Publications by authors named "J L Lamoril"
Background: Gorlin Syndrome (GS) is an autosomal dominant disorder characterised by a predisposition to basal cell carcinoma and developmental defects, and caused by pathogenic variants in PTCH1 or SUFU genes.
Objectives: To ascertain the efficiency of molecular screening in a cohort of patients with a suspicion of GS and to describe patients' clinical and genetic characteristics.
Methods: 110 patients with a suspicion of GS, addressed to the Genetic Department of Bichat University Hospital for molecular screening were studied.
Introduction: Gene copy number variations have theranostic impact and require reliable methods for their identification. We aimed to evaluate the reliability of combined next-generation sequencing (NGS) and digital droplet PCR (ddPCR) method for gene amplification evaluation.
Methods: We conducted a retrospective multicentric observational study.
Article Synopsis
- Acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria are inherited conditions that follow an autosomal dominant pattern, meaning just one copy of the mutated gene can cause the disease.
- These conditions show different symptoms in different people, which makes them difficult to predict.
- Research found that a gene called ABCB6 doesn't affect how severe these diseases are, so testing for it in patients isn’t necessary.