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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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ANJOS, F S; BUENO, B. H.; LIPINSKI-FIGUEIREDO, ENEIDA; PORCIUNCULA, C. G. G.; LOPES, V L G S; MONLLEÓ, I. L.; Family care practitioners experience with individuals with orofacial clefts in Brazil, 11/2013, Cadernos Saúde Coletiva (UFRJ),Vol. 21, Fac. 3, pp.237-244, Rio de Janeiro, RJ, Brasil, 2013
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2.
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LOPES CENDES, I; RIBEIRO, P. A. O.; Aspectos genéticos das epilepsias, 11/2013, Revista Médica Clínica Las Condes,Vol. 24, Fac. 6, pp.903-908, Santiago, Chile, 2013
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3.
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LOPES CENDES, I; RIBEIRO, P. A. O.; Aspectos genéticos de las epilepsias: una visión actualizada, 11/2013, Revista Médica Clínica Las Condes,Vol. 24, Fac. 6, pp.909-914, Santiago, Chile, 2013
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4.
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CORREIA, C. A. A.; MARSOM, F. A. L.; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; BERTUZZO, C S; Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis, 09/2013, Jornal Brasileiro de Pneumologia (Impresso),Vol. 39, Fac. 5, pp.555-561, Ribeirão Preto, SP, Brasil, 2013 *
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5.
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MARSON, Fernando Augusto Lima Marson; BERTUZZO, C S; GONÇALVES DE O. RIBEIRO, Maria Ângela; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis, 06/2013, Jornal Brasileiro de Pneumologia (Impresso),Vol. 39, pp.306-316, Ribeirão Preto, SP, Brasil, 2013 *
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6.
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ASSIS, M R; MARX, A G; MAGNA, L A; FERRIGNO, I. S. V.; Late morbidity in upper limb function and quality of life in women after breast cancer surgery, 05/2013, Revista Brasileira de Fisioterapia (Impresso),Vol. 17, Fac. 3, pp.236-243, São Carlos, SP, Brasil, 2013
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7.
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ARRIVABENE DE ARAUJO CORREA, Cynthia; RIBEIRO, Antonio Fernando; BERTUZZO, C S; RIBEIRO, José Dirceu; MARSOM, F. A. L.; Mutations in the CFTR gene in a referral center for cystic fibrosis, 01/2013, Jornal Brasileiro de Pneumologia (Impresso),Vol. 39, pp.555-561, Ribeirão Preto, SP, Brasil, 2013 *
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Circulação Internacional
1.
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SCORZA, F A; CENDES, Fernando; CAVALHEIRO, E.A.; LOPES CENDES, I; Sudden unexpected death in epilepsy: small RNAs raise expectations, 12/2013, Epilepsy & Behavior (Print),Vol. 29, Fac. 3, pp.591-593, San Diego, CA, Estados Unidos da América, 2013 *
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2.
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SANTOS, A. P.; ANDRADE, J. G. R.; PIVETA, C. S. C.; PAULO, J.; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; MACIEL-GUERRA, AT; Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants, 11/2013, BMC Medical Genetics (Online),Vol. 14, pp.1-12, Londres, Inglaterra, 2013 *
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3.
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NORONHA, M. R.; RIBEIRO, M. M. Q.; MAGNA, L A; REIS, Leonardo Oliveira; BILLIS, Athanase; MEIRELLES, L. R.; Controversial predictors of biochemical recurrence after radical prostatectomy: a study from a Latin American (Brazilian) Institution, 11/2013, International Braz J Urol (Impresso),Vol. 39, Fac. 6, pp.779-792, Rio de Janeiro, RJ, Brasil, 2013 *
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4.
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E. ALVAREZ, Alfonso; MARSON, Fernando Augusto Lima Marson; BERTUZZO, C S; ARNS, C. W.; RIBEIRO, J.D.; Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus., 11/2013, Jornal de Pediatria (Impresso),Vol. 89, Fac. 6, pp.531-543, Rio de Janeiro, RJ, Brasil, 2013 *
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5.
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QUEIROZ, L. B.; MARSOM, F. A. L.; RIBEIRO, José Dirceu; COY, Cláudio Saddy R.; BERTUZZO, C S; APC germline mutations in families with familial adenomatous polyposis, 11/2013, Oncology Reports,Vol. 30, Fac. 5, pp.2081-2088, Athens, Grécia, 2013 *
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6.
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KLEITON S BORGES, Kleiton S Borges; MORENO, Daniel Antunes; MARTINELLI JUNIOR, Carlos Eduardo; SONIR R R ANTONINI, Sonir R R Antonini; CASTRO, Margaret de; TUCCI JÚNIOR, Silvio; NEDER, L; RAMALHO, Leandra N Z; CONTE, A. L. O. S.; CARDINALLI, Izilda; BARUZZI, Maria J. Mastellaro; YUNES, José Andres; BRANDALISE, Silvia Regina; TONE, Luiz Gonzaga; SCRIDELLI, Carlos Alberto; Spindle Assembly Checkpoint Gene Expression in Childhood Adrenocortical Tumors (ACT): Overexpression of Aurora Kinases A and B Is Associated With a Poor Prognosis, 11/2013, Pediatric Blood & Cancer,Vol. 60, Fac. 11, pp.1809-1816, Hoboken, Estados Unidos da América, 2013 *
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7.
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SCOTT K. DURUM, Scott K. Durum; LI, W.Q.; P. ZENATTI, P.; RIBEIRO, D.; LINDA ZUURBIER, Linda Zuurbier; SILVA, M.C.; MADDALENA PAGANIN, Maddalena Paganin; JULIA TRITAPOE, Julia Tritapoe; JULIE A. HIXON, Julie A. Hixon; SILVEIRA, A. B.; CARDOSO, B. A.; LEONOR M. SARMENTO, Leonor M. Sarmento; CORREIA, N; MARIA L. TORIBIO, Maria L. Toribio; KOBARG, Joerg; MARTIN HORSTMANN, Martin Horstmann; PIETERS, R.; BRANDALISE, Silvia Regina; ADOLFO A. FERRANDO, Adolfo A. Ferrando; JULES P. MEIJERINK, Jules P. Meijerink; YUNES, José Andres; TABORDA BARATA, JOÃO; IL-7R: Mutations in T-ALL and polymorphisms in autoimmunity, 09/2013, Cytokine,Vol. 63, Fac. 3, pp.260-261, London, Reino Unido, 2013 *
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8.
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VILLA, Jonatas Figueiredo Villa; LIMA, C. S. P.; BERTUZZO, C S; Family history and colorectal cancer: A study to investigate the incidence of hereditary and familial colorectal cancer, 09/2013, European Journal of Cancer Prevention,Vol. 49, pp.526-526, Hagerstown, Estados Unidos da América, 2013 *
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9.
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LUCON, D. R.; ROCHA, C. S.; CRAVEIRO, R.B.; DILLOO, D.; CARDINALLI, Izilda; CAVALCANTI, D P; AGUIAR, Aguiar, Simone; MAURER-MORELLI, C. V.; YUNES, José Andres; Downregulation of 14q32 microRNAs in Primary Human Desmoplastic Medulloblastoma, 09/2013, Frontiers in oncology,Vol. 3, pp.1-14, Lausanne, Suiça, 2013 *
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10.
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LOPES, T. M.; D'ABREU, A. C. F.; FRANCA JUNIOR, M. C.; YASUDA, C. L.; BETTING, L. E. G. G.; BASTOS, A; CASTELLANO, G.; JULIO CESAR SOMAZZ, Julio Cesar Somazz; BALTHAZAR, M. L. F.; LOPES CENDES, I; CENDES, Fernando; Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3, 09/2013, Journal of Neurology (Print),Vol. 260, Fac. 9, pp.2370-2379, Darmstadt, Alemanha, 2013 *
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11.
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LOPES, V L G S; XAVIER, A C; KLEIN-ANTUNES, D.; FERREIRA, A C R G; TONOCCHI, R; CONTE, A. C. F.; SILVA, R N; LEIRIÃO, V H V; CARAMORI, L P C; MAGNA, L A; MENDES, L. G. A.; Feeding Infants With Cleft Lip and/or Palate in Brazil: Suggestions to Improve Health Policy and Research, 09/2013, The Cleft Palate-Craniofacial Journal (Print),Vol. 50, Fac. 5, pp.577-590, Lawrence, Estados Unidos da América, 2013
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12.
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TAKAZAKI, K. A. G.; D'ABREU, A. C. F.; NUCCI, Anamarli; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Dysautonomia is frequent in Machado-Joseph Disease: clinical and neurophysiological evaluation, 08/2013, Cerebellum (London. Print),Vol. 12, Fac. 4, pp.513-519, New York, NY, Estados Unidos da América, 2013 *
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13.
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ALMEIDA, P.H.T.Q.; CRUZ, D.M.C.; MAGNA, L A; FERRIGNO, I. S. V.; An electromyographic analysis of two handwriting grasp patterns, 08/2013, Journal of Electromyography and Kinesiology,Vol. 23, Fac. 4, pp.838-843, New York, Estados Unidos da América, 2013
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14.
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LANGANKE PEDROSO, João Carlos; FRANCA JUNIOR, M. C.; D'ABREU, A. C. F.; SARAIVA-PEREIRA, Maria Luiza; SAUTE, J A M; TEIVE, H.A.G.; CARAMELLI, P.; JARDIM, Laura B.; LOPES CENDES, I; Nonmotor and extracerebellar features in Machado-Joseph disease: a review, 08/2013, Movement disorders,Vol. 29, Fac. 9, pp.1200-1208, New York, Estados Unidos da América, 2013 *
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15.
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SGARDIOLI, I. C.; SIMIONI, Milena; VIGUETTI CAMPOS, Nilma Lúcia; PROTTA, J. R. M.; LOPES, V L G S; A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion, 07/2013, Gene (Amsterdam),Vol. 523, Fac. 2, pp.192-194, Medison, Estados Unidos da América, 2013 *
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16.
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MARQUES DE FARIA, A P; HOROVITZ, D. D. G.; FERRAZ, Victor Evangelista de Faria; DAIN, Sulamis; Genetic services and testing in Brazil, 07/2013, Journal of Community Genetics,Vol. 4, Fac. 3, pp.355-375, Heidelberg, Alemanha, 2013
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17.
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GUIMARÃES, R. P.; D'ABREU, A. C. F.; YASUDA, C. L.; FRANCA JUNIOR, M. C.; SILVA, B. H. B.; CAPPABIANCO, F. A. M.; BERGO, F. P. G.; LOPES CENDES, I; CENDES, Fernando; A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3, 07/2013, Movement disorders,Vol. 28, Fac. 8, pp.1125-1132, New York, Estados Unidos da América, 2013 *
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18.
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NAKAJIMA, MASAHIRO; MIZUMOTO, Shuji; MIYAKE, Noriko; IIDA, Aritoshi; ITO, Hironori I; KITOH, Hiroshi; HIRAYAMA, Aya; KOGAWA, Ryo; MITSUBUCHI, Hiroshi; MIYAZAKI, Osamu; KOSAKI, Rika; HORIKAWA, Reiko; LAI, Angeline; DUPUIS, Lucie; MENDOZA-LONDONO, Roberto; CHITAYAT, David; HOWARD, Andrew; LEAL, G F; CAVALCANTI, D P; KITSUTAKA, Y.; SAITSU, Hirotomo; WATANABE, Shigehiko; LAUSCH, Ekkehart; UNGER, S; BONAFÉ, L; OHASHI, Hirofumi; SUPERTI-FURGA, A; MATSUMOTO, Naomichi; SUGAHARA, K.; NISHIMURA, Gen; IKEGAWA, Shiro; Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders., 06/2013, American Journal of Human Genetics,Vol. 92, Fac. 6, pp.927-934, Cambridge, Estados Unidos da América, 2013
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19.
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MARSOM, F. A. L.; BERTUZZO, C S; SECOLIN, R.; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; Genetic interaction of GSH metabolic pathway genes in cystic fibrosis, 06/2013, BMC Medical Genetics (Online),Vol. 14, pp.1-9, Londres, Inglaterra, 2013 *
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20.
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SILVA, C B DA; YASUDA, C. L.; D'ABREU, A. C. F.; CENDES, Fernando; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Neuroanatomical correlates of depression in Friedreich's Ataxia: A Voxel-Based Morphometry Study., 06/2013, Cerebellum (London. Print),Vol. 12, Fac. 3, pp.429-436, New York, NY, Estados Unidos da América, 2013 *
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21.
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MATOS, A. H. B.; CHARRET, T S; PASCOAL, V. D. A. B.; VIEIRA, A.; GILIOLI, Rovilson; LOPES CENDES, I; INVESTIGATING THE ROLE OF MICROGLIAL ACTIVATION MEDIATED BY MICRORNA-124 IN THE PILOCARPINE EPILEPSY MODEL, 06/2013, Epilepsia (Copenhagen),Vol. 54, pp.296-296, Pennsylvania, Estados Unidos da América, 2013 *
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22.
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TORRES, F. R.; SOUZA-KOLS, D. A.; GUERREIRO, Marilisa Mantovani; MONTENEGRO, M. A. S.; SANTOS, A C; TERRA, v.c.; SAKAMOTO, A.C.; CENDES, Fernando; LOPES CENDES, I; ROLE OF RARE COPY NUMBER VARIATIONS IN MALFORMATIONS OF HUMAN CEREBRAL CORTEX, 06/2013, Epilepsia (Copenhagen),Vol. 54, pp.202-202, Pennsylvania, Estados Unidos da América, 2013 *
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23.
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GONÇALVES, E. M. A. R.; SGARDIOLI, I. C.; LOPES CENDES, I; ESCANHOELA, Cecilia Amelia Fazzio; ZEITUNE, Jose Murilo Robilott; ALMEIDA, J. R. S.; Improved Detection of Helicobacter pylori DNA in Formalin-fixed Paraffin-embedded (FFPE) Tissue of Patients with Hepatocellular Carcinoma Using Laser Capture Microdissection (LCM), 06/2013, Helicobacter (Cambridge, Mass.),Vol. 1, pp.244-245, Oxford, Reino Unido, 2013 *
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24.
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LOUZEIRO, Maria Raquel Marques F de M; ANNICHINO-BIZZACCHI, Joyce Maria; MAGNA, L A; QUAINO, SK; PINTO, C. L. B.; Faster thrombin generation in women with polycystic ovary syndrome compared with healthy controls matched for age and body mass index, 05/2013, Fertility and Sterility,Vol. 99, Fac. 6, pp.1786-1790, Birmingham, Alabama, Estados Unidos da América, 2013 *
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25.
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BILLIS, Athanase; MEIRELLES, L. R.; FREITAS, Leandro Luiz Lopes de; POLIDORO, A. S.; FERNANDES, H. A.; PADILHA, M. M.; MAGNA, L A; REIS, L. O.; FERREIRA, Ubirajara; Adenocarcinoma on needle prostatic biopsies: Does reactive stroma predicts biochemical recurrence in patients following radical prostatectomy?, 05/2013, International Braz J Urol (Impresso),Vol. 39, Fac. 3, pp.320-327, Rio de Janeiro, RJ, Brasil, 2013 *
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26.
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PRADO, F. C.; ARALDI, D.; VIEIRA, A. S.; FUSARO, M. C. G. O.; TAMBELI, CLÁUDIA HERRERA; PARADA, C. A.; Neuronal P2X3 receptor activation is essential to the hyperalgesia induced by prostaglandins and sympathomimetic amines released during inflammation, 04/2013, Neuropharmacology,Vol. 67, pp.252-258, Oxford, Reino Unido, 2013 *
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27.
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CHEVIS, C. F.; SILVA, C. B.; D'ABREU, A. C. F.; LOPES CENDES, I; CENDES, Fernando; BERGO, F. P. G.; FRANCA JUNIOR, M. C.; Spinal cord atrophy correlates with disability in Friedreich's Ataxia, 02/2013, Cerebellum (London. Print),Vol. 12, Fac. 1, pp.43-47, New York, NY, Estados Unidos da América, 2013 *
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28.
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MONTEIRO, F. P. M.; VIEIRA, T. A. P.; SGARDIOLI, I. C.; MOLCK, M. C.; DAMIANO, A. P.; JOSIANE SOUZA, Josiane Souza; MONLLEO, I L; FONTES, M. I. B.; CONTE, A. C. F.; FELIX, T M; LEAL, G F; RIBEIRO, E M; BANZATO, Cláudio E. M.; DANTAS, C. R.; LOPES CENDES, I; LOPES, V L G S; Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature, 02/2013, European Journal of Pediatrics,Vol. x, pp.10-30, Berlin, Alemanha, 2013 *
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29.
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GIUGLIANI, R.; ACOSTA, A; TORALLES, Maria Betania; RIBEIRO, E.; VALADARES, E. R.; SANTANA DA SILVA, L.C.; KIM, C A; LOURENÇO, C.; HOROVITZ, D. D. G.; BOY, R.; STEINER, C. E.; RIBEIRO, M; FEDERHEN, A.; MPS Brazil Network: An efficient tool to identify MPS patients country-wide, 02/2013, Molecular Genetics and Metabolism (Print),Vol. 108, Fac. 2, pp.43-44, Orlando, Estados Unidos da América, 2013
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30.
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HUBER, C; FAQEIH, E.A.; BARTHOLDI, D; FEYSOT, C.B.; BOROCHOWITZ, Z; CAVALCANTI, D P; FRIGO, A; NITSCHKE, P; ROUME, J; SANTOS, H. S; SHALEV, S. A.; SUPERTI-FURGA, A; DELEZOIDE, A; LE-MERRER, M; MUNNICH, A; CORMIER-DAIRE, V; Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia, 01/2013, American Journal of Human Genetics,Vol. 92, pp.144-149, Cambridge, Estados Unidos da América, 2013
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31.
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SANCHES GUARAGNA, Mara; GERVASIO DE BRITTO, Anna Cristina; PIVETA, C. S. C.; BELANGERO, Vera Maria Santoro; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria, 01/2013, Biochemical and Biophysical Research Communications (Print),Vol. 441, pp.371-376, San Diego, CA, Estados Unidos da América, 2013 *
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32.
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SCHERRER, D. Z.; BAPTISTA, M. B.; MATOS, A. H. B.; MAURER-MORELLI, C. V.; STEINER, C. E.; Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2, 01/2013, European Journal of Medical Genetics,Vol. 56, pp.336-339, Leuven, Bélgica, 2013
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33.
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SANTOS, A. P.; VIEIRA, T. A. P.; SIMIONI, Milena; MONTEIRO, F. P. M.; LOPES, V L G S; Partial monosomy 21 (q11.2 -> q21.3) combined with 3p25.3 -> pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay, 01/2013, Gene (Amsterdam),Vol. 513, Fac. 2, pp.301-304, Medison, Estados Unidos da América, 2013
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34.
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MARSOM, F. A. L.; M. REZENDE, L.; FURGERI, D. T.; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; BERTUZZO, C S; ADRA2A IS A CYSTIC FIBROSIS MODIFIER GENE, 01/2013, International Journal of Genetics,Vol. 5, pp.125-131, Navi Mumbai, Índia, 2013 *
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35.
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MARSOM, F. A. L.; MARCELINO, A. R. B.; BERTUZZO, C S; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; COX-2 GENE POLYMORPHISMS: GENETIC DETERMINANTS OF CYSTIC FIBROSIS COMORBIDITIES, 01/2013, International Journal of Genetics,Vol. 5, pp.132-138, Navi Mumbai, Índia, 2013 *
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36.
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PEREIRA, T. C.; EVANGELISTA, C. C. S.; BORGES, G.; ZANOTTI-MAGALHAES, Eliana Maria; MAGALHÃES, Luiz Augusto; LOPES CENDES, I; Applications of RNA Interference in Schistosomiasis: Gene Function Identification and Development of New Therapies, 01/2013, ISRN Parasitology (Online),Vol. 2013, pp.1-10, New York, Estados Unidos da América, 2013 *
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37.
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E. ALVAREZ, Alfonso; MARSOM, F. A. L.; BERTUZZO, C S; ARNS, C. W.; RIBEIRO, José Dirceu; Epidemiological and genetic characteristics associated with the severity of acute viral bronchiolitis by respiratory syncytial virus, 01/2013, Jornal de Pediatria (Impresso),Vol. 89, pp.531-543, Rio de Janeiro, RJ, Brasil, 2013 *
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38.
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VIEIRA, T. A. P.; SGARDIOLI, I. C.; LOPES, V L G S; Genetics and Public Health: The Experience of a Reference Center for Diagnosis of 22q11.2 Deletion in Brazil and suggestions for implementing genetic testing, 01/2013, Journal of Community Genetics,Vol. 4, Fac. 1, pp.99-106, Heidelberg, Alemanha, 2013
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39.
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SILVEIRA, Vanessa da Silva; SCRIDELI, C.A.; MORENO, Daniel Antunes; YUNES, José Andres; G. P. QUEIROZ, Rosane; DE TOLEDO, S. R. C.; DE MARTINO LEE, Maria Lúcia; PETRILLI, A.S.; BRANDALISE, Silvia Regina; TONE, Luiz Gonzaga; Gene expression pattern contributing to prognostic factors in childhood acute lymphoblastic leukemia, 01/2013, Leukemia & Lymphoma (Print),Vol. 54, Fac. 2, pp.310-314, London, Inglaterra, 2013 *
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40.
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SILVA, C. B.; CHEVIS, C. F.; D'ABREU, A. C. F.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Fatigue is frequent and multifactorial in Friedreich's ataxia, 01/2013, Parkinsonism & Related Disorders,Vol. -, pp.1-2, Londres, Inglaterra, 2013 *
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41.
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PICCININ, C. C.; SANTOS, M. C. A.; PIOVESANA, L. G.; CAMPOS, L. S.; GUIMARÃES, R. P.; CAMPOS, B. M.; TORRES, F. R.; FRANCA JUNIOR, M. C.; FILHO, Augusto Celso Amato; LOPES CENDES, I; CENDES, Fernando; D'ABREU, A. C. F.; Infratentorial gray matter atrophy and excess in primary craniocervical dystonia, 01/2013, Parkinsonism & Related Disorders,Vol. xx, pp.20-20, Londres, Inglaterra, 2013 *
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42.
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BILLIS, Athanase; MEIRELLES, L. R.; FREITAS, Leandro Luiz Lopes de; SCHMITT POLIDORO, Aline; FERNANDES, H. A.; PADILHA, M. M.; MAGNA, L A; FERREIRA, Ubirajara; Prostate total tumor extent versus index tumor extent - Which is predictive of biochemical recurrence following radical prostatectomy?, 01/2013, The Journal of Urology,Vol. 189, Fac. 1, pp.99-104, Baltimore, Estados Unidos da América, 2013 *
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* Esta produção está associada também a outros órgãos
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