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Page 1
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Among authors: toralles mb. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].
Hackel C, Oliveira LE, Toralles MB, Nunes-Silva D, Tonini MM, Ferraz LF, Steinmetz L, Damiani D, Oliveira LC, Maciel-Guerra AT, Stuchi-Perez EG, Guerra-Júnior G. Hackel C, et al. Among authors: toralles mb. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):103-11. doi: 10.1590/s0004-27302005000100014. Epub 2006 Mar 16. Arq Bras Endocrinol Metabol. 2005. PMID: 16544041 Portuguese.
Gender identity in patients with 5-alpha reductase deficiency raised as females.
Nascimento RLP, de Andrade Mesquita IM, Gondim R, Dos Apóstolos RAAC, Toralles MB, de Oliveira LB, Canguçu-Campinho AK, Barroso U Jr. Nascimento RLP, et al. Among authors: toralles mb. J Pediatr Urol. 2018 Oct;14(5):419.e1-419.e6. doi: 10.1016/j.jpurol.2018.08.021. Epub 2018 Sep 5. J Pediatr Urol. 2018. PMID: 30297225
Total urogenital sinus mobilization for ambiguous genitalia.
Jesus VM, Buriti F, Lessa R, Toralles MB, Oliveira LB, Barroso U Jr. Jesus VM, et al. Among authors: toralles mb. J Pediatr Surg. 2018 Apr;53(4):808-812. doi: 10.1016/j.jpedsurg.2017.08.014. Epub 2017 Aug 24. J Pediatr Surg. 2018. PMID: 28917585
Gender dysphoria associated with disorders of sex development.
Furtado PS, Moraes F, Lago R, Barros LO, Toralles MB, Barroso U Jr. Furtado PS, et al. Among authors: toralles mb. Nat Rev Urol. 2012 Nov;9(11):620-7. doi: 10.1038/nrurol.2012.182. Epub 2012 Oct 9. Nat Rev Urol. 2012. PMID: 23045263 Review.
56 results