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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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STEINER, C. E.; As controvérsias sobre as doenças raras, 12/2017, Boletim da FCM,Vol. II, pp.2-2, Campinas, SP, Brasil, 2017
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2.
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MARQUES DE FARIA, A P; Deficiência intelectual e a política de atenção integral a pessoas com doenças raras, 12/2017, Boletim da FCM,Vol. II, pp.12-13, Campinas, SP, Brasil, 2017
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Circulação Internacional
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AZEVEDO, P. C.; GUIMARÃES, R. P.; PICCININ, C. C.; PIOVESANA, L. G.; CAMPOS, L. S.; ZUIANI, J. R.; TAMASHIRO, E; AMATO-FILHO, Augusto Celso Scarparo; CENDES, Fernando; LOPES CENDES, I; D'ABREU, A. C. F.; Cerebellar Gray Matter Alterations in Huntington Disease: A Voxel-Based Morphometry Study, 12/2017, Cerebellum (London. Print),Vol. 16, Fac. 5-6, pp.923-928, New York, NY, Estados Unidos da América, 2017 *
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2.
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ALMEIDA, VC; AVANSINI, S. H.; BORGES, M.; TORRES, F. R.; ROGERIO, F.; CARVALHO, B. S.; CENDES, Fernando; LOPES CENDES, I; SOMATIC MUTATIONS ARE ABUNDANT IN FOCAL CORTICAL DYSPLASIA, 12/2017, Epilepsia (Copenhagen),Vol. 58, Fac., pp.30-30, Pennsylvania, Estados Unidos da América, 2017 *
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3.
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AMORIM, R.; DE ARAUJO, M.; VALERO, J.; LOPES CENDES, I; PASCOAL, V. D. A. B.; MALVA, J.O.; FERNANDES, M.J.S.; Silencing of P2X7R by RNA interference in the hippocampus can attenuate morphological and behavioral impact of pilocarpine-induced epilepsy, 12/2017, Purinergic Signalling,Vol. 13, Fac. 4, pp.467-478, Dordrecht, Holanda, 2017
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4.
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LEME CALAIS, Flávia; SMITH, LA; RAPONI, M,; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; BARALLE, D.; A study of splicing mutations in disorders of sex development, 12/2017, Scientific Reports,Vol. 7, Fac. 1, pp.356-358, Londres, Reino Unido, 2017 *
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5.
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BARBOSA, F B; SIMÕES, A. L.; CAGNIN, N F; SIMIONI, Milena; FARIAS, A.A.S.; TORRES, F. R.; MOLCK, M. C.; ARAUJO, T. K.; LOPES, V L G S; DONADI, Eduardo Antônio; Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array, 11/2017, Annals of Human Genetics,Vol. 81, Fac. 6, pp.225-233, Chichester, Reino Unido, 2017
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6.
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EDWARD POGUE, Robert; CAVALCANTI, D P; SHANKER, Shreya; ANDRADE, Rosangela V; AGUIAR, Lana R.; DE CARVALHO, Juliana L.; COSTA, Fabrício F.; Rare genetic diseases: update on diagnosis, treatment and online resources, 11/2017, Drug Discovery Today,London, Reino Unido, 2017
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7.
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FACCHINI, Gustavo; IGNARRO, Raffaela Silvestre; VIEIRA, A. S.; CASTILHO, Roger Frigério; LOPES CENDES, I; ROGERIO, F.; SILVA, E. R.; Toxic effects of phytol and retinol on human glioblastoma cells are associated with modulation of cholesterol and fatty acid biosynthetic pathways, 11/2017, Journal of Neuro-Oncology,Vol. 136, Fac. 3, pp.435-807, New York, NY, Estados Unidos da América, 2017 *
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8.
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DENTINI, P.; MARSOM, F. A. L.; BONADIA, L. C.; BERTUZZO, C S; RIBEIRO, Antonio Fernando; LEVY, Carlos Emílio; RIBEIRO, José Dirceu; Burkholderia cepacia complex in cystic fibrosis in a Brazilian reference center, 11/2017, Medical Microbiology and Immunology.,Vol. 206, Fac. 6, pp.447-461, SP, Brasil, 2017 *
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9.
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PAGOTTO, A. G. F.; MARSOM, F. A. L.; GOMEZ, C. C. S.; SERVIDONI, M. F. C. P.; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; Thirty Years of Sweat Chloride Testing at One Referral Center, 10/2017, Frontiers in Pediatrics,Vol. 5, Fac., pp.1-16, Lausanne, Suiça, 2017 *
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10.
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ALVIM, M. K. M.; YASUDA, C. L.; MORITA, M. E.; COAN, A. C.; BARBOSA,, R.; VIEIRA, Elza Liliana Mazzuca; ROCHA, Noeli Pereira; LOPES CENDES, I; TEIXEIRA, A. L.; CENDES, Fernando; The relationship between blood serum BDNF and seizure frequency in temporal lobe epilepsy patients, 10/2017, Journal of the Neurological Sciences,Vol. 381, Fac., pp.334-334, Amsterdam, Holanda, 2017 *
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11.
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MOLCK, M. C.; SIMIONI, Milena; VIEIRA, T. A. P.; SGARDIOLI, I. C.; MONTEIRO, F. P. M.; JOSIANE SOUZA, ; FELIX, T M; MONLLEÓ, I. L.; CONTE, A. C. F.; LOPES, V L G S; Genomic imbalances in syndromic congenital heart disease, 09/2017, Jornal de Pediatria (Impresso),Vol. 93, Fac. 5, pp.497-507, Rio de Janeiro, RJ, Brasil, 2017
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12.
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MARTINS JUNIOR, C. R.; MARTINEZ, A. R. M.; REZENDE, T. J. R.; BRANCO, L. M. T.; PEDROSO, J.L.; GRAZIANI POVOAS BARSOTTINI, ORLANDO; LOPES CENDES, I; FRANCA JUNIOR, M. C.; Spinal Cord Damage in Spinocerebellar Ataxia Type 1, 08/2017, Cerebellum (London. Print),Vol. 16, Fac. 4, pp.792-796, New York, NY, Estados Unidos da América, 2017 *
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13.
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PEREIRA, S. V.; RIBEIRO, José Dirceu; BERTUZZO, C S; MARSOM, F. A. L.; Association of clinical severity of cystic fibrosis with variants in the SLC gene family ( SLC6A14 , SLC26A9 , SLC11A1 and SLC9A3 ), 08/2017, Gene (Amsterdam),Vol. 629, pp.117-126, Medison, Estados Unidos da América, 2017 *
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14.
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REZENDE, T. J. R.; MARTINEZ, A. R. M.; VASCONCELLOS, I. F.; TAKAZAKI, K. A. G.; PEDROSO, J.L.; GRAZIANI POVOAS BARSOTTINI, ORLANDO; LOPES CENDES, I; CENDES, Fernando; FARIA, A. V.; FRANCA JUNIOR, M. C.; Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI, 08/2017, Human Brain Mapping (Print),Vol. 38, Fac. 8, pp.4157-4168, Hoboken, Estados Unidos da América, 2017 *
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BILLIS, Athanase; FREITAS, Leandro Luiz Lopes de; COSTA, L. B. E.; ANGELIS, C. M.; CARVALHO, Kelson Roberto; MAGNA, L A; FERREIRA, Ubirajara; Does index tumor predominant location influence prognostic factors in radical prostatectomies?, 08/2017, International Brazilian Journal of Urology (Impresso),Vol. 43, Fac. 4, pp.686-697, Rio de Janeiro, RJ, Brasil, 2017 *
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16.
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BARUZZI, Maria J. Mastellaro; DE AZEVEDO BARROS FILHO, Antonio; CORREA RIBEIRO, Raul; OLIVEIRA FILHO, A. G.; CONTE, A. L. O. S.; CARDINALLI, Izilda; MIRANDA, E. C. M.; AGUIAR, Aguiar, Simone; BRANDALISE, Silvia Regina; YUNES, José Andres; Adrenocortical tumors associated with the TP53 p.R337H germline mutation can be identified during child-care consultations, 08/2017, Jornal de Pediatria (Impresso),Vol. x, Rio de Janeiro, RJ, Brasil, 2017 *
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17.
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ANDRADE, J. G. R.; ANDRADE, Liliana A. Lucci de; GUERRA JUNIOR, Gil; MACIEL-GUERRA, AT; 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue, 08/2017, Journal of Pediatric Endocrinology & Metabolism,Vol. 30, Fac. 8, pp.11-904, Londres, Reino Unido, 2017 *
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18.
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ANDRADE, J. G. R.; ANDRADE, Liliana A. Lucci de; GUERRA JUNIOR, Gil; MACIEL-GUERRA, AT; 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue, 08/2017, Journal of Pediatric Endocrinology & Metabolism,Vol. 30, Fac. 8, pp.899-904, Londres, Reino Unido, 2017 *
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19.
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FERREIRA, A. C. M.; MARSOM, F. A. L.; ANTONELLI, M.; BERTUZZO, C S; LEVY, Carlos Emílio; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; Hypertonic Saline as a Useful Tool for Sputum Induction and Pathogen Detection in Cystic Fibrosis, 08/2017, Lung (New York),Vol. 195, Fac. 4, pp.431-439, New York, Estados Unidos da América, 2017 *
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20.
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SGARDIOLI, I. C.; COPELLI, M. M.; MONTEIRO, F. P. M.; SANTOS, A. P.; MENDES, E. L.; VIEIRA, T. A. P.; LOPES, V L G S; Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases, 08/2017, Molecular Syndromology,Vol. 8, Fac. 5, pp.244-252, Basel, Suiça, 2017
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21.
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SILVA, V. R.; SECOLIN, R.; VEMUGANTI, R.; LOPES CENDES, I; HAZELL, A. S.; Acute liver failure is associated with altered cerebral expression profiles of long non-coding RNAs, 08/2017, Neuroscience Letters (Print),Vol. 656, Fac., pp.58-64, LIMERICK, Irlanda (Eire), 2017
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22.
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VILANY, L. N. N.; REZENDE, T. J. R.; PIOVESANA, L. G.; CAMPOS, L. S.; AZEVEDO, P. C.; TORRES, F. R.; FRANCA JUNIOR, M. C.; AMATO-FILHO, Augusto Celso Scarparo; LOPES CENDES, I; CENDES, Fernando; D'ABREU, A. C. F.; Exploratory structural assessment in craniocervical dystonia: Global and differential analyses, 08/2017, PLoS ONE,Vol. 12, Fac. 8, pp.1-14, San Francisco, Estados Unidos da América, 2017 *
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23.
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GUERRA JUNIOR, Gil; ANDRADE, Kleber C.; BARCELOS, Irene Harumi K.; MACIEL-GUERRA, AT; Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development, 08/2017, Sexual Development,Vol. 2017, pp.1-5, Basel, Suiça, 2017 *
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24.
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REZENDE, L. M.; LIMA, C. S. P.; BERTUZZO, C S; Corrigendum to “Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer” [Gene 608C (2017) 73–78], 07/2017, Gene (Amsterdam),Vol. 619, pp.76-76, Medison, Estados Unidos da América, 2017
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25.
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LAZZARINI FURLAN, Larissa; BERTUZZO, C S; RIBEIRO, José Dirceu; SALOMÃO JUNIOR, João Batista; SILVA SOUZA, Dorotéia Rossi; MARSOM, F. A. L.; Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis, 07/2017, Jornal de Pediatria (Impresso),Vol. 93, pp.639-648, Rio de Janeiro, RJ, Brasil, 2017 *
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26.
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FÁBIO TADEU ARROJO MARTINS, ; MIRANDA, P. M. A. D.; FERNANDES, M. S. A.; MACIEL-GUERRA, AT; SARTORATO, Edi Lúcia; Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON), 07/2017, Molecular Vision,Vol. 23, pp.495-503, Georgia, Estados Unidos da América, 2017 *
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27.
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RABELO, A. G. B.; SECOLIN, R.; LOPES CENDES, I; CENDES, Fernando; BALTHAZAR, M. L. F.; TEIXEIRA, C. V. L.; MAGALHÃES, T. N. C.; CASSANI, A.F.M.K.; AMATO-FILHO, Augusto Celso Scarparo; JOAQUIM, H.P.G.; TALIB, L; ORESTES VICENTE FORLENZA, ; RIBEIRO, P. A.; FORLENZA, Orestes; Is cerebral microbleed prevalence relevant as a biomarker in amnestic mild cognitive impairment and mild Alzheimer?s disease?, 07/2017, The Neuroradiology Journal,Vol. 20, pp.1-10, London, Reino Unido, 2017 *
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28.
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ARAUJO, T. K.; MENDES, E. L.; SANTOS, A.C.P; MOLCK, M. C.; VOLPE, R. M.; LOPES, V L G S; ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature, 06/2017, Molecular Syndromology,Vol. 8, Fac. 4, pp.201-205, Basel, Suiça, 2017
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29.
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SIMIONI, Milena; ARTIGUENAVE, F. M.; MEYER, V.; SGARDIOLI, I. C.; VIGUETTI CAMPOS, Nilma Lúcia; MONLLEÓ, I. L.; MACIEL-GUERRA, AT; STEINER, C. E.; LOPES, V L G S; Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes, 06/2017, Molecular Syndromology,Vol. 8, Fac. 4, pp.187-194, Basel, Suiça, 2017
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30.
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SILVEIRA, K. C.; MORENO, Carolina Araujo; CAVALCANTI, D P; Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122, 05/2017, American Journal of Medical Genetics. Part A,Vol. 173, Fac. 5, pp.1186-1189, Hoboken, Estados Unidos da América, 2017
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31.
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SANCHES GUARAGNA, Mara; GERVASIO DE BRITTO, Anna Cristina; BELANGERO, Vera Maria Santoro; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; Commentary: NPHS2 mutations account for only 15% of nephrotic syndrome cases, 05/2017, Journal of Rare Diseases Research & Treatment,Vol. 2, pp.49-51, Michigan, Estados Unidos da América, 2017 *
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32.
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MOLCK, M. C.; SIMIONI, Milena; VIEIRA, T. A. P.; MONTEIRO, F. P. M.; LOPES, V L G S; A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4, 05/2017, Molecular Syndromology,Vol. 8, Fac. 3, pp.161-167, Basel, Suiça, 2017
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33.
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VASCONCELLOS, I. F.; PROTTA, J. R. M.; MARTINEZ, A. R. M.; NUCCI, Anamarli; LOPES CENDES, I; FRANCA JUNIOR, M. C.; INFLAMMATORY DEMYELINATING NEUROPATHY HERALDING ACCELERATED CHEDIAK-HIGASHI SYNDROME, 05/2017, Muscle & Nerve (Print),Vol. 55, Fac. 5, pp.756-760, New York, Estados Unidos da América, 2017 *
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34.
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LOPES, V L G S; 22q11.2 deletion syndrome in diverse populations, 04/2017, American Journal of Medical Genetics. Part A,Vol. 173, Fac. 4, pp.879-888, Hoboken, Estados Unidos da América, 2017
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35.
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LOPES, V L G S; Cover Image, Volume 173A, Number 4, April 2017, 04/2017, American Journal of Medical Genetics. Part A,Vol. 173, Fac. 4, Hoboken, Estados Unidos da América, 2017
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36.
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CAMPO, Miguel del; FEITOSA, Ian M.L.; RIBEIRO, E M; HOROVITZ, D. D. G.; PESSOA, André L. S.; FRANÇA, Giovanny V. A.; -ALIX, Alfredo García; DORIQUI, M.J.R.; WANDERLEY, H.Y.C.; SANSEVERINO, M T V; NÉRI, J. I. C. F.; PINA NETO, J.M.; SANTOS, Emerson Silva; VERÇOSA, Islane; CERNACH, M C S P; DE MEDEIROS, Paula Frassinetti Vasconcelos; KERBAGE, Sáile Cavalcante; SILVA, Andre A.; DER LINDEN, Vanessa Van; MARTELLI, Cecília M.T.; CORDEIRO, Marli Tenório; LUIZ VIANNA, Fernanda Sales; VICTORA, Cesar Gomes; CAVALCANTI, D P; FACCINI, L.S.; The phenotypic spectrum of congenital Zika syndrome, 04/2017, American Journal of Medical Genetics. Part A,Vol. 173, Fac. 4, pp.841-857, Hoboken, Estados Unidos da América, 2017
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37.
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AVANSINI, S. H.; LIMA, B P S; SECOLIN, R.; SILVA, MS; COAN, A. C.; VIEIRA, A. S.; TORRES, F. R.; CARVALHO, B. S.; ALVIM, M. K. M.; MORITA, M. E.; YASUDA, C. L.; SILVA, L. R. P.; DOGINI, Danyella Barbosa; ROGERIO, F.; CENDES, Fernando; LOPES CENDES, I; MicroRNA hsa-miR-134 is a circulating biomarker for mesial temporal lobe epilepsy, 04/2017, Cerebellum (London. Print),Vol. 12, Fac. 4, pp.1-11, New York, NY, Estados Unidos da América, 2017 *
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38.
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SANTOS JÚNIOR, A.; TAMASCIA, M. L.; LORENZETTI, R.; DELLA TORRE, Osmar Henrique; PAES, L. A.; FONTANA, T. S.; FERREIRA NETO, A. P.; HENRIQUES, T. B.; HYSLOP, S.; DE MELLO, Maricilda Palandi; CELERI, Eloisa H.R. Valler; DALGALARRONDO, Paulo; GUERRA JUNIOR, Gil; Serum Concentration of Risperidone and Adverse Effects in Children and Adolescents, 03/2017, Journal of child and adolescent psychopharmacology,Vol. 27, Fac. 2, pp.211-212, New Rochelle, Estados Unidos da América, 2017 *
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39.
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KUBASKI, F.; BRUSIUS-FACCHIN, A.C.; MASON, R W; PATEL, PN; BURIN, M.G.; MICHELIN-TIRELLI, K; KESSLER, R.; BENDER, F.; LEISTNER-SEGAL, S.; MORENO, Carolina Araujo; CAVALCANTI, D P; GIUGLIANI, R.; TOMATSU, S.; Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII, 03/2017, Prenatal Diagnosis (Print),Vol. 82, Fac. 2, pp.249-251, West Sussex, Reino Unido, 2017
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40.
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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 THAP1 mutation and role of putative modifier in TOR1A, 02/2017, Acta Neurologica Scandinavica,Vol. 135, Fac. 2, pp.183-188, Copenhagen, Alemanha, 2017 *
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41.
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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, 02/2017, Cerebellum (London. Print),Vol. 16, Fac. 1, pp.118-121, New York, NY, Estados Unidos da América, 2017 *
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42.
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LEISTNER-SEGAL, S.; SARAIVA-PEREIRA, Maria Luiza; HELIO A G TEIVE, ; MARTINEZ, A. R. M.; MORO, A.; VASCONCELLOS, I. F.; MARTINS JUNIOR, C. R.; MOSCOVICH, M; ARRUDA, W.O.; PEDROSO, J. C. L.; D'ABREU, A. C. F.; JARDIM, Laura B.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; MUNHOZ, R.P.; Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes, 02/2017, Cerebellum (London. Print),Vol. 16, Fac. 1, pp.253-256, New York, NY, Estados Unidos da América, 2017 *
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43.
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FARIA, A. G.; BRIOSCHI MORAIS, Lucas; BERTUZZO, C S; SAKANO, E.; PASCHOAL, Ilma Aparecida; PEREIRA, M. C.; HESSEL, Gabriel; LEVY, Carlos Emílio; TORO, A. A. D. C.; DE OLIVEIRA PEIXOTO, Andressa; NOGUEIRA, R. J. N.; RIBEIRO, Antonio Fernando; RIBEIRO, José Dirceu; PAGOTTO, A. G. F.; SANTOS, M. C. R.; DA COSTA-PINTO, Elizete Ap. Lomazi; MARSOM, F. A. L.; GOMEZ, C. C. S.; GONÇALVES DE O. RIBEIRO, Maria Ângela; SERVIDONI, M. F. C. P.; GOTO, M. M. F.; Erratum to: 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?, 02/2017, Diagnostic Pathology,Vol. 12, Fac. 1, pp.22-22, London, Reino Unido, 2017 *
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44.
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QUARESMA, P. G. F.; WEISSMANN, L.; ZANOTTO, T. M.; SANTOS, A.C.; MATOS, A. H. B.; FURIGO, I.C.; SIMABUCO, F. M.; DONATO, J. L.; BITTENCOURT, Jackson C.; LOPES CENDES, I; PRADA, P. O.; Cdc2-like kinase 2 in the hypothalamus is necessary to maintain energy homeostasis, 02/2017, International Journal of Obesity,Vol. 41, Fac. 2, pp.268-278, Basingstoke, Inglaterra, 2017 *
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45.
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MENDES, E. L.; SANTOS, Ana Paula dos; VIGUETTI CAMPOS, Nilma Lúcia; VIEIRA, T. A. P.; LOPES, V L G S; A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature, 01/2017, American Journal of Medical Genetics. Part A,Vol. 173, Fac. 1, pp.143-150, Hoboken, Estados Unidos da América, 2017
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46.
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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), 01/2017, Biochimica et Biophysica Acta. Molecular Basis of Disease,Vol. 1863, Fac. 1, pp.121-128, Amsterdam, Holanda, 2017 *
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47.
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SANCHES GUARAGNA, Mara; GERVASIO DE BRITTO, Anna Cristina; MACIEL-GUERRA, AT; BELANGERO, Vera Maria Santoro; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; NPHS2 Mutations: A Closer Look to Latin American Countries, 01/2017, BioMed Research International,Vol. 2017, Fac. 1, pp.1-6, New York, Estados Unidos da América, 2017 *
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48.
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REZENDE, L. M.; MARSOM, F. A. L.; LIMA, C. S. P.; BERTUZZO, C S; Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women?, 07/2017, Clinical Breast Cancer,Vol. 17, Fac. 4, New York, NY, Estados Unidos da América, 2017 *
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49.
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VASCONCELLOS, I. F.; PROTTA, J. R. M.; MARTINEZ, A. R. M.; LOPES CENDES, I; FRANCA JUNIOR, M. C.; A new phenotype associated with homozygous mutations: complicated spastic paraplegia, 01/2017, European Journal of Neurology (Print),Vol. 24, Fac. 1, pp.3-4, Oxford, Reino Unido, 2017 *
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50.
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MARSOM, F. A. L.; BERTUZZO, C S; RIBEIRO, José Dirceu; Personalized or Precision Medicine? The example of Cystic Fibrosis, 01/2017, Frontiers in Pharmacology,Vol. 8, Fac. 390, pp.1-8, Lausanne, Suiça, 2017 *
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51.
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BRAGUNDE, Alfonso Eduardo A.; DE OLIVEIRA RAPELLI, Therezinha; SCHLODTMANN, P G; CORREA, Ester; FERREIRA DE MIRANDA, Maria Luisa; DOS REIS, Marcelo Conrado; JOSÉ VICENTE B. DE PIERI, ; ARNS, C. W.; RIBEIRO, José Dirceu; MARSOM, F. A. L.; BERTUZZO, C S; SANTIAGO BASTOS, Juliana Cristina; BARACAT, Emilio Carlos Elias; BRANDÃO, M. B.; TRESOLDI, Antonia Teresinha; NEVES, M. T.; ALMEIDA, C. C. B.; Association between single nucleotide polymorphisms in TLR4 , TLR2 , TLR9 , VDR , NOS2 and CCL5 genes with acute viral bronchiolitis, 01/2017, Gene (Amsterdam),Vol. 1, pp.1-1, Medison, Estados Unidos da América, 2017 *
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52.
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REZENDE, L. M.; LIMA, C. S. P.; MARSOM, F. A. L.; BERTUZZO, C S; Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer, 04/2017, Gene (Amsterdam),Vol. 608, pp.73-78, Medison, Estados Unidos da América, 2017 *
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53.
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MACIEL-GUERRA, AT; DOS SANTOS, A.P.; FABBRI, H. C.; PIVETA, C. S. C.; ANDRADE, J. G. R.; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; PHENOTYPE-GENOTYPE CORRELATION IN NR5A1 GENE REMAINS ELUSIVE: HETEROZYGOSIS FOR P.D293N MUTATION ALSO LEADS DSD PHENOTYPE, 01/2017, Hormone Research in Paediatrics,Vol. 88, Fac., pp.202-203, Basel, Suiça, 2017 *
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54.
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MAURER-MORELLI, C. V.; ROCHA, C. S.; DOS SANTOS, R. A.; CORBI, Samia C. T.; NEPOMUCENO, R.; CIRELLI, T; TAKAHASHI, Catarina Satie; BASTOS, A.S.; ORRICO, Silvana Regina Peres; SCAREL, Raquel Mantuaneli; Expression Profile of Genes Potentially Associated with Adequate Glycemic Control in Patients with Type 2 Diabetes Mellitus, 01/2017, Journal of Diabetes Research (Online),Vol. 2017, Fac. 4, pp.1-9, Cairo, Egito, 2017
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SANCHES GUARAGNA, Mara; GERVASIO DE BRITTO, Anna Cristina; BELANGERO, Vera Maria Santoro; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; NPHS2 mutations account for only 15% of nephrotic syndrome cases, 01/2017, Journal of Rare Diseases Research & Treatment,Vol. 2, pp.49-51, Michigan, Estados Unidos da América, 2017 *
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KUBASKI, F.; MASON, R.P.; BURIN, Maira; MICHELIN-TIRELLI, K; KESSLER, R.; BENDER, F.; BRUSIUS-FACCHIN, A.C.; LEISTNER-SEGAL, S.; MORENO, Carolina Araujo; CAVALCANTI, D P; GIUGLIANI, R.; TOMATSU, S.; LC/MS/MS measurement of glycosaminoglycans in amniotic fluid of a MPS VII fetus, 01/2017, Molecular Genetics and Metabolism (Print),Vol. 120, Fac. 1-2, pp.77-77, Orlando, Estados Unidos da América, 2017 *
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APPENZELLER, Simone; TORRES, F. R.; CENDES, Fernando; ARAUJO, T. K.; FONTES, M. I. B.; DOS SANTOS, A.P.; LOPES CENDES, I; MONLLEÓ, I. L.; LOPES, V L G S; 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation, 01/2017, Molecular Syndromology,Vol. 8, Fac. 1, pp.36-41, Basel, Suiça, 2017 *
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BILEVICIUS, Elizabeth; LOPES CENDES, I; SECOLIN, R.; CARVALHO, B. S.; YASUDA, C. L.; ALVIM, M. K. M.; SANTOS, R. O.; MAURER-MORELLI, C. V.; CENDES, Fernando; A Prediction Algorithm for Drug Response in Patients with Mesial Temporal Lobe Epilepsy Based on Clinical and Genetic Information, 01/2017, PLoS ONE,Vol. 12, Fac. 1, San Francisco, Estados Unidos da América, 2017 *
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SANCHES GUARAGNA, Mara; ANDRADE, J. G. R.; CARLI, B.F.; BELANGERO, Vera Maria Santoro; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome, 01/2017, Sexual Development,Vol. 11, pp.34-39, Basel, Suiça, 2017 *
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FRANCA, M. M.; LERARIO, A.M.; FUNARI, M.F.A.; NISHI, M.Y.; NARCIZO, A.M.; DE MELLO, Maricilda Palandi; GUERRA JUNIOR, Gil; MACIEL-GUERRA, AT; BILHARINHO DE MENDONÇA, Berenice; A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family, 01/2017, Sexual Development,Vol. 11, Fac. 3, pp.137-142, Basel, Suiça, 2017 *
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PETROLI, R. J.; HIORT, Olaf; D STRUVE, ; GESING, J.K.; SOARDI, F. C.; SPÍNOLA-CASTRO, A. M.; MELO, K. F. S.; PRADO ARNHOLD, Ivo Jorge; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; WERNER, R; DE MELLO, Maricilda Palandi; Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome, 01/2017, Sexual Development,Vol. 11, Fac. 5-6, pp.238-247, Basel, Suiça, 2017 *
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GUARAGNA, M. S.; ANDRADE, J. G. R.; CARLI, B.F.; BELANGERO, Vera Maria Santoro; MACIEL-GUERRA, AT; GUERRA JUNIOR, Gil; DE MELLO, Maricilda Palandi; WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome, 01/2017, Sexual Development,Vol. 11, Fac. 1, pp.34-39, Basel, Suiça, 2017 *
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* Esta produção está associada também a outros órgãos
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