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Page 1
Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.
Santana LS, Caetano LA, Costa-Riquetto AD, Quedas EPS, Nery M, Collett-Solberg P, Boguszewski MCS, Vendramini MF, Crisostomo LG, Floh FO, Zarabia ZI, Kohara SK, Guastapaglia L, Passone CGB, Sewaybricker LE, Jorge AAL, Teles MG. Santana LS, et al. Among authors: teles mg. Clin Genet. 2017 Oct;92(4):388-396. doi: 10.1111/cge.12988. Epub 2017 Apr 12. Clin Genet. 2017. PMID: 28170077
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.
Giuffrida FMA, 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; Brazilian Monogenic Diabetes Study Group (BRASMOD). Giuffrida FMA, et al. Among authors: teles mg. Diabetes Res Clin Pract. 2017 Jan;123:134-142. doi: 10.1016/j.diabres.2016.10.017. Epub 2016 Oct 22. Diabetes Res Clin Pract. 2017. PMID: 28012402
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
Caetano LA, Santana LS, Costa-Riquetto AD, Lerario AM, Nery M, Nogueira GF, Ortega CD, Rocha MS, Jorge AAL, Teles MG. Caetano LA, et al. Among authors: teles mg. Clin Genet. 2018 Feb;93(2):382-386. doi: 10.1111/cge.13044. Epub 2017 Jul 19. Clin Genet. 2018. PMID: 28436541 Free article.
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Montenegro RM Jr, Costa-Riquetto AD, Fernandes VO, Montenegro APDR, de Santana LS, Jorge AAL, Karbage LBAS, Aguiar LB, Carvalho FHC, Teles MG, d'Alva CB. Montenegro RM Jr, et al. Among authors: teles mg. Front Endocrinol (Lausanne). 2018 Aug 20;9:458. doi: 10.3389/fendo.2018.00458. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 30177912 Free PMC article.
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
Dotto RP, Santana LS, Lindsey SC, Caetano LA, Franco LF, Moisés RCMS, Sa JR, Nishiura JL, Teles MG, Heilberg IP, Dias-da-Silva MR, Giuffrida FMA, Reis AF. Dotto RP, et al. Among authors: teles mg. Arch Endocrinol Metab. 2019 May-Jun;63(3):250-257. doi: 10.20945/2359-3997000000138. Epub 2019 May 2. Arch Endocrinol Metab. 2019. PMID: 31066763 Free PMC article.
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS, Caetano LA, Costa-Riquetto AD, Franco PC, Dotto RP, Reis AF, Weinert LS, Silveiro SP, Vendramini MF, do Prado FA, Abrahão GCP, de Almeida AGFP, Tavares MDGR, Gonçalves WRB, Santomauro Junior AC, Halpern B, Jorge AAL, Nery M, Teles MG. de Santana LS, et al. Among authors: teles mg. Mol Genet Genomic Med. 2019 Dec;7(12):e962. doi: 10.1002/mgg3.962. Epub 2019 Oct 8. Mol Genet Genomic Med. 2019. PMID: 31595705 Free PMC article.
Targeted massively parallel sequencing for congenital generalized lipodystrophy.
Costa-Riquetto AD, Santana LS, Caetano LA, Lerário AM, Correia-Deur JEM, Bertola DR, Kim CA, Nery M, Jorge AAL, Teles MG. Costa-Riquetto AD, et al. Among authors: teles mg. Arch Endocrinol Metab. 2021 May 18;64(5):559-566. doi: 10.20945/2359-3997000000278. Arch Endocrinol Metab. 2021. PMID: 34033296 Free PMC article.
30 results