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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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RIM, P. H. H.; FIGUEIREDO, E. S.; HIRATA, F. E.; SAKATA, M. T.; STEINER, C. E.; MARQUES DE FARIA, A P; oCular findings in Brazilian identical twins with Cohen syndrome: case report, 10/2009, Arquivos Brasileiros de Oftalmologia (Impresso),Vol. 72, Fac. 6, pp.815-818, São Paulo, SP, Brasil, 2009 *
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2.
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FARIA, ELISANGELA JACINTO D; FARIA, ISABEL CRISTINA J D; RIBEIRO, José Dirceu; RIBEIRO, Antonio Fernando; HESSEL, Gabriel; BERTUZZO, C S; Associação entre os polimorfismos dos genes MBL2, TGF-β1 e CD14 com a gravidade da doença pulmonar na fibrose cística/ Association of MBL2, TGF-β1 and CD14 gene polymorphisms with lung disease severity in cystic fibrosis, 04/2009, Jornal Brasileiro de Pneumologia (Impresso),Vol. 35, Fac. 4, pp.334-342, Ribeirão Preto, SP, Brasil, 2009 *
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3.
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FARIA, ELISANGELA JACINTO D; FARIA, ISABEL CRISTINA J D; RIBEIRO, José Dirceu; RIBEIRO, Antonio Fernando; HESSEL, Gabriel; BERTUZZO, C S; Association of MBL2, TGF-beta1 and CD14 gene polymorphisms with lung disease severity in cystic fibrosis, 03/2009, Jornal Brasileiro de Pneumologia (Impresso),Vol. 35, Fac. 4, pp.334-342, Ribeirão Preto, SP, Brasil, 2009 *
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Circulação Internacional
1.
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D'ABREU, A. C. F.; FRANÇA JUNIOR, M. C.; CONZ, L.; FRIEDMAN, Joseph H.; NUCCI, Anamarli; CENDES, Fernando; LOPES CENDES, I; Sleep symptoms and their clinical correlates in Machado-Joseph disease, 04/2009, Acta Neurologica Scandinavica,Vol. 119, Fac. 4, pp.277-280, Copenhagen, Alemanha, 2009 *
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2.
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DAGONEAU, N; GOULET, M; GENEVIEVE, D; SZNAJER, Y; MARTINOVIC, J; SMITHSON, S; HUBER, C; BAUJAT, G; FLORI, E; TECCO, L; DELEZOIDE, A; SERRE, V; ALONSO, N.; LE-MERRER, M; MUNNICH, A; CORMIER-DAIRE, V; CAVALCANTI, D P; DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III, 01/2009, American Journal of Human Genetics,Vol. 84, pp.706-711, Cambridge, Estados Unidos da América, 2009
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3.
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HUBER, C; OULÉS, B; BERTOLI, M; CHAMI, M; FRADIN, M; ALANAY, Y; AL-GAZALI, L; AUSEMS, M G E M; BITOUN, P; CAVALCANTI, D P; KREBS, A; LE-MERRER, M; MORTIER, G; SHAFEGHATI, Y; SUPERTI-FURGA, A; ROBERTSON, S. P.; LE GOFF, C; MUDA, A O; PATERLINE-BRÉCHOT, P; MUNNICH, A; CORNIER-DAIRE, V.; Identification of CAT1 mutations in Desbuquois dysplasia., 07/2009, American Journal of Human Genetics,Vol. 85, pp.706-710, Cambridge, Estados Unidos da América, 2009
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4.
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FRANÇA JUNIOR, M. C.; D'ABREU, A. C. F.; NUCCI, Anamarli; LOPES CENDES, I; Motor nerve hyperexcitability and muscle cramps in Machado-Joseph disease - Reply, 01/2009, Archives of Neurology (Chicago),Vol. 66, Fac. 1, pp.139-140, New York, Estados Unidos da América, 2009 *
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5.
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FERRIGNO, I. S. V.; CLIQUET JUNIOR, A.; MAGNA, L A; ZOPPI FILHO, A.; Electromyography of the upper limbs during computer work: a comparasion of 2 wrist orthoses in healthy adults., 07/2009, Archives of Physical Medicine and Rehabilitation (Print),Vol. 90, Fac. 7, pp.1152-1158, Chicago, Estados Unidos da América, 2009 *
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6.
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BARROS, B. A.; MACIEL-GUERRA, AT; DE MELLO, Maricilda Palandi; COELI, F. B.; CARVALHO, A. B.; VIGUETTI CAMPOS, Nilma Lúcia; ASSUMPÇÃO, Juliana G.; MARQUES DE FARIA, A P; LEMOS-MARINI, Sofia Helena Valente; GUERRA JUNIOR, Gil; A inclusão de novas técnicas de análise citogenética aperfeiçoou o diagnóstico cromossômico da síndrome de Turner, 09/2009, Arquivos Brasileiros de Endocrinologia e Metabologia (Impresso),Vol. 53, Fac. 9, pp.1137-1142, São Paulo, SP, Brasil, 2009 *
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7.
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BARROS, B. A.; MACIEL-GUERRA, AT; DE MELLO, Maricilda Palandi; COELI, FB; CARVALHO, A. B.; CAMPOS, Nilma Lucia Viguetti; ANDRADE, J. G. R.; MARQUES DE FARIA, A P; LEMOS-MARINI, Sofia Helena Valente; GUERRA JUNIOR, Gil; The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome, 12/2009, Arquivos Brasileiros de Endocrinologia e Metabologia (Impresso),Vol. 53, Fac. 9, pp.1137-1142, São Paulo, SP, Brasil, 2009 *
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8.
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POMBO DE OLIVEIRA, Maria do Socorro; KOIFMAN, S.; VASCONCELOS, G. M. P.; EMERENCIANO, M.; DE OLIVEIRA NOVAES, C.; BRAZILIAN COLLABORATIVE STUDY, Brazilian Collaborative Study; PINHEIRO, Vitoria Regina Pereira; YUNES, José Andres; BRANDALISE, Silvia Regina; Development and perspective of current Brazilian studies on the epidemiology of childhood leukemia., 01/2009, Blood Cells, Molecules & Diseases (Print),Vol. 42, pp.121-125, San Diego, Estados Unidos da América, 2009 *
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9.
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BRANCATI, F; BERNARDINI, Laura; ROMANO, C; NOVELLI, A; DALLAPICCOLA, Bruno; CAVALCANTI, D P; Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome, 01/2009, Clinical Genetics,Vol. 76, pp.210-213, Copenhagen, Dinamarca, 2009
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10.
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SILVA-COSTA, S M; COELI, F. B.; CARVALHO, C. R. L.; MARQUES DE FARIA, A P; KURC, M.; PEREIRA, Tânia Regina Dias Silva; CAVENAGHI ARGENTINO POMILIO, Mariza Cavenaghi Argentino Pom; SARTORATO, Edi Lúcia; Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification., 10/2009, Genetic Testing (Cessou em 2008. Cont. ISSN 1945-0265 Genetic Testing and Molecular Biomarkers),Vol. 13, Fac. 5, pp.701-704, New Rochelle, Estados Unidos da América, 2009
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11.
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SCRIDELLI, Carlos Alberto; ASSUMPÇÃO, Juliana G.; GANAZZA, M. A.; ARAÚJO, Marcela; SILVIA TOLEDO, Silvia Toledo; DE MARTINO LEE, Maria Lúcia; ELISABETE DELBUONO, Elisabete Delbuono; PETRILLI, A.S.; QUEIROZ, Rosane de Paula; BIONDI, Andréa; VIANA, MB; YUNES, José Andres; TONE, Luiz Gonzaga; BRANDALISE, Silvia Regina; A simplified minimal residual disease polymerase chain reaction method at early treatment points can stratify children with acute lymphoblastic leukemia into good and poor outcome groups., 01/2009, Haematologica (Roma),Vol. 94, pp.781-789, Roma, Itália, 2009 *
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12.
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E A TRENTINI, E A Trentini; CREMA, E.; LLANOS, J C Llanos; LERCO, Mauro M; MAGNA, L A; LEONARDI, L. S.; Biliary tract reconstruction using jejunal tube: An experimental study in dogs, 11/2009, Hepatobiliary & Pancreatic Diseases International,Vol. 8, Fac. 2, pp.179-185, Hangzhou, China, 2009
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13.
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LOPES, V L G S; Planning the Human Variome Project: The Sapin Report, 01/2009, Human Mutation,Vol. 30, pp.496-510, New York, Estados Unidos da América, 2009
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14.
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PAES, T. R. L.; MEIRELLES, L. R.; FREITAS, Leandro Luiz Lopes de; MAGNA, L A; FERREIRA, Ubirajara; BILLIS, Athanase; The significance of microscopic bladder neck invasion in radical prostatectomies: pT4 disease?, 06/2009, International Urology and Nephrology,Vol. 41, Fac. 1, pp.71-76, Dordrecht, Holanda, 2009 *
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15.
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CONTE, F.F.; RIBEIRO, P. A. O.; MARCHESINI, R. B.; PASCHOAL, V. D.; BUSTORFF-SILVA, Joaquim; OLIVEIRA, A. R.; GILLIOLI, R.; SBRAGIA NETO, Lourenco; BITTENCOURT, J.C.; LOPES CENDES, I; Expression profile and distribution of EFHC1 gene transcript during rodent brain development, 02/2009, Journal of Molecular Neuroscience,Vol. 1, pp.1-3, Totowa, Estados Unidos da América, 2009 *
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16.
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D'ABREU, A. C. F.; FRANÇA JUNIOR, M. C.; APPENZELLER, S.; LOPES CENDES, I; CENDES, Fernando; Axonal Dysfunction in the Deep White Matter in Machado-Joseph Disease., 01/2009, Journal of Neuroimaging,Vol. 19, Fac. 1, pp.9-12, Thousand Oaks, Estados Unidos da América, 2009 *
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17.
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FRANÇA JUNIOR, M. C.; D'ABREU, A. C. F.; YASUDA, C. L.; BONADIA, L. C.; SANTOS DA SILVA, M; NUCCI, Anamarli; LOPES CENDES, I; CENDES, Fernando; A combined voxel-based morphometry and (1) H-MRS study in patients with Friedreich's ataxia, 03/2009, Journal of Neurology (Print),Vol. 1, Fac. 1, pp.1-11, Darmstadt, Alemanha, 2009 *
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18.
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GONÇALVES, E. M.; LEMOS-MARINI, Sofia Helena Valente; DE MELLO, Maricilda Palandi; BAPTISTA, Maria Tereza Matias; LI, L. F. R. S.; DUARTE BALDIN, Alexandre; CARVALHO, W. R. G.; FARIAS, É. S.; GUERRA JUNIOR, Gil; Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency, 01/2009, Journal of Pediatric Endocrinology & Metabolism,Vol. 22, Fac. 6, pp.519-530, Londres, Reino Unido, 2009 *
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19.
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MEDEIROS, Carla Campos Muniz; LEMOS-MARINI, Sofia Helena Valente; BRICOLA FILHO, Milton; CAMARGO, Edwaldo Eduardo; SANTOS, A. O.; MAGNA, L A; GUERRA JUNIOR, Gil; BAPTISTA, Maria Tereza Matias; MACIEL-GUERRA, AT; Turner's syndrome and subclinical autoimmune thyroid disease: a two-year follow-up study., 02/2009, Journal of Pediatric Endocrinology & Metabolism,Vol. 22, Fac. 2, pp.109-118, Londres, Reino Unido, 2009 *
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20.
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PEREIRA, T. C.; LOPES CENDES, I; Cryptic anhydrobiotic potential in man: Implications in medicine, 01/2009, Medical Hypotheses,Vol. 73, pp.506-507, Midlothian, Reino Unido, 2009
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21.
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FRANÇA JUNIOR, M. C.; D'ABREU, A. C. F.; NUCCI, Anamarli; CENDES, Fernando; LOPES CENDES, I; Progression of ataxia in patients with Machado-Joseph disease., 05/2009, Movement disorders,Vol. 11, Fac. 1, pp.1-1, New York, Estados Unidos da América, 2009 *
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22.
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FRANÇA JUNIOR, M. C.; D'ABREU, A. C. F.; NUCCI, Anamarli; CENDES, Fernando; LOPES CENDES, I; Progression of Ataxia in Patients with Machado-Joseph Disease, 07/2009, Movement disorders,Vol. 24, Fac. 9, pp.1387-1390, New York, Estados Unidos da América, 2009 *
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23.
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D'ABREU, A. C. F.; FRANÇA JUNIOR, M. C.; PAULSON, Henry; LOPES CENDES, I; Caring for Machado-Joseph diasease: Current undesrstanding and how to help patients., 10/2009, Parkinsonism & Related Disorders,Vol. 5, pp.20-23, Londres, Inglaterra, 2009 *
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24.
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MENDONÇA, R. M. H.; ARAÚJO, Marcela; MORARI, Josiane; SILVA, R. A.; YUNES, José Andres; BRANDALISE, Silvia Regina; Prospective evaluation of HSV-1, Candida spp, and oral bacteria on the severity of oral mucositis in pediatric acute lymphoblastic leukemia., 01/2009, Pediatric Blood & Cancer,Vol. 1, pp.1-1, Hoboken, Estados Unidos da América, 2009 *
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25.
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PEREIRA, A. H. M.; CLEMENTE, C. F. M. Z.; CARDOSO, A C; THEIZEN, T. H.; ROCCO, S. A.; MARIA, C. C. J.; GUIDO, M. C.; PASCOAL, V. D. A. B.; SOUZA, JRM; GOMES FRANCHINI, Kleber; LOPES CENDES, I; MEF2C Silencing Attenuates Load-Induced Left Ventricular Hypertrophy by Modulating mTOR/S6K Pathway in Mice, 12/2009, PLoS ONE,Vol. 4, pp.1-12, San Francisco, Estados Unidos da América, 2009
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26.
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MONLLEÓ, I. L.; MOSSEY, P.A.; LOPES, V L G S; Evaluation of craniofacial care outside the Brazilian reference network for craniofacial treatment, 01/2009, The Cleft Palate-Craniofacial Journal (Print),Vol. 46, pp.204-211, Lawrence, Estados Unidos da América, 2009
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27.
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LOURENÇO, D; BRAUNER, R; LIN, L.; DE PERDIGO, A; WERYHA, G; MURESAN, M; BOUDJENAH, R; GUERRA JUNIOR, Gil; MACIEL-GUERRA, AT; ACHERMANN, J C; MCELREAVEY, K; BASHAMBOO, A; Mutations in NR5A1 associated with ovarian insufficiency., 03/2009, The New England Journal of Medicine,Vol. 360, Fac. 12, pp.1200-1210, Boston, Inglaterra, 2009 *
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28.
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ARAUJO, Margareth Batistella; LEONARDI, L. S.; LEONARDI, M. I.; BOIN, Ilka de Fátima S.F.; MAGNA, L A; DONADI, Eduardo Antônio; KRAEMER, Maria Helena S.; Prospective analysis between the therapy of immunosuppressive medication and allogeneic microchimerism after liver transplantation, 01/2009, Transplant Immunology,Vol. 20, Fac. 3, pp.195-198, Amsterdam, Estados Unidos da América, 2009 *
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29.
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BILLIS, Athanase; MEIRELLES, L. R.; FREITAS, Leandro Luiz Lopes de; MAGNA, L A; FERREIRA, Ubirajara; Does the Type of Prostatic Atrophy Influence the Association of Extent of Atrophy in Needle Biopsies and Serum Prostate-specific Antigen Levels?, 11/2009, Urology (Ridgewood, N.J.),Vol. 74, Fac. 5, pp.1111-1115, Riverton, Estados Unidos da América, 2009 *
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30.
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REIS, Leonardo Oliveira; PEREIRA, T. C.; FAVARO, W. J.; CAGNON, Valeria Helena Alves; LOPES CENDES, I; FERREIRA, Ubirajara; Experimental animal model and RNA interference: a promising association for bladder cancer research, 01/2009, World Journal of Urology (Print),Vol. 1, pp.1-9, Heidelberg, Alemanha, 2009 *
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* Esta produção está associada também a outros órgãos
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