Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

É. Pasmant

h-index 37 View on Semantic Scholar

We have 5 of 176 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Oct 2026

Clinically actionable genetic findings by exome sequencing performed for therapeutic purposes in children with very-high risk cancer included the MAPPYACTS study.

INTRODUCTION Next-generation sequencing performed for therapeutic decision-making in pediatric cancers provides an opportunity to identify germline variants associated with hereditary cancer predisposition and other actionable inherited conditions. METHODS Germline whole-exome sequencing (WES) was performed within th...

Tiphaine Adam-de-Beaumais, Yahia Adnani, L. Guerrini-Rousseau et al. · 0 citations
Open access Aug 2026

Abnormal Enamel Mineralization and Hypercalcemia due to GNA11 Variants.

Abnormal enamel mineralization has been reported in genetic conditions associated with hypocalcemia but never with hypercalcemia. In the present study, we report 10 patients from 2 unrelated families in whom hypomineralized enamel co-segregated with hypercalcemia due to a complete deletion or frameshifting premature tr...

N. Obtel, A. Le Cabec, A. Lakhel et al. · 0 citations
Aug 2026

Low-frequency CDKN1B variants in pituitary testing: a diagnostic pitfall.

Findings supported a leukocyte-restricted origin of the CDKN1B variants and suggested CHIP as the most likely explanation, but low-frequency CDKN1B variants detected during blood-based germline testing should not be interpreted as constitutional mosaicism or inherited endocrine tumor predisposition.

A. Chansavang, C. Friedrich, Emmanuelle Kuhn et al. · 0 citations
Open access Aug 2026

Cherry Angiomas in Individuals With Neurofibromatosis Type 1.

The results of this cross-sectional study suggest that CAs represent a frequent and previously unrecognized vascular manifestation of NF1, which is supported by epidemiological enrichment and mechanistic evidence of biallelic NF1 inactivation in vascular cells.

L. Fertitta, É. Pasmant, C. Bergqvist et al. · 0 citations
Aug 2026

MICAL2 as a key effector of β-catenin signaling driving melanoma progression and therapeutic resistance.

It is demonstrated that activation of β-catenin is associated with a poor prognosis in melanoma and inhibiting the enzymatic activity of MICAL2 offers a promising and innovative strategy to improve outcomes in β-catenin-driven melanoma.

P. Sohier, J. Raymond, Zackie Aktary et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.