A. Chaventre

TL;DR: Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.

TL;DR: This group of 72 POAG patients is the largest one having a G LC1A mutation in common and provides a unique tool to investigate the factors influencing the variable expressivity of the GLC1A gene.

TL;DR: Two large French pedigrees with a similar form of familial autosomal dominant juvenile-onset glaucoma with chromosome 1q21-q23 are studied to facilitate the screening of glau coma families and the identification of individuals at risk for the disease.

TL;DR: It is speculated that the presence of some genetic variants in the population or the heterozygote status of individuals for thyroid hereditary disorders may influence the degree of the thyroid enlargement and/or hypothyroidism.

TL;DR: Microsatellite haplotypes were determined for 117 chromosomes carrying the four most frequent mutations in the cystic fibrosis (CF) gene identified in the Breton population of Celtic origin, suggesting identity-by-descent for each mutation, and recurrent mutations, although unlikely, could not be completely ruled out.