Anne Guiochon-Mantel

Professor

Université Paris-Saclay

France

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About

Anne Guiochon-Mantel is a Professor at Université Paris-Saclay in France. Her research primarily focuses on genetic disorders, including Transthyretin amyloid polyneuropathy, Charcot-Marie-Tooth disease, and other rare genetic conditions. She has substantial expertise in the application of next-generation sequencing and bioinformatics for molecular diagnosis. Additionally, her work includes the study of hormonal influences on health outcomes in older populations.

Articles (7)

Year:

2024

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Collaborators (8)

say viengchareun

Inserm u1183

FRANCE

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Pierre-Simon Jouk

Prof

Centre Hospitalier Universitaire Vaudois

FRANCE

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Marcel Tawk

INSERM

FRANCE

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Jean-Louis Bessereau

Université Claude Bernard Lyon 1

FRANCE

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FREDERIC FIORE

Head of Genetic Engineering Department, PhD

INSERM Délégation régionale Provence Alpes Cote d'Azur et Corse

FRANCE

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celine verstuyft

Full Professor of Pharmacology

FRANCE

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Emmanuel GONZALES

Full Professor of Pediatrics

Université Paris-Saclay

FRANCE

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Isabelle BEAU

INSERM

FRANCE

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Anne Guiochon-Mantel

Research Interests

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About

Articles (7)

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Testosterone levels and cause-specific mortality in the older French men without metabolic syndrome.

Collaborators (8)

say viengchareun

Pierre-Simon Jouk

Marcel Tawk

Jean-Louis Bessereau

FREDERIC FIORE

celine verstuyft

Emmanuel GONZALES

Isabelle BEAU

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