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Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.
Fagundes GFC, Freitas-Castro F, Santana LS, Afonso ACF, Petenuci J, Funari MFA, Guimaraes AG, Ledesma FL, Pereira MAA, Victor CR, Ferrari MSM, Coelho FMA, Srougi V, Tanno FY, Chambo JL, Latronico AC, Mendonca BB, Fragoso MCBV, Hoff AO, Almeida MQ. Fagundes GFC, et al. Among authors: afonso acf. J Clin Endocrinol Metab. 2023 Jul 14;108(8):2105-2114. doi: 10.1210/clinem/dgad028. J Clin Endocrinol Metab. 2023. PMID: 36652439
Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.
Petenuci J, Guimaraes AG, Fagundes GFC, Benedetti AFF, Afonso ACF, Pereira MAA, Zerbini MCN, Siqueira S, Yamauchi F, Soares SC, Srougi V, Tanno FY, Chambo JL, Lopes RI, Denes FT, Hoff AO, Latronico AC, Mendonca BB, Fragoso MCBV, Almeida MQ. Petenuci J, et al. Among authors: afonso acf. Clin Endocrinol (Oxf). 2021 Jul;95(1):117-124. doi: 10.1111/cen.14467. Epub 2021 Mar 28. Clin Endocrinol (Oxf). 2021. PMID: 33745191
SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas.
Petenuci J, Fagundes GFC, Benedetti AFF, Guimaraes AG, Afonso ACF, Mota FT, Magalhães ALF, Coura-Filho GB, Zerbini MCN, Siqueira S, Montenegro FLM, Srougi V, Tanno FY, Chambo JL, Ferrari MSS, Bezerra Neto JE, Pereira MAA, Latronico AC, Fragoso MCBV, Mendonca BB, Hoff AO, Almeida MQ. Petenuci J, et al. Among authors: afonso acf. Endocrine. 2021 May;72(2):586-590. doi: 10.1007/s12020-020-02594-w. Epub 2021 Jan 9. Endocrine. 2021. PMID: 33420946 No abstract available.