Publications
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Vrije Universiteit Brussel
Lack of genotype-phenotype correlation in basal cell nevus syndrome Vrije Universiteit Brussel
Genotype-phenotype correlation in pseudoxanthoma elasticum Ghent University
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure Ghent University
Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers Hasselt University University of Antwerp Vrije Universiteit Brussel
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation KU Leuven Ghent University
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844U+2013848 Ghent University KU Leuven University of Antwerp
Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Vrije Universiteit Brussel University of Antwerp
INTRODUCTION: DFNA9 is characterized by adult-onset progressive sensorineural hearing loss (SNHL) and vestibular impairment. More than 15 years ago, genotype-phenotype correlation studies estimated the initial age of hearing deterioration in the fourth to fifth decade (ranging from 32 to 43 years). However, these analyses were based on relatively limited numbers of mainly symptomatic carriers using markedly different methodologies. The ...
Genotype-phenotype correlation for DFNA22 Vrije Universiteit Brussel University of Antwerp
Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all tested frequencies with statistically significant progression. In family 2 eleven subjects were affected with mild to moderate SNHL starting in ...