Ariane Rozie-Lunati - Publications

Cherry Angiomas in Individuals With Neurofibromatosis Type 1.

Journal: JAMA dermatology

Published: August 19, 2026

Evaluation of the yield index of genetic counselling for first-degree relatives of patients with hereditary transthyretin cardiac amyloidosis.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: May 15, 2026

Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient.

Journal: Frontiers in genetics

Published: September 09, 2025

Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI.

Journal: Journal of the American Academy of Dermatology

Published: April 03, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the HSD17B10 gene: case report.

Journal: AME case reports

Published: December 16, 2024

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

Journal: NPJ genomic medicine

Published: January 24, 2024

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.

Journal: British journal of haematology

Published: January 03, 2023

Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.

Journal: American journal of hematology

Published: April 08, 2022