Bernadette Van Roy

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Kristel De Boulle, Annemieke J.M.H. Verkerk, Edwin Reyniers et al. · Nature Genetics · 1993 · 619 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +10

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

Edwin Reyniers, Lieve Vits, Kristel De Boulle et al. · Nature Genetics · 1993 · 303 citations

Spermatogenesis, Infertility, Developmental Biology +14

Segregation of the fragile X mutation from an affected male to his normal daughter

Patrick J. Willems, Bernadette Van Roy, Kristel De Boulle et al. · Human Molecular Genetics · 1992 · 58 citations

Cytogenetics, Genetics, Molecular Biology +16

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Guy Van Camp, Marie Neëlle Van Thienen, Ingrid Handig et al. · Journal of Medical Genetics · 1995 · 42 citations · Full text

Developmental Anomaly, Type 1, Neural Crest Function +13

Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia

Julien R. Lambert, Patrick J. Willems, Roger Abs et al. · Journal of the American Academy of Dermatology · 1994 · 38 citations

Mendelian Disorder, Chromosomal Mosaicism, Genetic Disorder +5