Publications by authors named "Alexandre Buffet"

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Loss of heterozygosity and absence of MAX immunostaining in a prolactinoma associated with multiple endocrine neoplasia type 5 (MEN5).
Brigitte Delemer, Simona M Florea, Benedicte Decoudier, Camille Boulagnon-Rombi, Bhargavi Karna, Alexandre Buffet

Pituitary· November 2025

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Biomarkers Improving Genetic and Metastatic Disease Prediction in Paraganglioma: Insights From a Prospective Study.
Tom Drossart, Alexandre Buffet, Ali Janbain, Chris Ottolenghi, Laurence Amar

J Clin Endocrinol Metab· July 2025

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PGL-EXPO feasibility study of exposure to SDHi fungicides and risk of hereditary SDHx paraganglioma or pheochromocytoma.
Astrid Coste, Alexandre Buffet, Margaux Duboeuf, Sabrina Boudif, Lény Grassot

Sci Rep· July 2025

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Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.
Carlota Arenillas, Lucía Celada, José Ruiz-Cantador, Bruna Calsina, Debayan Datta, Alexandre Buffet

Cancer Discov· May 2025

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Should the artery be trimmed before anastomosis in every finger replantation/revascularization case? Prospective, single-center, multidisciplinary study over 46 months.
Marine Pichonnat, Alexandre Buffet, Franck Monnien, Sébastien Aubry, Isabelle Pluvy

Orthop Traumatol Surg Res· April 2025

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X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
Alexandre Buffet, Mathilde Filser, Alexandra Bruel, Rodolphe Dard, Thibaud Quibel

Genet Med· February 2025

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MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma.
María Monteagudo, Bruna Calsina, Milton E Salazar-Hidalgo, Ángel M Martínez-Montes, Elena Piñeiro-Yáñez, Alexandre Buffet

Best Pract Res Clin Endocrinol Metab· December 2024

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EPAS1-related pheochromocytoma/paraganglioma.
Ali S Alzahrani, Meshael Alswailem, Alexandre Buffet, Balgees Alghamdi, Lulu Alobaid

Endocr Relat Cancer· August 2024

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Egg membrane as a training model for microsurgery.
Solenn Ivin, Quentin Rialet, Alexandre Buffet, Hedi Aïssani, Thiziri Taibi

Hand Surg Rehabil· June 2024

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Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Gregory Mougel, Amira Mohamed, Nelly Burnichon, Sophie Giraud, Pascal Pigny, Alexandre Buffet

J Med Genet· March 2024

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EPAS1-mutated paragangliomas associated with haemoglobin disorders.
Maxence Mancini, Alexandre Buffet, Baptiste Porte, Laurence Amar, Charlotte Lussey-Lepoutre

Br J Haematol· March 2024

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Comprehensive and functional studies for classification of genetic variants identified in patients with erythrocytosis.
Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet

Haematologica· June 2023

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SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Francesca Branzoli, Betty Salgues, Małgorzata Marjańska, Marie Laloi-Michelin, Philippe Herman, Alexandre Buffet

Endocr Relat Cancer· February 2023

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Expression of LHCGR in Pheochromocytomas Unveils an Endocrine Mechanism Connecting Pregnancy and Epinephrine Overproduction.
Antoine-Guy Lopez, Céline Duparc, Sylvie Renouf, Elise Machevin, Vincent Le Guillou, Alexandre Buffet

Hypertension· May 2022

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Alice Garrett, Chey Loveday, Laura King, Samantha Butler, Rachel Robinson, Alexandre Buffet

Genet Med· January 2022

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International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Laurence Amar, Karel Pacak, Olivier Steichen, Scott A Akker, Simon J B Aylwin, Alexandre Buffet

Nat Rev Endocrinol· July 2021

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Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.
Clotilde Saie, Alexandre Buffet, Juliette Abeillon, Delphine Drui, Sophie Leboulleux

J Clin Endocrinol Metab· March 2021

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Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.
Alexandre Buffet, Juan Zhang, Heggert Rebel, Eleonora P M Corssmit, Jeroen C Jansen

J Clin Endocrinol Metab· January 2021

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Germline mutations in the new E1' cryptic exon of the gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Alexandre Buffet, Bruna Calsina, Shahida Flores, Sophie Giraud, Marion Lenglet

J Med Genet· November 2020

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Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Céline Mouly, Rosa Vargas-Poussou, Anne Lienhardt, Caroline Silve, Marguerite Hureaux, Alexandre Buffet

Clin Endocrinol (Oxf)· September 2020

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Succinate detection using in vivo H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas.
Charlotte Lussey-Lepoutre, Alexandre Bellucci, Nelly Burnichon, Laurence Amar, Alexandre Buffet

Eur J Nucl Med Mol Imaging· June 2020

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Transcriptome Analysis of lncRNAs in Pheochromocytomas and Paragangliomas.
Sylvie Job, Adrien Georges, Nelly Burnichon, Alexandre Buffet, Laurence Amar

J Clin Endocrinol Metab· March 2020

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TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition.
Aurélie Morin, Judith Goncalves, Sophie Moog, Luis-Jaime Castro-Vega, Sylvie Job, Alexandre Buffet

Cell Rep· March 2020

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An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.
Alexandre Buffet, Nelly Burnichon, Judith Favier, Anne-Paule Gimenez-Roqueplo

Best Pract Res Clin Endocrinol Metab· March 2020

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Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Laurène Ben Aim, Pascal Pigny, Luis Jaime Castro-Vega, Alexandre Buffet, Laurence Amar

J Med Genet· August 2019

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