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Page 1
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: santana ls. Arch Endocrinol Metab. 2021 May 18;64(5):559-566. doi: 10.20945/2359-3997000000278. Arch Endocrinol Metab. 2021. PMID: 34033296 Free PMC 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. Clin Genet. 2017 Oct;92(4):388-396. doi: 10.1111/cge.12988. Epub 2017 Apr 12. Clin Genet. 2017. PMID: 28170077
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: santana ls. Clin Genet. 2018 Feb;93(2):382-386. doi: 10.1111/cge.13044. Epub 2017 Jul 19. Clin Genet. 2018. PMID: 28436541 Free 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: santana ls. 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.
Evaluation of SHOX defects in the era of next-generation sequencing.
Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL. Funari MFA, et al. Among authors: santana ls. Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4. Clin Genet. 2019. PMID: 31219618 Free article.
Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism.
Rassi-Cruz M, Maria AG, Faucz FR, London E, Vilela LAP, Santana LS, Benedetti AFF, Goldbaum TS, Tanno FY, Srougi V, Chambo JL, Pereira MAA, Cavalcante ACBS, Carnevale FC, Pilan B, Bortolotto LA, Drager LF, Lerario AM, Latronico AC, Fragoso MCBV, Mendonca BB, Zerbini MCN, Stratakis CA, Almeida MQ. Rassi-Cruz M, et al. Among authors: santana ls. Endocr Relat Cancer. 2021 Jan;28(1):1-13. doi: 10.1530/ERC-20-0384. Endocr Relat Cancer. 2021. PMID: 33112806 Free PMC article.
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.
Fagundes GFC, Freitas-Castro F, Santana LS, Afonso ACF, Petenuci J, Funari MFA, Guimaraes AG, Ledesma FL, Pereira MAA, Victor CR, Ferrari MSM, Coelho FMA, Srougi V, Tanno FY, Chambo JL, Latronico AC, Mendonca BB, Fragoso MCBV, Hoff AO, Almeida MQ. Fagundes GFC, et al. Among authors: santana ls. J Clin Endocrinol Metab. 2023 Jul 14;108(8):2105-2114. doi: 10.1210/clinem/dgad028. J Clin Endocrinol Metab. 2023. PMID: 36652439
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.
Fagundes GFC, Freitas-Castro F, Santana LS, Ledesma FL, Petenuci J, Afonso ACF, Pereira CAA, Maciel AAW, Soares IC, Gomes NL, Lourenço DM, Pereira MAA, Srougi V, Tanno FY, Chambo JL, Fragoso MCBV, Hoff AO, Mendonca BB, Latronico AC, Almeida MQ. Fagundes GFC, et al. Among authors: santana ls. Eur J Endocrinol. 2025 Jan 6;192(1):1-14. doi: 10.1093/ejendo/lvae160. Eur J Endocrinol. 2025. PMID: 39688739
55 results