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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 Nacional
1.
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SILVA, L. F. A. L.; LOUREIRO, J. C.; FRANCO, S. C. R.; SANTOS, M. L.; SECOLIN, R.; DANTAS, C. R.; LOPES CENDES, I; BANZATO, Cláudio E. M.; Assessing treatment response to prophylactic lithium use in patients with bipolar disorder, 03/2016, Jornal Brasileiro de Psiquiatria (UFRJ. Impresso),Vol. 65, Fac. 1, pp.9-16, Rio de Janeiro, RJ, Brasil, 2016 *
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Circulação Internacional
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BARBALHO, P. G.; MAURER-MORELLI, C. V.; LOPES CENDES, I; Indomethacin treatment prior to pentylenetetrazole-induced seizures downregulates the expression of il1b and cox2 and decreases seizure-like behavior in zebrafish larvae, 12/2016, BMC Neuroscience (Online),Vol. 17, Fac. 1, pp.252-261, Londres, Reino Unido, 2016
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2.
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SILVEIRA, C.; LEAL, G F; CAVALCANTI, D P; Desbuquois dysplasia type II in a patient with a homozygous mutation in and new unusual findings, 11/2016, American Journal of Medical Genetics. Part A,Vol. 170, Fac. 11, pp.3043-3047, Hoboken, Estados Unidos da América, 2016
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3.
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MORENO, Carolina Araujo; METZE, Konradin; DA COSTA-PINTO, Elizete Ap. Lomazi; BERTOLA, D R; BARBOSA, R.H.A.; COSENTINO, V.; SOBREIRA, N.; CAVALCANTI, D P; Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes, 11/2016, American Journal of Medical Genetics. Part A,Vol. 170, Fac. 11, pp.2965-2974, Hoboken, Estados Unidos da América, 2016 *
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4.
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BARBALHO, P. G.; CARVALHO, B. S.; LOPES CENDES, I; MAURER-MORELLI, C. V.; Cyclooxygenase-1 as a Potential Therapeutic Target for Seizure Suppression: Evidences from Zebrafish Pentylenetetrazole-Seizure Model, 11/2016, Frontiers in Neurology,Vol. 7, Fac. 4, pp.475-480, Lausanne, Suiça, 2016 *
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5.
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PAULA, G. B.; BARROS, B. A.; CARPINI, S.; JORDANI TINCANI, Bruna; MAZZOLA, T. N.; GUARAGNA, M. S.; SANTOS DA CRUZ PIVETA, Cristiane; OLIVEIRA, L. C.; ANDRADE, J. G. R.; GUARAGNA FILHO, G.; BARBIERI, P. P.; FERREIRA, N. M.; MIRANDA, M. L.; GONÇALVES, E. M.; LEMOS-MARINI, Sofia Helena Valente; PAIVA E SILVA, Roberto Benedito de; MARQUES DE FARIA, A P; DE MELLO, Maricilda Palandi; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing, 11/2016, International Journal of Endocrinology,Vol. 2016, Fac. 5, pp.1-9, New York, NY, Estados Unidos da América, 2016 *
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6.
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FREITAS, D. A. S.; RIBEIRO, A F; DAMASCENO, S.; ROCHA, C. S.; MATOS, A. H. B.; LACERDA, R.B.; CORREIA, D; GODARD, A.L.B.; Inflexible ethanol intake: A putative link with the Lrrk2 pathway, 10/2016, Behavioural Brain Research,Vol. 313, Fac., pp.30-37, Amsterdam, Holanda, 2016
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7.
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PAGOTTO, A. G. F.; MARSOM, F. A. L.; GOMEZ, C. C. S.; GONÇALVES DE O. RIBEIRO, Maria Ângela; BRIOSCHI MORAIS, Lucas; SERVIDONI, M. F. C. P.; BERTUZZO, C S; SAKANO, E.; GOTO, M. M. F.; PASCHOAL, Ilma Aparecida; PEREIRA, M. C.; HESSEL, Gabriel; LEVY, Carlos Emílio; TORO, A. A. D. C.; OLIVEIRA PEIXOTO, Andressa; SANTOS, M. C. R.; DA COSTA-PINTO, Elizete Ap. Lomazi; NOGUEIRA, R. J. N.; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?, 10/2016, Diagnostic Pathology,Vol. 11, Fac., pp.1-8, London, Reino Unido, 2016 *
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8.
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D'AVILA, L.; GARBIM, B. B.; BELANGERO, Vera Maria Santoro; OLIVEIRA, R. B.; PINHEIRO, C.B.F.; RIGATTO, Sumara Zuanazi Pinto; GERVASIO DE BRITTO, Anna Cristina; GONTIJO, P. R.; Psittacosis as uncommon cause of hypercalcemia: Case Report, 10/2016, Pediatric Nephrology (Berlin, West),Vol. 31, Fac. 10, pp.1778-1778, Heidelberg, Alemanha, 2016 *
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9.
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ANDRADE, J. G. R.; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; FABBRI, H. C.; NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations, 10/2016, Sexual Development,Vol. 10, Fac. 4, pp.191-199, Basel, Suiça, 2016 *
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10.
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BOSO, A. L. M.; VITURINO, M. G. M.; ALVES, Monica; PAULA, E. V.; HOUNKPE, B. W.; FIUSA, M. M. L.; ANDRADE, B. S.; A meta-analysis of gene expression studies highlights the role of inflammation in the pathogenesis of pterygium, 09/2016, Investigative Ophthalmology & Visual Science,Vol. 57, Fac. 12, pp.1-4, Rockville, Estados Unidos da América, 2016 *
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11.
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ANDRADE, H. M. T.; ALBUQUERQUE, M.; AVANSINI, S. H.; ROCHA, C S; DOGINI, Danyella Barbosa; NUCCI, Anamarli; B DE CARVALHO, ; LOPES CENDES, I; FRANCA JUNIOR, M. C.; MicroRNAs-424 and 206 are potential prognostic markers in spinal onset amyotrophic lateral sclerosis, 09/2016, Journal of the Neurological Sciences,Vol. 368, pp.19-24, Amsterdam, Holanda, 2016 *
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12.
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CLETO, T L; GOMES PENIDO MACHADO, Márcia; MACIEL-GUERRA, AT; BELANGERO, Vera Maria Santoro; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; GUARAGNA, M. S.; GERVASIO DE BRITTO, Anna Cristina; SOUZA, M. L.; CASTRO, LUIZ CLAUDIO GONÇALVES; PENIDO, M.G.M.G.; NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described, 09/2016, Nephrology (Carlton. Print),Vol. 21, Fac. 9, pp.753-757, Richmond, Austrália, 2016 *
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ARAUJO, T. F.; RIBEIRO, E M; ARRUDA, A. P.; MORENO, Carolina Araujo; MEDEIROS, P.; MINILLO, R.M.; MELO, D G; KIM, C A; DORIQUI, M.J.R.; FELIX, T M; FOCK, R.A.; CAVALCANTI, D P; Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region, 08/2016, European Journal of Medical Research (Online),Vol. 21, Fac., pp.1-12, London, Inglaterra, 2016
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14.
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LAZZARINI FURLAN, Larissa; MARSOM, F. A. L.; RIBEIRO, José Dirceu; BERTUZZO, C S; SALOMÃO JUNIOR, João Batista; SILVA SOUZA, Dorotéia Rossi; IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability, 08/2016, Human Genetics,Vol. 135, Fac. 8, pp.881-894, Berlin, Alemanha, 2016 *
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15.
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BERTUZZO, C S; RIBEIRO, José Dirceu; MARSOM, F. A. L.; Classification of CFTR mutation classes, 08/2016, Lancet (British edition),Vol. 4, Fac. 8, pp.30188-30190, London, Reino Unido, 2016 *
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16.
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MIRANDA, P. M. A. D.; COSTA, S. M. S.; BALIEIRO, J C; FERNANDES, M. S. A.; ALVES, R. M.; MACIEL-GUERRA, AT; MARCONDES, Ana Maria; SARTORATO, Edi Lúcia; Multiplex MALDI-TOF MD detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy, 08/2016, Molecular Vision,Vol. 22, pp.1024-1035, Georgia, Estados Unidos da América, 2016 *
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17.
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IGNARRO, Raffaela Silvestre; FACCHINI, Gustavo; VIEIRA, A. S.; MELO, D. R.; LOPES CENDES, I; CASTILHO, Roger Frigério; ROGERIO, F.; Sulfasalazine intensifies temozolomide cytotoxicity in human glioblastoma cells, 07/2016, Molecular and Cellular Biochemistry,Vol. 418, Fac. 1-2, pp.167-178, Dordrecht, Holanda, 2016 *
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18.
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GIUSEPPE, P. O.; SANTOS, M. L.; SOUSA, Sylvia Morais de; KOCH, Karen E.; YUNES, José Andres; APARICIO, R.; MURAKAMI, Mario Tyago; A comparative structural analysis reveals distinctive features of co-factor binding and substrate specificity in plant aldo-keto reductases, 06/2016, Biochemical and Biophysical Research Communications (Print),Vol. 474, Fac. 4, pp.696-701, San Diego, CA, Estados Unidos da América, 2016 *
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19.
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JEREMIAS, Fabiano; FRAGELLI, Camila Maria Bullio; RESTREPO, Mauricio; FINOTI, Livia S.; BUSSANELI, D.G; SECOLIN, R.; MAURER-MORELLI, C. V.; SCAREL, Raquel Mantuaneli; SANTOS-PINTO, L A M; Family-Based Genetic Association for Molar-Incisor Hypomineralization, 06/2016, Caries Research,Vol. 50, Fac. 3, pp.310-318, Basel, Suiça, 2016
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20.
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CASTRO, Margaret de; NEDER, L; MASTELLARO, Maria José; YUNES, José Andres; BRANDALISE, Silvia Regina; TONE, Luiz Gonzaga; RAUBER ANTONINI, Sonir Roberto; SCRIDELI, C.A.; LIRA, Régia C. P.; CONTE, A. L. O. S.; CARDINALLI, Izilda; FEDELHO, P.F.; ANTONIO,, D.; LEAL, L.F.; CARLOS E. MARTINELLI, ; TUCCI JÚNIOR, Silvio; RAMALHO, Leandra N Z; IGF2 and IGF1R in pediatric adrenocortical tumors: roles in metastasis and steroidogenesis, 06/2016, Endocrine-Related Cancer,Vol. 23, Fac. 6, pp.481-493, Bradley Stoke, Reino Unido, 2016 *
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21.
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S, GERBER; ALZAYADY, K J; LOPES, V L G S; ROSA, M. F. R.; MUNNICH, A; KAPLAN, J.; BURGLEN, L.; GIGNAC, D.B.; MARCHESIN, V.; ROCHE, O.; RIO, M.; FUNALOT, B.; CALMON, R.; DURR, A.; ORSSAUD, C.; HERON, B.; AYOUB, E.; BERQUIM, P.; BAHI-BUISSON, N.; Recessive and dominant de novo ITPR1 mutations cause Gillespie Syndrome, 05/2016, American Journal of Human Genetics,Vol. 98, Fac. 5, pp.971-980, Cambridge, Estados Unidos da América, 2016
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22.
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GARCIA, D.F.; LOPEZ-CAMELO, J.S.; MOLFETTA, G A; TURCATO, M; SOUZA, C F M; PORTA, Gilda; STEINER, C. E.; SILVA, W.A.; Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations, 05/2016, BMC Medical Genetics (Online),Vol. 17, pp.1-9, Londres, Inglaterra, 2016
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23.
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MIGUEL NETO, J.; CARVALHO, A. B.; MARQUES DE FARIA, A P; GUERRA JUNIOR, Gil; MACIEL-GUERRA, AT; New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome, 04/2016, Journal of Pediatric Endocrinology & Metabolism,Vol. 29, Fac. 4, pp.475-479, Londres, Reino Unido, 2016 *
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24.
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SOUZA, L T; SANTOS, A.K.C.R.; SANTOS, S. E.; FELIX, T M; KOWALSKI, T.W.; FERRARI, J.; MONLLEÓ, I. L.; RIBEIRO, E.M.S.; SOUZA, J; CONTE, A. C. F.; ARAUJO, T. K.; LOPES, V L G S; 'Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population', 04/2016, Oral Diseases,Vol. 22, Fac. 3, pp.241-245, Hampshire, Inglaterra, 2016
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25.
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PARAZZI, P. L. F.; MARSOM, F. A. L.; GONÇALVES DE O. RIBEIRO, Maria Ângela; SANTOS SCHIVINSK, Camila Isabel; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; EVALUATION OF CARBON DIOXIDE PRODUCTION DURING SUBMAXIMAL TREADMILL STRESS TESTS IN CYSTIC FIBROSIS PATIENTS, 04/2016, Pediatric Pulmonology,Vol. 51, pp.31-31, Hoboken, NJ, Estados Unidos da América, 2016 *
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26.
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PARAZZI, P. L. F.; MARSOM, F. A. L.; GONÇALVES DE O. RIBEIRO, Maria Ângela; SANTOS SCHIVINSK, Camila Isabel; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; EVALUATION OF THE VENTILATORY EFFICIENCY INDEX (VE/VCO2) AS A PROGNOSIS MARKER IN PATIENTS WITH CYSTIC FIBROSIS, 04/2016, Pediatric Pulmonology,Vol. 51, pp.25-25, Hoboken, NJ, Estados Unidos da América, 2016 *
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27.
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MARSOM, F. A. L.; BERTUZZO, C S; TORO, A. A. D. C.; GONÇALVES DE O. RIBEIRO, Maria Ângela; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; PERFORMANCE OF INFECTION/COLONIZATION CHRONIC OF THE LUNG IN CYSTIC FIBROSIS: A GENETIC MODEL TO ESTABLISH THE CLINICAL VARIABILITY, 04/2016, Pediatric Pulmonology,Vol. 51, pp.19-20, Hoboken, NJ, Estados Unidos da América, 2016 *
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28.
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PARAZZI, P. L. F.; MARSOM, F. A. L.; GONÇALVES DE O. RIBEIRO, Maria Ângela; SANTOS SCHIVINSK, Camila Isabel; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; VOLUMETRIC CAPNOGRAPHY AS A VENTILATORY EVALUATION INSTRUMENT IN CHILDREN AND ADOLESCENTS WITH CYSTIC FIBROSIS, SUBMITTED TO A SIX MINUTES SUBMAXIMAL STRESS TEST, 04/2016, Pediatric Pulmonology,Vol. 51, pp.22-22, Hoboken, NJ, Estados Unidos da América, 2016 *
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29.
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PIOVESANA, L. G.; TORRES, F. R.; AZEVEDO, P. C.; AMARAL, T P; LOPES CENDES, I; D'ABREU, A. C. F.; New mutation and role of putative modifier in, 03/2016, Acta Neurologica Scandinavica,Vol. 1, Copenhagen, Alemanha, 2016
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30.
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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, 03/2016, American Journal of Medical Genetics. Part A,Vol. 170, Fac. 3, pp.766-772, Hoboken, Estados Unidos da América, 2016 *
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31.
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MARTINEZ, A. R. M.; NUNES, M. B.; VASCONCELLOS, I. F.; D'ABREU, A. C. F.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Fatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease, 03/2016, Cerebellum (London. Print),New York, NY, Estados Unidos da América, 2016 *
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32.
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BAPTISTA, M. B.; SCHERRER, D. Z.; STEINER, C. E.; BONADIA, L. C.; Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis, 03/2016, Journal of Inborn Errors of Metabolism & Screening,Vol. 4, pp.1-5, Thousand Oaks, Estados Unidos da América, 2016
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33.
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VIEIRA, A.S.; ROCHA, C S; CARVALHO, B.; PASCOAL, VDB; NORWOOD, B; BAUER, S; ROSENOW, F; GILIOLI, Rovilson; CENDES, Fernando; LOPES CENDES, I; MATOS, A. H. B.; CANTO, A. M.; ROCHA, C.S.; CARVALHO, B. S.; RNA sequencing reveals region-specific molecular mechanisms associated with epileptogenesis in a model of classical hippocampal sclerosis, 03/2016, Scientific Reports,Vol. 6, pp.22416-22420, Londres, Reino Unido, 2016 *
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34.
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VIEIRA, A.S.; MATOS, A. H. B.; CANTO, A. M.; ROCHA, C S; CARVALHO, B.; PASCOAL, V. D. A. B.; NORWOOD, B; BAUER, S; ROSENOW, F; GILIOLI, Rovilson; CENDES, Fernando; LOPES CENDES, I; RNA sequencing reveals region-specific molecular mechanisms associated with epileptogenesis in a model of classical hippocampal sclerosis., 03/2016, Scientific Reports,Vol. 6, Fac. 22416, pp.1-10, Londres, Reino Unido, 2016 *
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35.
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SERVELHERE, K. R.; VASCONCELLOS, I. F.; SAUTE, J A M; MOSCOVICH, M; D'ABREU, A. C. F.; JARDIM, L.B.; TEIVE, H.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations, 02/2016, Cerebellum (London. Print),Vol. 23, Fac. 2, pp.408-411, New York, NY, Estados Unidos da América, 2016 *
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36.
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NESHICH, I. A. P.; MARQUES, L. A.; B. A. LARANJEIRA, Ângelo; YUNES, José Andres; EBERLIN, M.N.; ARRUDA, Paulo; Simultaneous detection of lysine metabolites by a single LC-MS/MS method: monitoring lysine degradation in mouse plasma, 02/2016, Springerplus,Vol. 5, Fac., pp.1-10, Heidelberg, Alemanha, 2016 *
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37.
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NESHICH, I. A. P.; MARQUES, L. A.; B. A. LARANJEIRA, Ângelo; YUNES, José Andres; EBERLIN, M.N.; MACKENZIE, A. E.; ARRUDA, Paulo; Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE), 01/2016, Biochimica et Biophysica Acta. Molecular Basis of Disease,Vol. 35, pp.1-10, Amsterdam, Holanda, 2016 *
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38.
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LOPES, C. M.; PEREIRA, TC; DOGINI, Danyella Barbosa; GILIOLI, Rovilson; LOPES CENDES, I; Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease, 01/2016, Brazilian Journal of Medical and Biological Research (Impresso),Vol. 49, Fac. 12, pp.1-8, Ribeirao Preto, SP, Brasil, 2016
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39.
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ARAUJO, T. K.; SECOLIN, R.; SOUZA, L T; FONTES, M. I. B.; SOUZA, J; RIBEIRO, E M; XAVIER, A C; AUGUSTO DE REZENDE, Adriana; SIMIONI, Milena; SANTOS, A.K.C.R.; SANTOS, S. E.; LOPES, V L G S; FELIX, T M; BARROS FONTES, M.I.; MONLLEÓ, I. L.; JOSIANE SOUZA, ; CONTE, A. C. F.; A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population, 01/2016, Journal of Cranio-Maxillo-Facial Surgery,Vol. 44, Fac. 1, pp.16-20, Philadelphia, Estados Unidos da América, 2016
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40.
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BRASILEIRO, L. F.; DIAS PEREIRA, Luis Antonio Violin; MIRANDA, M. L.; FREITAS, Leandro Luiz Lopes de; MARQUES DE FARIA, A P; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant, 01/2016, Journal of Pediatric Endocrinology & Metabolism,Vol. 29, pp.233-236, Londres, Reino Unido, 2016 *
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41.
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PINA NETO, J.M.; SERAO, C.L.C.; SANSEVERINO, M T V; FACCINI, L.S.; WANDERLEY, H.Y.C.; CERNACH, M C S P; EL HUSNY, A.S.; GROMPONE, M.A.; SANSEVERINO, M T V; RIBEIRO, E M; FEITOSA, I.; HOROVITZ, D. D. G.; CAVALCANTI, D P; PESSOA, A.C.F.; DORIQUI, M.J.R.; NÉRI, J. I. C. F.; Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015, 01/2016, MMWR (Print),Vol. 65, Fac. 3, pp.59-62, Atlanta, Estados Unidos da América, 2016
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42.
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REZENDE, T. J. R.; SILVA, C. B.; YASUDA, C. L.; CAMPOS, B. M.; D'ABREU, A. C. F.; CENDES, Fernando; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia, 01/2016, Movement disorders,Vol. 31, Fac. 1, pp.70-78, New York, Estados Unidos da América, 2016 *
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43.
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GILIOLI, Rovilson; CENDES, Fernando; LOPES CENDES, I; MATOS, A. H. B.; CANTO, A. M.; ROCHA, C.S.; CARVALHO, B.; PASCOAL, VDB; NORWOOD, B; BAUER, S; ROSENOW, F; VIEIRA, A. S.; RNA sequencing reveals region-specific molecular mechanisms associated with epileptogenesis in a model of classical hippocampal sclerosis, 01/2016, Scientific Reports,Vol. 6, pp.22416-22419, Londres, Reino Unido, 2016 *
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44.
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SIMIONI, Milena; MONLLEÓ, I. L.; QUEIROZ, C M C; GAZZANEO, I.F.P>; NASCIMENTO, D L L; OMENA FILHO, R.L; PIVETA, C. S. C.; DE MELLO, Maricilda Palandi; LOPES, V L G S; A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis, 01/2016, Sexual Development,Vol. 10, Fac. 1, pp.23-27, Basel, Suiça, 2016 *
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* Esta produção está associada também a outros órgãos
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