E. Fransen

Publication List Details

Period

1996 - 2008

Number

21

Co-Authors

Familial aggregation of tinnitus: a European multicentre study (2007)

Huyghe, J. R., Demeester, K., Topsakal, V., Van Eyken, E., Fransen, E., ...

Introduction and aim: Tinnitus is a common condition affecting approximately 20% of the older population. There is increasing evidence that changes in the central auditory system following cochlear...

KCNQ4: a gene for age-related hearing impairment? (2006)

Van Eyken, E, Van Laer, L, Fransen, E, Topsakal, V, Lemkens, N, Laureys, W, ...

Age-related hearing impairment (ARHI) is the most common sensory impairment among the elderly. It is a complex disorder influenced by genetic as well as environmental factors. SNPs in a candidate...

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease (2004)

Van Hul, E, Van Driessche, K, Fransen, E, Devogelaer, J-P, Vanhoenacker, F, ...

A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial...

Positional cloning of a gene involved in hereditary multiple exostoses (1997)

Wuyts, Wim; U0031948, Van Hul, W, Wauters, Joost; U0007930, Nemtsova, M, Reyniers, E, Van Hul, E V, ...

Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors...

Genotype-phenotype correlation in L1 associated diseases.

Fransen, E, Van Camp, G, D'Hooge, R, Vits, L, Willems, P J

The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for...

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

Van Laer, L, Coucke, P, Mueller, R, Caethoven, G, Flothmann, K, Prasad, S, ...

Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of...