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Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR. Nakaguma M, et al. Among authors: jorge aal. Genes (Basel). 2021 Jul 25;12(8):1128. doi: 10.3390/genes12081128. Genes (Basel). 2021. PMID: 34440302 Free PMC article.
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.
Lerario AM, Mohan DR, Montenegro LR, Funari MFA, Nishi MY, Narcizo AM, Benedetti AFF, Oba-Shinjo SM, Vitorino AJ, Santos RASXD, Jorge AAL, Onuchic LF, Marie SKN, Mendonca BB. Lerario AM, et al. Among authors: jorge aal. Clinics (Sao Paulo). 2020;75:e1913. doi: 10.6061/clinics/2020/e1913. Epub 2020 Aug 10. Clinics (Sao Paulo). 2020. PMID: 32785571 Free PMC article.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Homma TK, et al. Among authors: jorge aal. J Pediatr. 2019 Dec;215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. J Pediatr. 2019. PMID: 31630891
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC. Canton APM, et al. Among authors: jorge aal. Hum Reprod. 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. Hum Reprod. 2021. PMID: 33313884
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E, Ferreira de Assis Funari M, Pereira de Souza Quedas E, Sayuri Honjo Kawahira R, Soares Jallad R, Homma TK, Martin RM, Brito VN, Malaquias AC, Lerario AM, Rosenberg C, Victorino Krepischi AC, Ae Kim C, Arnhold IJP, Jorge AAL. Vasco de Albuquerque Albuquerque E, et al. Among authors: jorge aal. Eur J Endocrinol. 2020 Feb;182(2):139-147. doi: 10.1530/EJE-19-0785. Eur J Endocrinol. 2020. PMID: 31751304
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: jorge aal. 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.
161 results