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Eric Pasmant

24PUBLICATIONS

123CO-AUTHORS

Neurology and neuromuscular diseasesGene mappingHaematological tumoursFoetal development and medicineMedical bacteriology

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Publications (24)

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|Aug 04, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants.

Laurence Pacot, Marinus Blok, Dominique Vidaud

|Feb 08, 2025

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.

Lucas Bouys, Patricia Vaduva, Anne Jouinot

|Jan 08, 2025

PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.

Patricia Vaduva, Lucas Bouys, Anne Jouinot

|Sep 08, 2024

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.

Laurence Pacot, Dominique Vidaud, Manuela Ye

|Aug 24, 2024

Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.

Florian Violon, Lucas Bouys, Patricia Vaduva

|Jun 07, 2024

Efficacy and Safety of Immune Checkpoint Blockade in Patients With Li-Fraumeni Syndrome.

Michele Bottosso, Benjamin Verret, Olivier Caron

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Frequent Collaborators

3 joint publications

Florian Violon

3 joint publications

Annabel Berthon

3 joint publications

Lucas Bouys

3 joint publications

Camille Tlemsani

2 joint publications

Pauline Romanet

2 joint publications

Igor Tauveron

2 joint publications

Léa Guerrini-Rousseau

2 joint publications

Antoine Tabarin

2 joint publications

Nadim Hamzaoui

2 joint publications

Gaël Nicolas

Frequent Collaborators

3 joint publications

Florian Violon

3 joint publications

Annabel Berthon

3 joint publications

Lucas Bouys

3 joint publications

Camille Tlemsani

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