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Page 1
[No title available]
[No authors listed] [No authors listed] PMID: 32876150
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. Arch Endocrinol Metab. 2021 May 18;64(5):559-566. doi: 10.20945/2359-3997000000278. Arch Endocrinol Metab. 2021. PMID: 34033296 Free PMC 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: costa riquetto ad. 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.
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: costa riquetto ad. Clin Genet. 2018 Feb;93(2):382-386. doi: 10.1111/cge.13044. Epub 2017 Jul 19. Clin Genet. 2018. PMID: 28436541 Free article.
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: costa riquetto ad. Clin Genet. 2017 Oct;92(4):388-396. doi: 10.1111/cge.12988. Epub 2017 Apr 12. Clin Genet. 2017. PMID: 28170077
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: costa riquetto ad. 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.
Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.
Franco PC, Patrocinio M, Costa-Riquetto AD, Santomauro AC, Gomes LG, Teles MG. Franco PC, et al. Among authors: costa riquetto ad. Arch Endocrinol Metab. 2024 Jun 19;68:e230084. doi: 10.20945/2359-4292-2023-0084. eCollection 2024. Arch Endocrinol Metab. 2024. PMID: 39420889 Free PMC article.
The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age.
Santomauro AC Jr, Magalhães ÁLF, Motta FT, de Santana LS, Franco PC, de Freitas SM, Sanchez JJD, Costa-Riquetto AD, Teles MG. Santomauro AC Jr, et al. Among authors: costa riquetto ad. Diabetol Metab Syndr. 2023 Feb 6;15(1):15. doi: 10.1186/s13098-023-00985-3. Diabetol Metab Syndr. 2023. PMID: 36747290 Free PMC article.