Alexandre Buffet

INSERM

France

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Articles (10)

Year:

2023

Year:

2023

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Year:

2020

Collaborators (8)

Patricia L M Dahia

UNITED STATES

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Miranda Durkie

Deputy head of rare disease

UNITED KINGDOM

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Charlotte Lussey-Lepoutre

Sorbonne Université

FRANCE

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David Hoogewijs

Professor

University of Fribourg

SWITZERLAND

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Judith Favier

Université Paris Cité

FRANCE

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Frederik Hes

Vrije Universiteit Brussel

BELGIUM

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Darko Maric

University of Fribourg

SWITZERLAND

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Juan Zhang

Leiden University Medical Center

NETHERLANDS

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Alexandre Buffet

Research Interests

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Articles (10)

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

Expression of LHCGR in Pheochromocytomas Unveils an Endocrine Mechanism Connecting Pregnancy and Epinephrine Overproduction.

Germline DLST variants promote epigenetic modifications in pheochromocytoma-paraganglioma

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.

Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.

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

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.

Collaborators (8)

Patricia L M Dahia

Miranda Durkie

Charlotte Lussey-Lepoutre

David Hoogewijs

Judith Favier

Frederik Hes

Darko Maric

Juan Zhang

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