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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Ferreira NGBP, Madeira JLO, Gergics P, Kertsz R, Marques JM, Trigueiro NSS, Benedetti AFF, Azevedo BV, Fernandes BHV, Bissegatto DD, Biscotto IP, Fang Q, Ma Q, Ozel AB, Li J, Camper SA, Jorge AAL, Mendonça BB, Arnhold IJP, Carvalho LR. Ferreira NGBP, et al. Among authors: benedetti aff. Endocr Connect. 2023 Jul 5;12(8):e220473. doi: 10.1530/EC-22-0473. Endocr Connect. 2023. PMID: 37166408 Free PMC article.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Gomes NL, Batista RL, Nishi MY, Lerário AM, Silva TE, de Moraes Narcizo A, Benedetti AFF, de Assis Funari MF, Faria Junior JA, Moraes DR, Quintão LML, Montenegro LR, Ferrari MTM, Jorge AA, Arnhold IJP, Costa EMF, Domenice S, Mendonca BB. Gomes NL, et al. Among authors: benedetti aff. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064. J Clin Endocrinol Metab. 2022. PMID: 35134971
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: benedetti aff. Genes (Basel). 2021 Jul 25;12(8):1128. doi: 10.3390/genes12081128. Genes (Basel). 2021. PMID: 34440302 Free PMC article.
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Labello JH, Benedetti AFF, Azevedo BV, de Lima Jorge AA, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, de Carvalho LRS. Labello JH, et al. Among authors: benedetti aff. Arch Endocrinol Metab. 2022 Mar 8;66(1):104-111. doi: 10.20945/2359-3997000000428. Epub 2022 Jan 13. Arch Endocrinol Metab. 2022. PMID: 35029852 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: benedetti aff. 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.