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BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene,(More)
BACKGROUND Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. METHODS Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A. RESULTS Two novel heterozygous missense mutations in TUBA1A were identified:(More)
Fragile X syndrome is the most common monogenic cause of mental retardation in boys. It is always characterized clinically by moderate mental retardation and often by a long face with large everted ears and macro-orchidism. The causal mutation is an expansion of a CGG triplet repeat in a 5' exon of the FMR-1 gene in Xq27.3. We report here for the first time(More)
The introduction of intracytoplasmic sperm injection (ICSI) has raised concern about safety in terms of a possible increase in the incidence of major congenital malformations, chromosomal aberrations or developmental problems. The possible influence of genetic imprinting on an ICSI procedure has not yet been investigated. We therefore studied the(More)
Preimplantation genetic diagnosis (PGD) can be offered as an alternative to prenatal diagnosis (PND) to couples at risk of having a child with a genetic disease. The affected embryos are detected before implantation by fluorescent in situ hybridisation (FISH) for sexing (X-linked diseases) and chromosomal disorders (numerical and structural) or by(More)
UNLABELLED Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20(More)
The ubiquitin-specific protease 26 (USP26) gene is an X-linked gene specifically expressed in testis tissue. This gene is therefore a potential infertility gene. In order to analyse its possible involvement in spermatogenesis and infertility, 42 patients with Sertoli cell-only syndrome were analysed for mutations in this gene. We found four patients with(More)
The seasonal variation of 25-hydroxycholecalciferol and 1,25-dihydroxycholecalciferol was analyzed in 240 elderly subjects (mean age: 78 yr) in Belgium. Serum 25-hydroxycholecalciferol was lowest from February until May (mean levels less than 25 nmol/L). Summer peak levels were, however, not higher than nadir levels in younger control subjects. A seasonal(More)
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infection of the respiratory tract and pancreatic insufficiency. The first preimplantation genetic diagnosis (PGD) for CF was carried out in 1992. At our centre the first cycle was performed in 1993. However, the number of known CF mutations is >1000, so(More)
The results and rationale of using testicular and epididymal spermatozoa with intracytoplasmic sperm injection (ICSI) for severe cases of male infertility are reviewed. A total of 72 consecutive microsurgical epididymal sperm aspiration (MESA) cases were performed for congenital absence of the vas (CAV) and for irreparable obstructive azoospermia. ICSI was(More)