Alexandre Buffet
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Explore the profile of Alexandre Buffet including associated specialties, affiliations and a list of published articles.
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45
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1601
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Recent Articles
11.
Lopez A, Duparc C, Renouf S, Machevin E, Le Guillou V, Sabourin J, et al.
Hypertension
. 2022 Feb;
79(5):1006-1016.
PMID: 35189708
Background: The mechanisms by which pregnancy may unmask pheochromocytomas and paragangliomas are not totally understood. We hypothesized that gestational hormones may participate in the pathophysiology of catecholamine excess during pregnancy....
12.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, et al.
Genet Med
. 2021 Dec;
24(1):41-50.
PMID: 34906457
Purpose: The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors, pheochromocytomas and paragangliomas...
13.
Amar L, Pacak K, Steichen O, Akker S, Aylwin S, Baudin E, et al.
Nat Rev Endocrinol
. 2021 May;
17(7):435-444.
PMID: 34021277
Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the...
14.
Saie C, Buffet A, Abeillon J, Drui D, Leboulleux S, Bertherat J, et al.
J Clin Endocrinol Metab
. 2020 Nov;
106(3):e1301-e1315.
PMID: 33247927
Context: When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening...
15.
Buffet A, Zhang J, Rebel H, Corssmit E, Jansen J, Hensen E, et al.
J Clin Endocrinol Metab
. 2020 Nov;
106(2):459-471.
PMID: 33180916
Context: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors in which altered central metabolism appears to be a major driver of tumorigenesis, and many PPGL genes encode proteins involved in the...
16.
Mouly C, Vargas-Poussou R, Lienhardt A, Silve C, Hureaux M, Magdelaine C, et al.
Clin Endocrinol (Oxf)
. 2020 Apr;
93(3):248-260.
PMID: 32347971
Objective: Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss-of-function mutations of the calcium-sensing receptor gene, is the main differential diagnosis for primary hyperparathyroidism. The aim of our study...
17.
Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo A
Best Pract Res Clin Endocrinol Metab
. 2020 Apr;
34(2):101416.
PMID: 32295730
Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours characterized by a strong genetic determinism. Over the past 20 years, evolution of PPGL genetics has revealed that around 40% of PPGL...
18.
Morin A, Goncalves J, Moog S, Castro-Vega L, Job S, Buffet A, et al.
Cell Rep
. 2020 Apr;
30(13):4551-4566.e7.
PMID: 32234487
Loss-of-function mutations in the SDHB subunit of succinate dehydrogenase predispose patients to aggressive tumors characterized by pseudohypoxic and hypermethylator phenotypes. The mechanisms leading to DNA hypermethylation and its contribution to...
19.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, et al.
J Med Genet
. 2020 Jan;
57(11):752-759.
PMID: 31996412
Backgrounds: The incidence of germline mutations in the newly discovered cryptic exon (E1') of gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or pheochromocytoma (PPGL)...
20.
Lussey-Lepoutre C, Bellucci A, Burnichon N, Amar L, Buffet A, Drossart T, et al.
Eur J Nucl Med Mol Imaging
. 2019 Dec;
47(6):1510-1517.
PMID: 31834447
Purpose: Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequent in patients with pheochromocytoma and paraganglioma (PPGL). They lead to SDH inactivation, mediating a massive accumulation of succinate, which...