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New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF, Mattos D, de Carvalho FM, Cavalcanti DP, Duenas-Roque MM, Llerena J Jr, Cosentino VR, Honjo RS, Leite JCL, Sanseverino MT, de Souza MPA, Bernardi P, Bolognese AM, Santana da Silva LC, Barbero P, Correia PS, Bueno LSM, Savastano CP, Orioli IM. de Castro VF, et al. Among authors: leite jcl. Mol Syndromol. 2021 Jul;12(4):219-233. doi: 10.1159/000515044. Epub 2021 Jun 15. Mol Syndromol. 2021. PMID: 34421500 Free PMC article.
List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System.
Cardoso-Dos-Santos AC, Medeiros-de-Souza AC, Bremm JM, Alves RFS, Araújo VEM, Leite JCL, Schuler-Faccini L, Sanseverino MTV, Karam SM, Félix TM, Leal MB, Macário EM, Medeiros AC, França GVA. Cardoso-Dos-Santos AC, et al. Among authors: leite jcl. Epidemiol Serv Saude. 2021 Apr 16;30(1):e2020835. doi: 10.1590/S1679-49742021000100030. eCollection 2021. Epidemiol Serv Saude. 2021. PMID: 33886939 Free article. English, Portuguese.
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.
Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB. Gomes NL, et al. Among authors: leite jcl. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.
19 results