obesity as factors associated with falls, 11/2019, Revista Brasileira de Fisioterapia (Impresso),Vol. 23, Fac. 6, pp.497-505, São Carlos, SP, Brasil, 2019
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10.
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LOPES, V L G S; Obituary: Antonio Richieri Costa (1946-2019), 10/2019, American Journal of Medical Genetics. Part A,Vol. 179, Fac. 11, pp.2169-2169, Hoboken, Estados Unidos da América, 2019
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11.
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CORACIARA PEQUENO, Daniel; CARRON, J.; GASPAR, K. C.; LIMA, C. S. P.; LOURENCO, G. J.; Cytokine genetic variations and worse quality of life among family caregivers of head and neck cancer patients in palliative care, 10/2019, Annals of Oncology,Vol. 30, Fac., pp.1-2, Dordrecht, Holanda, 2019 *
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12.
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CARVALHO, B. C. F.; GOMEZ, G. V. B.; LOURENCO, G. J.; MORAES, A.; LIMA, C. S. P.; Variants in the JAK1 and JAK2 genes in the risk and prognosis of patients with cutaneous melanoma, 10/2019, Annals of Oncology,Vol. 30, pp.14-14, Dordrecht, Holanda, 2019 *
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13.
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CARVALHO, L. S. F.; BOGNIOTTI, L.A.; OSORIO L. R. DE ALMEIDA, ; QUINAGLIA E SILVA, J. C. Quinaglia e Silva; NADRUZ JUNIOR, W.; COELHO, Otávio Rizzi; SPOSITO, Andrei C.; BRASILIA, H.; Change of BNP between admission and discharge after ST-elevation myocardial infarction (Killip I) improves risk prediction of heart failure, death, and recurrent myocardial infarction compared to single isolated measurement in addition to the GRACE score, 10/2019, Cardiovascular Diabetology (Online),Vol. 8, Fac. 7, pp.643-651, London, Reino Unido, 2019
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14.
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AKCIMEN, F.; MARTINS, S.; BOURASSA, C.V.; LIAO, C.; LIMA, M.; LOPES CENDES, I; JARDIM, Laura B.; SEQUEIROS, Jorge; DION, P.A.; ROULEAU, Guy A.; Identification of genetic factors that modify age at onset of spinocerebellar ataxia type 3, 10/2019, European Journal of Human Genetics,Vol. 27, Fac., pp.1465-1466, Basingstoke, Reino Unido, 2019
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15.
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FORMENTIN, C.; ANDRADE, E. J.; MATIAS, L. G.; JOAQUIM, A. F.; TEDESCHI, H.; RAPOSO-AMARAL, Cassio Eduardo; GHIZONI, E.; Using the keystone design perforator island flap in large myelomeningocele closure, 10/2019, Neurosurgical Focus,Vol. 47, Fac. 4, pp.1-9, Charlottesville, Estados Unidos da América, 2019
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16.
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LJUBICIC, M.L.; JORGENSEN, A.; ACERINI, C.; ANDRADE, Juliana; BALSAMO, A.; BERTELLONI, S.; COOLS, Coos, M; TADOKORO CUCCARO, R.; DARENDELILER, F.; FLUECK, C.E.; GRINSPON, R.P.; MACIEL-GUERRA, AT; GURAN, T.; HANNEMA, S.; HERALD, A.L.; HIORT, Olaf; M. HOLTERHUS, P.; LICHIARDOPOL, C.; LOOIJENGA, L.H.J.; ORTOLANO, R.; RIEDI, S.; F. AHMED, S.; JUUL, A.; Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis, 10/2019, The Journal of Clinical Endocrinology and Metabolism,Vol. 104, Fac. 10, pp.4366-4381, Baltimore, Estados Unidos da América, 2019
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17.
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FABBRI, H. C.; MACIEL-GUERRA, AT; GUERRA-JUNIOR, Gil; Mutation update for the NR5A1 gene involved in DSD and infertility, 09/2019, Human Mutation,Vol. 41, Fac. 1, pp.58-68, New York, Estados Unidos da América, 2019 *
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18.
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VENCATTO, R. W.; RAMALHO, S. O. B.; MARSOM, F. A. L.; REZENDE, L. M.; PEREIRA, S. V.; BONADIA, L. C.; LIMA, C. S. P.; BERTUZZO, C S; ABCB1 variants (C1236T, rs1128503 and G2677T/A, rs2032582) do not show an association with recurrence and survival in patients with breast cancer undergoing anthracycline-based chemotherapy, 09/2019, Meta Gene,Vol. 21, pp.100596-100598, Amsterdam, Holanda, 2019 *
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19.
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SPERB-LUDWIG, Fernanda; CABRAL PINHEIRO, Franciele; BETTIO SOARES, Malu; NALIN, Tatiele; RIBEIRO, E M; STEINER, C. E.; VALADARES, E. R.; PORTA, Gilda; MOURA DE SOUZA, Carolina Fishinger; DOEDERLEIN SCHWARTZ, Ida Vanessa; Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients, 09/2019, Molecular Genetics & Genomic Medicine,Vol. 18, Fac. 4, pp.277-287, Chichester, West Sussex, Reino Unido, 2019
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20.
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SECOLIN, R.; MAS-SANDOVAL, A.; ARAUNA, L.R.; TORRES, F. R.; ARAUJO, T. K.; SILVA, MS; ROCHA, C. S.; CARVALHO, B. S.; CENDES, Fernando; LOPES CENDES, I; COMAS, D.; Distribution of local ancestry and evidence of adaptation in admixed populations, 09/2019, Scientific Reports,Vol. 9, Fac., pp.1-13, Londres, Reino Unido, 2019 *
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21.
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CLEMENTE, Z; SILVA, GH; NUNES, M. C. S.; MARTINEZ, D. S. T.; MAURER-MORELLI, C. V.; THOMAZ, A. A.; CASTRO, Vera Lucia Scherholz Salgado; Exploring the mechanisms of graphene oxide behavioral and morphological changes in zebrafish, 08/2019, Environmental Science and Pollution Research International,Vol. 29, Fac. 6, pp.652-668, Heidelberg, Alemanha, 2019
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22.
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SECOLIN, R.; LOPES CENDES, I; New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies, 08/2019, Epilepsy & Behavior (Print),pp.106428-106438, San Diego, CA, Estados Unidos da América, 2019
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23.
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SIQUEIRA, G. Q. C.; ANANINA, G.; SOUZA, B. B.; BORGES, M G; ITO, M.; SILVA-COSTA, S M; DOMINGOS, Igor; FALCAO, D.A.; LOPES CENDES, I; C. BEZERRA, Marcos André; ARAUJO, Aderson; LUCENA-ARAUJO, A.R.; GONCALVES, Marilda de Souza; SAAD, Sara T. Olalla; COSTA, Fernando Ferreira; BARBOSA DE MELO, Monica; Highlight article: Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients, 08/2019, Experimental Biology and Medicine (Maywood, N.J.: Print),Vol. 244, Fac. 11, pp.932-939, Maywood, Estados Unidos da América, 2019 *
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24.
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AZEVEDO, F. F.; MOREIRA, G.V.; TEIXEIRA, C.J.; PESSOA, A. F. M.; ALVES, M. J.; LIBERTI, E.A.; CARVALHO, Carla Roberta de Oli; ARAUJO, E. P.; SAAD, Mário José Abdalla; LIMA, M. H. M.; Topical Insulin Modulates Inflammatory and Proliferative Phases of Burn-Wound Healing in Diabetes-Induced Rats, 07/2019, Biological Research for Nursing,Vol. 1, pp.1-13, Thousand Oaks, CA, Estados Unidos da América, 2019 *
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25.
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SILVA, Klycia Fidelis Cerqueira e Sil; CARVALHO, A. G. S.; RENATA S. RABELO, ; HUBINGER, Míriam Dupas; Sacha inchi oil encapsulation: Emulsion and alginate beads characterization, 07/2019, Food and Bioproducts Processing,Vol. 116, pp.118-129, Warks, Reino Unido, 2019
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26.
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GONÇALVES, A. C.; MARSOM, F. A. L.; MENDONÇA, R. M. H.; BERTUZZO, C S; PASCHOAL, Ilma Aparecida; RIBEIRO, José Dirceu; RIBEIRO, Antonio Fernando; LEVY, Carlos Emílio; Chloride and sodium ion concentrations in saliva and sweat as a method to diagnose cystic fibrosis, 07/2019, Jornal de Pediatria (Impresso),Vol. 95, Fac. 4, pp.443-450, Rio de Janeiro, RJ, Brasil, 2019 *
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27.
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MAGNA, L A; Development and application of Reverse Systematic Review on laparoscopic radical prostatectomy, 07/2019, Urologic Oncology,Vol. 37, pp.647-658, New York, Estados Unidos da América, 2019
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28.
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LOPES, V L G S; IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate, 06/2019, Brazilian Journal of Otorhinolaryngology (Impresso),São Paulo, SP, Brasil, 2019
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29.
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DE SOUZA EL BECK, Mayra; VIGUETTI CAMPOS, Nilma Lúcia; VIEIRA, T. A. P.; LEMOS-MARINI, Sofia Helena Valente; MARQUES DE FARIA, A P; PAIVA E SILVA, Roberto Benedito de; DE MELLO, Maricilda Palandi; MACIEL-GUERRA, AT; GUERRA-JUNIOR, Gil; GERMANO, C. W.; BARROS, B. A.; ANDRADE, J. G. R.; PAULA, G. B.; MIRANDA, M. L.; SANCHES GUARAGNA, Mara; SCALLET, H. F.; MAZZOLA, T. N.; Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service, 06/2019, Jornal de Pediatria (Impresso),Vol. 1, pp.1-4, Rio de Janeiro, RJ, Brasil, 2019 *
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30.
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GIUGLIANI, Luciana; STEINER, C. E.; KIM, C A; LOURENÇO, C M; SCHMITZ FERREIRA SA, Mara Lucia; MOURA DE SOUZA, Carolina Fischinger; BRUSIUS-FACCHIN, Ana Carolina; BALDO, Guilherme; RIEGEL, M.; GIUGLIANI, R.; Clinical findings in Brazilian patients with adult GM1 gangliosidosis, 06/2019, Journal of Scientific Research and Reports,Vol. 1, pp.1-11, Wilmington, Estados Unidos da América, 2019
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31.
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SGARDIOLI, I. C.; MONTEIRO, F. P. M.; FANTI OLIVEIRA, Paulo; VIEIRA, T. A. P.; LOPES, V L G S; Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health, 06/2019, Orphanet Journal of Rare Disease,Vol. 14, pp.1-9, London, Reino Unido, 2019
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32.
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SIQUEIRA, G. Q. C.; ANANINA, Galina Ananina; SOUZA, B. B.; BORGES, M. G.; ITO, M. T.; COSTA, S. M. S.; DOMINGOS, Igor; FALCAO, D.A.; LOPES CENDES, I; BEZERRA, M. A. C.; ADERSON ARAUJO, ; LUCENA-ARAUJO, A.R.; GONCALVES, Marilda de Souza; SAAD, Sara T. Olalla; COSTA, Fernando Ferreira; BARBOSA DE MELO, Monica; Whole-exome sequencing indicates FLG 2 variant associated with leg ulcers in Brazilian sickle cell anemia patients, 05/2019, Experimental Biology and Medicine (Maywood, N.J.: Print),Vol. 134, pp.1-8, Maywood, Estados Unidos da América, 2019 *
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33.
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FERREIRA, L E; SECOLIN, R.; LOPES CENDES, I; CABRAL, Norberto Luiz; FRANÇA, P H C; Association and interaction of genetic variants with occurrence of ischemic stroke among Brazilian patients, 05/2019, Gene (Amsterdam),Vol. 695, Fac., pp.84-91, Medison, Estados Unidos da América, 2019
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34.
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PERES, R. M. R.; CARVALHO, B. S.; ANURAG, Meenakshi; LEI, J.T.; CONZ, L.; GONÇALVES, Rodrigo; CARDOSO FILHO, C.; RAMALHO, S.; DE PAIVA, G R P; DERCHAIN, S.F.; LOPES CENDES, I; ELLIS, Matthew J C; SARIAN, L. O. Z.; Copy number alterations associated with clinical features in an underrepresented population with breast cancer, 05/2019, Molecular Genetics & Genomic Medicine,Vol. 7, Fac. 7, pp.1-11, Chichester, West Sussex, Reino Unido, 2019 *
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35.
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CAMPOS, LW; ZENATTI, PP; PISSINATO, L. G.; RODRIGUES, GOL; ARTICO, LL; RAFAEL GUIMARÃES, Thais; ARCHANGELO, L. F.; MARTINEZ, L.; BROOKS, AJ; YUNES, José Andres; Oncogenic basic amino acid insertions at the extracellular juxtamembrane region of IL7RA cause receptor hypersensitivity, 03/2019, Blood (Philadelphia, PA),Vol. 133, Fac. 11, pp.1259-1263, Washington, Estados Unidos da América, 2019 *
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36.
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REZENDE, T. J. R.; MARTINEZ, A. R. M.; VASCONCELLOS, I. F.; GIROTTO, K A; MARTINS, M. P.; LIMA, F. D.; LOPES CENDES, I; CENDES, Fernando; FRANCA JUNIOR, M. C.; Developmental and neurodegenerative damage in Friedreich's ataxia, 03/2019, European Journal of Neurology (Print),Vol. 26, Fac. 3, pp.483-489, Oxford, Reino Unido, 2019 *
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37.
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GONSALES, M. C.; MONTENEGRO, M. A. S.; ROCHA, P. M. P.; GUERREIRO, Marilisa Mantovani; COAN, A. C.; QUAST, Mônica P.; CARVALHO, B. S.; LOPES CENDES, I; Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome, 03/2019, Molecular Genetics & Genomic Medicine,Vol. 10, pp.1-10, Chichester, West Sussex, Reino Unido, 2019 *
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38.
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MOTA, M. V. B.; ZAIDAN, B. C.; CANTO, A. M.; GHIZONI, E.; TEDESCHI, H.; QUEIROZ, Luciano de Souza; ALVIM, M. K. M.; CENDES, Fernando; LOPES CENDES, I; SCHENKA, A. A.; VIEIRA, A. S.; ROGERIO, F.; ATP Synthase Subunit Beta Immunostaining is Reduced in the Sclerotic Hippocampus of Epilepsy Patients, 01/2019, Cellular and Molecular Neurobiology,Vol. 39, Fac. 1, pp.149-160, New York, Estados Unidos da América, 2019 *
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39.
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M M, Oliveira; DI-BATTISTA, Adriana; ZAMARIOLLI, Malú; AYRES MELONI, Vera; BRAGAGNOLO, Silvia; CHRISTOFOLINI, D N; STEINER, C. E.; KOSYAKOVA, Nadezda; LIEHR, Thomas; REYMOND, Alexandre; MELARAGNO, M I S A; Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical pheno tyes, 01/2019, European Journal of Human Genetics,Vol. 1, pp.1-6, Basingstoke, Reino Unido, 2019
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40.
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M M, Oliveira; DI-BATTISTA, Adriana; ZAMARIOLLI, Malú; AYRES MELONI, Vera; BRAGAGNOLO, Silvia; CHRISTOFOLINI, D N; STEINER, C. E.; KOSYAKOVA, Nadezda; LIEHR, Thomas; REYMOND, Alexandre; MELARAGNO, M I S A; Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes, 01/2019, European Journal of Human Genetics,Vol. 49, pp.995-1001, Basingstoke, Reino Unido, 2019
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41.
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ROVERSI, F. M.; CURY, Nathalia; LOPES, M. R.; FERRO, K. P. V.; MACHADO NETO, J. A.; PRAX, M. C. A.; SANTOS, G. P.; ROSA, R. G.; LONGHINI, A. L. F.; DUARTE, ADRIANA DA SILVA S; SOUZA, F. V. P.; FAVARO, P. M. B.; YUNES, José Andres; SAAD, Sara T. Olalla; Up-regulation of SPINT2/HAI-2 by Azacytidine in bone marrow mesenchymal stromal cells affects leukemic stem cell survival and adhesion, 01/2019, Journal of Cellular and Molecular Medicine (Online),Vol. 23, Fac. 2, pp.1562-1571, Sussex, Reino Unido, 2019 *
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42.
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BERTAPELLI, F.; CURTIS, J.S.; CARLSON, Brett; JOHNSON, M; ABADIE, B.; AGIOVLASITIS, S; Step-counting accuracy of activity monitors in persons with Down syndrome, 01/2019, Journal of Intellectual Disability Research,Vol. 63, Fac. 1, pp.21-30, Chichester, West Sussex, Reino Unido, 2019
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43.
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DARRIGO JUNIOR, L.G.; LIRA, Régia C. P.; FEDELHO, P.F.; ANTONIO,, D.; TERCI VALERA, Elvis; AGUIAR, S.; YUNES, José Andres; BRANDALISE, Silvia Regina; NEDER, L; SAGGIORO, FP; BECKER, A.P.; OLIVEIRA, R. S.; MACHADO, H. R.; PANEPUCCI, Rodrigo Alexandre; TONE, Luiz Gonzaga; SCRIDELLI, Carlos Alberto; MicroRNA profile of pediatric pilocytic astrocytomas identifies two tumor-specific signatures when compared to non-neoplastic white matter, 01/2019, Journal of Neuro-Oncology,Vol. 141, Fac. 2, pp.373-382, New York, NY, Estados Unidos da América, 2019 *
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44.
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SECOLIN, R.; MAS-SANDOVAL, A.; ARAUNA, L.R.; TORRES, F. R.; ARAUJO, T. K.; SANTOS, M. L.; ROCHA, C. S.; CARVALHO, B. S.; CENDES, Fernando; LOPES CENDES, I; COMAS, D.; Distribution of local ancestry and evidence of adaptation in admixed populations, 01/2019, Scientific Reports,Vol. 9, pp.1-12, Londres, Reino Unido, 2019 *
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* Esta produção está associada também a outros órgãos
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