Jerome Lamoril

Paris, France

Last Updated: 09/26/2026

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Found 14 publications

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.

Journal: International journal of dermatology

Published: December 15, 2025

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Journal: Clinical and experimental dermatology

Published: December 14, 2023

Detection of Nine Oncogenes Amplification in Lung and Colorectal Cancer Formalin-Fixed Paraffin-Embedded Tissue Samples using Combined Next-Generation Sequencing-Based Script and Digital Droplet Polymerase Chain Reaction.

Detection of Nine Oncogenes Amplification in Lung and Colorectal Cancer Formalin-Fixed Paraffin-Embedded Tissue Samples using Combined Next-Generation Sequencing-Based Script and Digital Droplet Polymerase Chain Reaction.

Journal: Cancer control : journal of the Moffitt Cancer Center

Published: June 30, 2023

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.

Journal: British journal of haematology

Published: September 07, 2021

ABCB6 polymorphisms are not overly represented in patients with porphyria.

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Journal: Blood advances

Published: June 10, 2021

Novel BMP6 gene mutation in patient with iron overload.

Novel BMP6 gene mutation in patient with iron overload.

Journal: European journal of gastroenterology & hepatology

Published: May 26, 2021

A new KIF5B-ERBB4 gene fusion in a lung adenocarcinoma patient.

A new KIF5B-ERBB4 gene fusion in a lung adenocarcinoma patient.

Journal: ERJ open research

Published: September 07, 2020

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Journal: Clinics and research in hepatology and gastroenterology

Published: August 23, 2019

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

Journal: Human molecular genetics

Published: October 13, 2017

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 29, 2016

Direct to consumer genetic testing: is it the moment?

Direct to consumer genetic testing: is it the moment?

Journal: Annales de biologie clinique

Published: January 09, 2016

A coding polymorphism in the BMP2 gene is associated with iron overload in non-HFE haemochromatosis patients.

A coding polymorphism in the BMP2 gene is associated with iron overload in non-HFE haemochromatosis patients.

Journal: Blood cells, molecules & diseases

Published: June 22, 2015

Showing 1-12 of 14

Last Updated: 09/26/2026