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Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease.
Flores SK, Cheng Z, Jasper AM, Natori K, Okamoto T, Tanabe A, Gotoh K, Shibata H, Sakurai A, Nakai T, Wang X, Zethoven M, Balachander S, Aita Y, Young W, Zheng S, Takekoshi K, Nakamura E, Tothill RW, Aguiar RCT, Dahia PLM. Flores SK, et al. J Clin Endocrinol Metab. 2019 Sep 1;104(9):3826-3834. doi: 10.1210/jc.2019-00235. J Clin Endocrinol Metab. 2019. PMID: 30946460 Free PMC article.
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM. Armaiz-Pena G, et al. Among authors: flores sk. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e350-e364. doi: 10.1210/clinem/dgaa741. J Clin Endocrinol Metab. 2021. PMID: 33051659 Free PMC article.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP. Buffet A, et al. J Med Genet. 2020 Nov;57(11):752-759. doi: 10.1136/jmedgenet-2019-106519. Epub 2020 Jan 29. J Med Genet. 2020. PMID: 31996412 Free PMC article.
EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease.
Vaidya A, Flores SK, Cheng ZM, Nicolas M, Deng Y, Opotowsky AR, Lourenço DM Jr, Barletta JA, Rana HQ, Pereira MA, Toledo RA, Dahia PLM. Vaidya A, et al. Among authors: flores sk. N Engl J Med. 2018 Mar 29;378(13):1259-1261. doi: 10.1056/NEJMc1716652. N Engl J Med. 2018. PMID: 29601261 Free PMC article. No abstract available.
31 results