Produção Científica

Costa-Riquetto AD, de Santana LS, Franco PC, Jr ACS, Martio AE, Lisboa HRK, Kohara SK, Teles MG. Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil. Clin Genet. 2023 Apr;103(4):434-447.

Santomauro AC Jr, Magalhães ÁLF, Motta FT, de Santana LS, Franco PC, de Freitas SM, Sanchez JJD, Costa-Riquetto AD, Teles MG. The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age. Diabetol Metab Syndr. 2023 Feb 6;15(1):15.

Campos Franco P, Santos de Santana L, Dantas Costa-Riquetto A, Santomauro Junior AC, Jorge AAL, Gurgel Teles M. Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment. Diabetes Res Clin Pract. 2022 May;187:109875. 

Costa-Riquetto AD, Santana LS, Caetano LA, Lerário AM, Correia-Deur JEM, Bertola DR, Kim CA, Nery M, Jorge AAL, Teles MG. Targeted massively parallel sequencing for congenital generalized lipodystrophy. Arch Endocrinol Metab. 2021 May 18;64(5):559-566.

Magalhaes ALF, Motta FT, Alcântara AEE, Franco PC, Cabral HR, Costa-Riquetto AD, Santana LS, Teles MG. Probability of MODY in a cohort of 209 Brazilians with young onset diabetes. Pediatr Diabetes. 2019 Oct 29;20(S28):162. 

Santana L, Costa-Riquetto AD, Franco PC, Alcântara AEE, Teles MG. Identification of novel variants in genes associated with neonatal diabetes in a Brazilian cohort. Pediatr Diabetes. 2019 Oct 29;20(S28):175.

Santana L, Caetano L, Costa-Riquetto A, Franco P, Dotto R, Reis A, Weinert L, Silveiro S, Vendramini M, do Prado F, Abrahão G, de Almeida AG, Tavares MG, Gonçalves WR, Santomauro-Junior A, Halpern B, Jorge A, Nery M, Teles M. Targeted sequencing identifies novel variants in common and rare MODY genes. Mol Genet Genomic Med. 2019;(in press).

Magalhaes ALF, Motta FT, Alcântara AEE, Franco PC, Cabral HR, Costa RHS, Costa-Riquetto AD, Santana LS, Teles MG. Aplicação do MODY Probability Calculator em coorte de 209 brasileiros com diagnóstico de diabetes mellitus abaixo de 35 anos. In: Congresso Brasileiro de Atualização em Endocrinologia e Metabologia. Florianópolis: Archives of Endocrinology and Metabolism; 2019. p. S9. 

Dotto RP, Santana LS de, Lindsey SC, Caetano LA, Franco LF, Moisés RCMS, Sa JR, Nishiura JL, Teles MG, Heilberg IP, Dias-da-Silva MR, Giuffrida FMA, Reis AF. Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. Arch Endocrinol Metab. 2019 Apr 26;63(3):250–7. 

Montenegro RM, Costa-Riquetto AD, Fernandes VO, Montenegro APDR, Santana LS, Jorge AAL, Karbage LBAS, Aguiar LB, Carvalho FHC, Teles MG, D'Alva CB. Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred. Frontiers in Endocrinology; 2018 9 (August): 1–9.

Teles MG, Gomes MM, Santana LS, Caetano LA, Costa-Riquetto AD, Alcântara AEE. Painel Genético Identifica Indivíduo Com Maturity Onset Diabetes of the Young (MODY) 10. In Archives of Endocrinology and Metabolism; 2018 Aug; 62:S82. Belo Horizonte - MG - Brazil.

Pereira HVC, Santana LS, Alencar NP, Alcântara AEE, Costa-Riquetto AD, Caetano LA, Teles MG. Prevalência de Mutações de Novo Em Indivíduos Com MODY-GCK. In Archives of Endocrinology and Metabolism; 2018 Aug; 62:S5. Belo Horizonte - MG - Brazil.

Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A. A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. The Journal of Clinical Endocrinology & Metabolism; 2018 Mar;103(3):1005–1014.

Caetano LA, Santana LS, Costa-Riquetto AD, Lerario AM, Nery M, Nogueira GF, et al. PDX1-MODY and dorsal pancreatic agenesis: new phenotype of a rare disease. Clin Genet; 2018 Fev;93(2):382–386.

Santana LS, Caetano LA, Costa-Riquetto AD, Quedas E, Nery M, Collett-Solberg P, et al. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families. Clin Genet; 2017 Out;92(4):388–396.

Giuffrida FM, Moises RS, Weinert LS, Calliari LE, Manna TD, Dotto RP, Franco LF, Caetano LA, Teles MG, Lima RA, Alves C, Dib SA, Silveiro SP, Dias-da-Silva MR, Reis AF. Maturity-Onset Diabetes of the Young (MODY) in Brazil: Establishment of a National Registry and Appraisal of Available Genetic and Clinical Data. Diabetes Res Clin Pract; 2017 Jan;123:134-142.

Riquetto ADC, Caetano LA, Santana LS, Lerário AM, Nery M, Jorge AAL, Teles MG. Late atypical IPEX syndrome diagnosis in a 26-year male with neonatal diabetes. Pediatric Diabetes October 2016; 17 (Suppl 24):59. 

Caetano LA, Santana LS, Lerario AM, Nery M, Jorge AAL, Teles MG. Next-generation sequencing can improve MODY diagnosis. Endocrine Reviews 2016, 37(Suppl 2):Sat-657. 

Caetano LA, Santana LS, Lerário AM, Nery M, Jorge AAL, Teles MG. Next-generation sequencing in Brazilian MODY patients: a pilot study. Diabetol Metab Syndr. BioMed Central Ltd; 2015 Nov 11;7(Suppl 1):A257. 

Santana LS, Caetano LA, Nery M, Jorge AAL, Teles MG. MODY screening: a new center for molecular genetic diagnosis in Brazil. Diabetol Metab Syndr. BioMed Central Ltd; 2015 Nov 11;7(Suppl 1):A213. 

Riquetto ADC, Santana LS, Caetano LA, Lerário AM, Correia-Deur J, Nery M, et al. Detection of congenital generalized lipodystrophy mutations by next-generation sequencing: time for a new approach. Diabetol Metab Syndr. BioMed Central Ltd; 2015 Nov 11;7(Suppl 1):A260. 

Caetano LA, Santana LS, Quedas E, Nery M, Jorge AAL, Teles MG. Novel Mutations in GCK and HNF1A-MODY in a Large Cohort of Brazilian Diabetic Families. Diabetes 2015, 64(Suppl 1):A396. 

Caetano LA, Santana LS, Silveira Tavares F, Alves do Prado F, Quedas E, Nery M, et al. Nova mutação no gene GCKem criança com hiperglicemia leve. Arq Bras Endocrinol Metab. 2014, 58(supl 5):S220-221. 

Santana LS, Caetano LA, Jorge AAL, Teles MG. Questionário eletrônico para MODY: otimização da coleta de dados. Arq Bras Endocrinol Metab. 2014, 58(supl 3):S125. 

Santana LS, Caetano LA, Quedas E, Jorge AAL, Teles MG. Electronic Genetic Database For MODY: Optimization Of Molecular Data Collection And Analysis. 60° Congresso Brasileiro de Genética. Guarujá: Sociedade Brasileira de Genética; 2014. p. 29. 

Caetano LA, Jorge AAL, Malaquias AC, Trarbach EB, Queiroz MS, Nery M, et al. Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. Arq Bras Endocrinol Metabol. ABE&M; 2012 Nov;56(8):519–24. 

Caetano LA, Jorge AAL, Malaquias AC, Trarbach EB, Queiroz MS, Nery M, et al. Duas mutações causadoras de MODY 2 identificadas durante investigação de baixa estatura. Arq Bras Endocrinol Metab. 2012;56(supl 5):S227.