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Faculdade de Ciências Médicas
Departamento de Genética Médica
Produções / Artigos publicados em periódicos
Artigos publicados em periódicos especializados arbitrados
Circulação Nacional
1.
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BIAZOTTI, MCS; PINTO JUNIOR, Walter; FUJIHARA, L.S.; SUGANUMA, C.H.; BERTUZZO, C S; ALBUQUERQUE, M; REIGOTA, R. B.; Preimplantation genetic diagnosis for cystic fibrosis: a case report, 03/2015, Einstein (São Paulo),Vol. 13, Fac. 1, pp.110-113, São Paulo, SP, Brasil, 2015
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Circulação Internacional
1.
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GUERREIRO, Marilisa Mantovani; GONSALES, M. C.; MONTENEGRO, M. A. S.; SOLER, C. V.; COAN, A. C.; LOPES CENDES, I; Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice, 12/2015, Arquivos de Neuro-Psiquiatria (Impresso),Vol. 73, Fac. 11, pp.946-958, Sao Paulo, SP, Brasil, 2015 *
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2.
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FERNANDES, M.T.; GHEZZO, M.N.; B. SILVEIRA, Andre; KALATHUR, R.K.; POVOA, V M O; RIBEIRO, A.R.; BRANDALISE, Silvia Regina; DEJARDIN, E.; ALVES, N; GHYSDAEL, J.; TABORDA BARATA, JOÃO; YUNES, José Andres; SANTOS, N.R; Lymphotoxin-beta receptor in microenvironmental cells promotes the development of T-cell acute lymphoblastic leukaemia with cortical/mature immunophenotype, 12/2015, British Journal of Haematology (Print),Vol. 171, Fac. 5, pp.736-751, Oxford, Reino Unido, 2015 *
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3.
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SIMIONI, Milena; STEINER, C. E.; LOPES, V L G S; De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case, 11/2015, Gene (Amsterdam),Vol. 573, Fac. 1, pp.166-170, Medison, Estados Unidos da América, 2015
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4.
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DIAS, E. V.; SARTORI, C. R.; MARIÃO, P. R.; VIEIRA, A. S.; CAMARGO, L. C.; ATHIÉ, M. C. P.; PAGLIUSI JÚNIOR, M. O. F.; TAMBELI, CLÁUDIA HERRERA; PARADA, C. A.; SARTORI, C. R.; Nucleus accumbens dopaminergic neurotransmission switches its modulatory action in chronification of inflammatory hyperalgesia, 10/2015, European Journal of Neuroscience (Print),Vol. 42, Fac. 7, pp.2380-2389, Oxford, Reino Unido, 2015 *
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5.
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SCHERRER, D. Z.; ZAGO, V. H. S.; FERREIRA, E. S. P.; AVANSINI, S. H.; PANZOLDO, N. B.; ALEXANDRE, F.; BARACAT, Jamal; REGINA NAKANDAKARE, Edna; QUINTÃO,, Eder Carlos Rocha; DE FARIA, Eliana Cotta; Asymptomatic individuals with high HDL-C levels overexpress ABCA1 and ABCG1 and present miR-33a dysregulation in peripheral blood mononuclear cells, 10/2015, Gene (Amsterdam),Vol. 570, Fac. 1, pp.50-56, Medison, Estados Unidos da América, 2015 *
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6.
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CONTE, A. L. O. S.; PASCHOAL FORTES, FERNANDA; BARUZZI, Maria J. Mastellaro; CARDINALLI, Izilda; DE J. G. ZAMBALDI, Lilian; AGUIAR, Aguiar, Simone; YUNES, José Andres; Occurrence of Neuroblastoma among TP53 p.R337H Carriers, 10/2015, PLoS ONE,Vol. 10, Fac. 10, pp.1-16, San Francisco, Estados Unidos da América, 2015 *
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7.
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BETTINI PEREIRA, R.A.; BLASCOVI-ASSIS, Silvana Maria; NUNES, R; SANTOS, C.S.C.; QUINTANILHA, S.F.; DE CARVALHO, R.P.; OLIVEIRA, C. C.; ELIAS, K. M. I. F.; FRANCO, K. M. D.; ROSSINI, S. D. R.; CIASCA, Sylvia Maria; RIBEIRO, Maria Valeriana; ARAÚJO, C R; MARQUES DE FARIA, A P; BIOETHICAL ASPECTS AND SCIENTIFIC RESEARCH: PERCEPTION OF FAMILY CAREGIVERS OF PEOPLE WITH DOWN'S SYNDROME, 09/2015, Arquivos de Neuro-Psiquiatria (Impresso),Vol. 73, Fac., pp.103-113, Sao Paulo, SP, Brasil, 2015 *
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8.
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MARIANO, Fernanda Viviane; GONDAK, R. O.; MARTINS, A S; DELLA COLETTA, Ricardo; ALMEIDA, Oslei Paes de; KOWALSKI, Luiz Paulo; KREPISCHI, Ana Cristina V.; ALTEMANI, Albina M. de Almeida; Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas, 09/2015, Histopathology (Oxford. Print),Vol. 67, Fac. 3, pp.410-415, Oxford, Inglaterra, 2015 *
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9.
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MOLCK, M. C.; MONTEIRO, F. P. M.; SIMIONI, Milena; LOPES, V L G S; 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome, 09/2015, Journal of Developmental and Behavioral Pediatrics,Vol. 36, Fac. 7, pp.544-548, Philadelphia, Estados Unidos da América, 2015
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10.
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SANCHES GUARAGNA, Mara; GERVASIO DE BRITTO, Anna Cristina; PIVETA, C. S. C.; VILELA DE SOUZA, Marcela Luciano; SOUZA, S. R.; HENRIQUES, T. B.; MACIEL-GUERRA, AT; BELANGERO, Vera Maria Santoro; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; NPHS2 mutations account for only 15 % of nephrotic syndrome cases, 09/2015, Journal of Pediatric Endocrinology & Metabolism,Vol. 16, pp.1-10, Londres, Reino Unido, 2015 *
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11.
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WU, D.; MANDAL, S.; CHOI, A.; ANDERSON, A.; PROCHAZKOVA, M.; PERRY, H.; LOPES, V L G S; LAO, R.; WAN, E.; TANG, P.L.F.; KWOK, P.; KLEIN, O.; ZHUAN, B.; STAVOLINEK, A.M.; DLX4 is associated with orofacial clefting and abnormal jaw development, 08/2015, Human Molecular Genetics (Print),Vol. 24, Fac. 15, pp.4340-4352, Reino Unido, 2015
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12.
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VASCONCELLOS, J. F.; B. A. LARANJEIRA, Ângelo; C. LEAL, P.; BHASIN, M.K.; P. ZENATTI, P.; J. NUNES, R.; ROSENDO AUGUSTO YUNES, Rosendo Augusto Yunes; NOWILL, A. E.; A. LIBERMANN, Towia; ZERBINI, L.FERNANDO; YUNES, José Andres; SB225002 Induces Cell Death and Cell Cycle Arrest in Acute Lymphoblastic Leukemia Cells through the Activation of GLIPR1, 08/2015, PLoS ONE,Vol. 10, Fac. 8, pp.1-20, San Francisco, Estados Unidos da América, 2015
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13.
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MARTINS JUNIOR, C. R.; MARTINEZ, A. R. M.; D'ABREU, A. C. F.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Fatigue is frequent and severe in spinocerebellar ataxia type 1, 07/2015, Parkinsonism & Related Disorders,Vol. 21, Fac. 7, pp.821-822, Londres, Inglaterra, 2015 *
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14.
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TAVEIRA, M. O.; MORITA, Marcia Elisabete; YASUDA, C. L.; COAN, A. C.; SECOLIN, R.; COSTA, A. L. C.; CENDES, Fernando; Neurocysticercotic Calcifications and Hippocampal Sclerosis: A Case-Control Study, 07/2015, PLoS ONE,Vol. 10, Fac. 7, pp.1-14, San Francisco, Estados Unidos da América, 2015 *
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15.
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VIEIRA, T. A. P.; MONTEIRO, F. P. M.; SGARDIOLI, I. C.; SOUZA, J. de; CONTE, A. C. F.; MONLLEÓ, I. L.; FONTES, M. I. B.; FELIX, T M; LEAL, G F; RIBEIRO, E M; LOPES, V L G S; Clinical features in patients with 22q11.2 deletion syndrome ascertained by palatal abnormalities, 07/2015, The Cleft Palate-Craniofacial Journal (Print),Vol. 52, Fac. 4, pp.411-416, Lawrence, Estados Unidos da América, 2015
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16.
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KANNEBLEY, J. S.; MORIYAMA, L. S.; BASTOS, L. O. D.; STEINER, C. E.; Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 Gancliosidosis, 06/2015, Journal of Inherited Metabolic Disorders Reports,Vol. 1, pp.115-122, Berlin, Alemanha, 2015 *
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17.
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OLIVEIRA, M. S.; PAIVA E SILVA, Roberto Benedito de; GUERRA JUNIOR, Gil; MACIEL-GUERRA, AT; Parent's experiences of having a baby with ambiguous genitalia, 06/2015, Journal of Pediatric Endocrinology & Metabolism,Vol. 28, Fac. 7-8, pp.833-838, Londres, Reino Unido, 2015 *
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18.
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LEVY, Carlos Emílio; MORARI, J.; A. SILVA, Rosângela; YUNES, José Andres; BRANDALISE, Silvia Regina; MENDONÇA, R. M. H.; ARAÚJO, Marcela; SILVA, R. A.; Oral Mucositis in Pediatric Acute Lymphoblastic Leukemia Patients: Evaluation of Microbiological and Hematological Factors, 06/2015, Pediatric Hematology & Oncology,Vol. 00, pp.1-10, London, Inglaterra, 2015 *
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19.
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MILANI, M.; B. A. LARANJEIRA, Ângelo; VASCONCELLOS, J. F.; BRANDALISE, Silvia Regina; NOWILL, A. E.; YUNES, José Andres; Plasma Hsp90 Level as a Marker of Early Acute Lymphoblastic Leukemia Engraftment and Progression in Mice, 06/2015, PLoS ONE,Vol. 10, Fac. 6, pp.1-14, San Francisco, Estados Unidos da América, 2015 *
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20.
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PARAZZI, P. L. F.; MARSOM, F. A. L.; GONÇALVES DE O. RIBEIRO, Maria Ângela; ALMEIDA, C. C. B.; MARTINS, L. C.; PASCHOAL, Ilma Aparecida; TORO, A. A. D. C.; SANTOS SCHIVINSK, Camila Isabel; RIBEIRO, José Dirceu; Ventilatory abnormalities in patients with cystic fibrosis undergoing the submaximal treadmill exercise test, 05/2015, BMC Pulmonary Medicine (Online),Vol. 15, Fac., pp.1-11, London, Ilha Reunião (Réunion), 2015 *
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21.
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SALUM, L. B.; ALTEI, WF; B. A. LARANJEIRA, Ângelo; NEUENFELDT, P.D.; STUMPF, T.R.; VOLLMER, L.L>; B. SILVEIRA, Andre; DAY, B.W.; VOGT, A.; MASCARELLO, A.; CANEVAROLO, R. R.; DELATORRE, L.D.C.; DAGHESTANI, H.N.; PEREIRA DE SOUZA MELO, Carolina; C. LEAL, P.; FREDERICO, M J S; NASCIMENTO, L. F.; SOARES DOS SANTOS, Adair Roberto; ANDRICOPULO, A. D.; ROSENDO AUGUSTO YUNES, Rosendo Augusto Yunes; YUNES, José Andres; J. NUNES, R.; N-(1'-naphthyl)-3,4,5-trimethoxybenzohydrazide as microtubule destabilizer: synthesis, cytotoxicity, inhibition of cell migration and in vivo activity against acute lymphoblastic leukemia, 05/2015, European Journal of Medicinal Chemistry,Vol. 96, pp.504-518, Paris, França, 2015
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22.
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GUIMARÃES, R. P.; PIOVESANA, L. G.; MACHADO DE CAMPOS, Bruno; CAMPOS, L. S.; AZEVEDO, P. C.; TORRES, F. R.; AMATO-FILHO, Augusto Celso Scarparo; FRANCA JUNIOR, M. C.; LOPES CENDES, I; CENDES, Fernando; D'ABREU, A. C. F.; White matter microstructure in idiopatic craniocervical dystonia, 05/2015, Tremor and Other Hyperkinetic Movements,Vol. 1, Fac. 11, pp.5-5, New York, NY, Estados Unidos da América, 2015 *
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23.
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SILVEIRA, K. C.; BONADIA, L. C.; SUPERTI-FURGA, A; BERTOLA, D R; DE LIMA JORGE, Alexander Augusto; CAVALCANTI, D P; Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up, 04/2015, American Journal of Medical Genetics. Part A,Vol. 167, Fac. 4, pp.894-901, Hoboken, Estados Unidos da América, 2015
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24.
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BORN, J.P.L.; SANTOS, B.; SECOLIN, R.; GAMELEIRA, F T; ANDRADE, TIAGO GOMES; MACHADO, L.C.; GITAI, L.L.G.; GITAÍ, D L G; Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy, 04/2015, Arquivos de Neuro-Psiquiatria (Impresso),Vol. 73, Fac. 4, pp.289-292, Sao Paulo, SP, Brasil, 2015
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25.
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FAHL, C. N.; BRANCO, L. M. T.; BERGO, F. P. G.; D'ABREU, A. C. F.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Spinal Cord Damage in Machado-Joseph Disease, 04/2015, Cerebellum (London. Print),Vol. 14, Fac. 2, pp.128-132, New York, NY, Estados Unidos da América, 2015 *
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26.
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REIS, S. C.; TRAINA, F.; METZE, Konradin; LORAND-METZE, Irene; Improving the differential diagnosis between myelodysplastic syndromes and reactive peripheral cytopenias by multiparametric flow cytometry: the role of B-cell precursors, 04/2015, Diagnostic Pathology,Vol. 10, pp.1-10, London, Reino Unido, 2015 *
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27.
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REZENDE, T. J. R.; GUIMARAES, Rafael Paoliello; LOPES, T. M.; LOPES CENDES, I; CENDES, Fernando; CASTELLANO, G.; FRANCA JUNIOR, M. C.; Cerebral cortex involvement in Machado-Joseph disease, 02/2015, European Journal of Neurology (Print),Vol. 22, Fac. 2, pp.277-277, Oxford, Reino Unido, 2015 *
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28.
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SGARDIOLI, I. C.; VIEIRA, T. A. P.; SIMIONI, Milena; MONTEIRO, F. P. M.; LOPES, V L G S; 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening, 02/2015, Journal of Pediatric Genetics,Vol. 4, pp.17-22, Stuttgart, Alemanha, 2015
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29.
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REZENDE, T. J. R.; ALBUQUERQUE, M.; LAMAS, G. M.; MARTINEZ, A. R. M.; CAMPOS, B. M.; CASSEB, R. F.; SILVA, C. B.; BRANCO, L. M. T.; D'ABREU, A. C. F.; LOPES CENDES, I; CENDES, Fernando; FRANCA JUNIOR, M. C.; Multimodal MRI-Based Study in Patients with SPG4 Mutations, 02/2015, PLoS ONE,Vol. 10, Fac. 2, pp.1-12, San Francisco, Estados Unidos da América, 2015 *
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30.
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MOLCK, M. C.; VIEIRA, T. A. P.; SIMIONI, Milena; SGARDIOLI, I. C.; SANTOS, A. P.; XAVIER, A C; LOPES, V L G S; Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion. A case report, 01/2015, American Journal of Medical Genetics. Part A,Vol. 167, Fac. 1, pp.215-220, Hoboken, Estados Unidos da América, 2015
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31.
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FONTES, M. I. B.; MONLLEÓ, I. L.; LOPES, V L G S; SANTOS, A. P.; MOLCK, M. C.; SIMIONI, Milena; NASCIMENTO, D L L; MAIA DE ANDRADE, Ana Karolina; ROSENBERG, C; KREPISCHI, Ana Cristina V.; APPENZELLER, Simone; Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature, 01/2015, American Journal of Medical Genetics. Part A,Vol. 1, Fac. 1, pp.1-6, Hoboken, Estados Unidos da América, 2015 *
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32.
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STEINER, C. E.; Mowat-Wilson Syndrome, 01/2015, Arquivos de Neuro-Psiquiatria (Impresso),Vol. 73, Fac. 1, pp.1-2, Sao Paulo, SP, Brasil, 2015
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33.
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WAJNBERG, G.; CARVALHO, B. S.; FERREIRA, Carlos Guilherme; PASSETTI, F; Combined Analysis of SNP Array Data Identifies Novel CNV Candidates and Pathways in Ependymoma and Mesothelioma, 01/2015, BioMed Research International,Vol. 1, Fac., pp.1-11, New York, Estados Unidos da América, 2015
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34.
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MARSOM, F. A. L.; RUSSO HORTÊNCIO, Taís Daiene; AGUIAR, K. C. A.; RIBEIRO, José Dirceu; RIBEIRO, Antonio Fernando; BERTUZZO, C S; GONÇALVES DE O. RIBEIRO, Maria Ângela; LEVY, Carlos Emílio; TORO, A. A. D. C.; NOGUEIRA, R. J. N.; SAKANO, E.; Demographic, clinical, and laboratory parameters of cystic fibrosis during the last two decades: a comparative analysis., 01/2015, BMC Pulmonary Medicine (Online),Vol. 15, pp.3-3, London, Ilha Reunião (Réunion), 2015 *
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35.
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NG, R. T. Y.; RIBEIRO, José Dirceu; RIBEIRO, Antonio Fernando; BERTUZZO, C S; DALGE SEVERINO, Silvana; SAKANO, E.; MARSOM, F. A. L.; GONÇALVES DE O. RIBEIRO, Maria Ângela; Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations, 01/2015, Disease Markers (Print),Vol. 2015, Fac. 1, pp.1-11, Amsterdam, Holanda, 2015 *
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36.
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CENDES, Fernando; PICCININ, C. C.; PIOVESANA, L. G.; SANTOS, Maria Carolina Alves dos; GUIMARÃES, R. P.; CAMPOS, B. M.; REZENDE, T. J. R.; CAMPOS, L. S.; TORRES, F. R.; AMATO-FILHO, Augusto Celso Scarparo; FRANCA JUNIOR, M. C.; LOPES CENDES, I; D'ABREU, A. C. F.; Diffuse Decreased Gray Matter in Patients with Idiopathic Craniocervical Dystonia: A Voxel-Based Morphometry Study, 01/2015, Frontiers in Neurology,Vol. 5, pp.283-283, Lausanne, Suiça, 2015 *
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37.
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MATTOS, E P; SANSEVERINO, M T V; MAGALHÃES, J A; LEITE, J C L; FELIX, T M; TODESCHINI, L A; CAVALCANTI, D P; SHULLER-FACCINI, L.; Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations, 01/2015, Genetics and Molecular Biology (Impresso),Vol. 38, Fac. 1, pp.14-20, Ribeirão Preto, SP, Brasil, 2015
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38.
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BRASILEIRO, L. F.; DIAS PEREIRA, Luis Antonio Violin; MIRANDA, M. L.; FREITAS, Leandro Luiz Lopes de; MACIEL-GUERRA, AT; MARQUES DE FARIA, A P; GUERRA JUNIOR, Gil; Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant, 01/2015, Journal of Pediatric Endocrinology & Metabolism,Vol. 0, Fac. 0, pp.1-4, Londres, Reino Unido, 2015 *
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39.
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SEWAYBRICKER, L. E.; MIRANDA, M. L.; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; GUARAGNA FILHO, G.; ANDRADE, J. G. R.; PAULA, G. B.; Ovotesticular disorder of sex development with unusual karyotype: patient report, 01/2015, Journal of Pediatric Endocrinology & Metabolism,Vol. 28, Fac. 5-6, pp.677-680, Londres, Reino Unido, 2015 *
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40.
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B. SILVEIRA, Andre; B. A. LARANJEIRA, Ângelo; RODRIGUES, G.; C. LEAL, P.; CARDOSO, B. A.; TABORDA BARATA, JOÃO; ROSENDO AUGUSTO YUNES, Rosendo Augusto Yunes; ZANCHIN, N. I. T.; BRANDALISE, Silvia Regina; YUNES, José Andres; PI3K inhibition synergizes with glucocorticoids but antagonizes with methotrexate in T-cell acute lymphoblastic leukemia, 01/2015, Oncotarget,Vol. 6, pp.13105-13118, New York, Estados Unidos da América, 2015 *
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* Esta produção está associada também a outros órgãos
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