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Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
Bayley JP, Oldenburg RA, Nuk J, Hoekstra AS, van der Meer CA, Korpershoek E, McGillivray B, Corssmit EP, Dinjens WN, de Krijger RR, Devilee P, Jansen JC, Hes FJ. Bayley JP, et al. BMC Med Genet. 2014 Oct 10;15:111. doi: 10.1186/s12881-014-0111-8. BMC Med Genet. 2014. PMID: 25300370 Free PMC article.
The phenotype of SDHB germline mutation carriers: a nationwide study.
Niemeijer ND, Rijken JA, Eijkelenkamp K, van der Horst-Schrivers ANA, Kerstens MN, Tops CMJ, van Berkel A, Timmers HJLM, Kunst HPM, Leemans CR, Bisschop PH, Dreijerink KMA, van Dooren MF, Bayley JP, Pereira AM, Jansen JC, Hes FJ, Hensen EF, Corssmit EPM. Niemeijer ND, et al. Among authors: bayley jp. Eur J Endocrinol. 2017 Aug;177(2):115-125. doi: 10.1530/EJE-17-0074. Epub 2017 May 10. Eur J Endocrinol. 2017. PMID: 28490599
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N. Ben Aim L, et al. Among authors: bayley jp. J Med Genet. 2022 Aug;59(8):785-792. doi: 10.1136/jmedgenet-2020-107652. Epub 2021 Aug 27. J Med Genet. 2022. PMID: 34452955 Free PMC article.
65 results