Jean‐Pierre Fryns

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Alexandre Irrthum, Koenraad Devriendt, David Chitayat et al. · The American Journal of Human Genetics · 2003 · 428 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

PTEN mutation in a family with Cowden syndrome and autism

Aleide Goffin, Lies H. Hoefsloot, Ermanno Bosgoed et al. · American Journal of Medical Genetics · 2001 · 216 citations

Medicine, Genetics, Molecular Genetics +17

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence <i>in situ</i> hybridisation (FISH)

Ingrid Witters, Koenraad Devriendt, Eric Legius et al. · Prenatal Diagnosis · 2002 · 135 citations

Life Sciences, Genetics, Obstetrics +17

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

Henk Meljer, Esther de Graaff, Diane M.L. Merckx et al. · Human Molecular Genetics · 1994 · 130 citations

Life Sciences, Genetics, Molecular Genetics +7

Congenital pulmonary lymphangiectasis with chylothorax: A heterogeneous lymphatic vessel abnormality

Philippe Moerman, Kamiel Vandenberghe, Hugo Devlieger et al. · American Journal of Medical Genetics · 1993 · 100 citations

Medicine, Pathology, Pediatrics +17