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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S. Karlsson L, et al. Among authors: palandi de mello m. Clin Biochem. 2019 Nov;73:50-56. doi: 10.1016/j.clinbiochem.2019.07.009. Epub 2019 Jul 22. Clin Biochem. 2019. PMID: 31344365
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.
Silva-Grecco RLD, de Paula Michelatto D, Lincoln-de-Carvalho CR, Henrique PP, da Cunha HM, Palandi-de-Mello M. Silva-Grecco RLD, et al. Among authors: palandi de mello m. Mol Genet Metab Rep. 2015 Nov 9;5:98-102. doi: 10.1016/j.ymgmr.2015.10.011. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649552 Free PMC article.
Bilateral Wilms' tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region.
Guaragna MS, Ledesma FL, Manzano VZ, Maciel-Guerra AT, Guerra-Júnior G, Silva MM, Luiz de Brito P, Palandi de Mello M. Guaragna MS, et al. Among authors: palandi de mello m. J Pediatr Endocrinol Metab. 2022 Mar 21;35(6):837-843. doi: 10.1515/jpem-2021-0673. Print 2022 Jun 27. J Pediatr Endocrinol Metab. 2022. PMID: 35304980
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
Simioni M, Lopes Monlleó I, Costa de Queiroz CM, Fragoso Peixoto Gazzaneo I, Lima do Nascimento DL, Luna de Omena Filho R, Santos da Cruz Piveta C, Palandi de Mello M, Gil-da-Silva-Lopes VL. Simioni M, et al. Among authors: palandi de mello m. Sex Dev. 2016;10(1):23-7. doi: 10.1159/000444870. Epub 2016 Mar 24. Sex Dev. 2016. PMID: 27007510
Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient.
Godoy Assumpção J, Hackel C, Marques-De-Faria AP, Palandi de Mello M. Godoy Assumpção J, et al. Among authors: palandi de mello m. Am J Med Genet. 2000 Mar 13;91(2):95-8. doi: 10.1002/(sici)1096-8628(20000313)91:2<95::aid-ajmg2>3.0.co;2-j. Am J Med Genet. 2000. PMID: 10748404
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism.
Ribeiro Scolfaro M, Aparecida Cardinalli I, Gabas Stuchi-Perez E, Palandi de Mello M, de Godoy Assumpção J, Matias Baptista MT, Bustorff Silva JM, Trevas Maciel-Guerra A, Guerra G Jr. Ribeiro Scolfaro M, et al. Among authors: palandi de mello m. Arch Pathol Lab Med. 2001 May;125(5):652-6. doi: 10.5858/2001-125-0652-MAHOGF. Arch Pathol Lab Med. 2001. PMID: 11300937 Free article.