Oriane Marmontel

Centre De Biologie Et De Pathologies Est, Hospices Civils De Lyon Groupement Hospitalier Est
Bron, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 34 publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Evaluating Cobas® b101 for lipid profile and SCORE2 risk assessment from capillary blood in population screening.

Evaluating Cobas® b101 for lipid profile and SCORE2 risk assessment from capillary blood in population screening.

Journal: Clinical chemistry and laboratory medicine

Published: April 11, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Journal: Atherosclerosis

Published: November 08, 2025

Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.

Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.

Journal: Obesity science & practice

Published: June 04, 2025

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Journal: Atherosclerosis

Published: March 23, 2025

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Journal: Atherosclerosis

Published: January 24, 2025

Interference of hypertriglyceridemia on total cholesterol assay with the new CHOL2 Abbott method on Architect analyser.

Interference of hypertriglyceridemia on total cholesterol assay with the new CHOL2 Abbott method on Architect analyser.

Journal: Clinical chemistry and laboratory medicine

Published: December 11, 2024

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Journal: Clinical genetics

Published: October 02, 2024

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

Journal: Atherosclerosis

Published: May 22, 2024

Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers.

Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers.

Journal: Clinical chemistry and laboratory medicine

Published: May 12, 2024

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Journal: Clinical chemistry and laboratory medicine

Published: February 01, 2024

Showing 1-12 of 34

Last Updated: 09/26/2026