Alexandre Buffet
Overview
Explore the profile of Alexandre Buffet including associated specialties, affiliations and a list of published articles.
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45
Citations
1601
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Recent Articles
1.
Drossart T, Buffet A, Janbain A, Ottolenghi C, Amar L, Libe R, et al.
J Clin Endocrinol Metab
. 2024 Nov;
PMID: 39541377
Context And Objective: Identifying the risk of malignancy and genetic status in primary paraganglioma or pheochromocytoma (PPGL) is a key challenge. The aim was to assess the diagnostic accuracy of...
2.
Monteagudo M, Calsina B, Salazar-Hidalgo M, Martinez-Montes A, Pineiro-Yanez E, Caleiras E, et al.
Best Pract Res Clin Endocrinol Metab
. 2024 Sep;
38(6):101931.
PMID: 39218714
Pheochromocytomas and paragangliomas are rare neuroendocrine tumours. Around 20-25 % of patients develop metastases, for which there is an urgent need of prognostic markers and therapeutic stratification strategies. The presence...
3.
Buffet A, Filser M, Bruel A, Dard R, Quibel T, Dubucs C, et al.
Genet Med
. 2024 Jul;
27(2):101217.
PMID: 39036894
Purpose: Transient Bartter syndrome related to pathogenic variants of MAGED2 is the most recently described antenatal Bartter syndrome. Despite its transient nature, it is the most severe form of Bartter...
4.
Alzahrani A, Alswailem M, Buffet A, Alghamdi B, Alobaid L, Alsagheir O, et al.
Endocr Relat Cancer
. 2024 May;
31(8).
PMID: 38767322
In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been...
5.
Ivin S, Rialet Q, Buffet A, Aissani H, Taibi T, Bigorre N
Hand Surg Rehabil
. 2024 Apr;
43(3):101700.
PMID: 38642742
Teaching microsurgery is limited by the availability of appropriate training models. In-vivo models, such as rats, remain the gold standard, but ethical and economic limitations restrict their use for initial...
6.
Mancini M, Buffet A, Porte B, Amar L, Lussey-Lepoutre C, Criniere L, et al.
Br J Haematol
. 2024 Jan;
204(3):1054-1060.
PMID: 38195958
We report a large series of 40 patients presenting EPAS1-mutated paraganglioma (PGL) in whom we investigated a cause underlying chronic hypoxia. Four patients suffered from hypoxaemic heart disease. In patients...
7.
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, et al.
J Med Genet
. 2023 Nov;
61(4):378-384.
PMID: 37979962
Background: The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in tumour suppressor gene. The identification of variants requires accurate classification which has an impact...
8.
Pichonnat M, Buffet A, Monnien F, Aubry S, Pluvy I, Loisel F, et al.
Orthop Traumatol Surg Res
. 2023 Jun;
:103646.
PMID: 37356799
Introduction: Despite optimal arterial anastomosis, some finger replantations fail. Our objective was to evaluate how the mechanism of injury (MOI) affects the artery's microscopic appearance and the success of anastomosis....
9.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, et al.
Haematologica
. 2023 Jan;
108(6):1652-1666.
PMID: 36700397
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study,...
10.
Branzoli F, Salgues B, Marjanska M, Laloi-Michelin M, Herman P, Le Collen L, et al.
Endocr Relat Cancer
. 2022 Nov;
30(2).
PMID: 36449569
Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequently involved in pheochromocytoma/paraganglioma (PPGL) development and were implicated in patients with the '3PAs' syndrome (associating pituitary adenoma (PA) and PPGL)...