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European Journal of Human Genetics : EJHG|August 13, 2002
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)Geneviève Michils, Sabine Tejpar, Jean-Pierre Fryns, et al.
Molecular Cytogenetics|April 12, 2012
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicismCaroline Robberecht, Thierry Voet, Gülen E Utine, et al.
Developmental Medicine and Child Neurology|November 18, 2005
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defectAnn Swillen, Hilde Feys, Tamara Adriaens, et al.
Human Mutation|October 2, 2010
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletionsFemke Hannes, Jeroen Van Houdt, Oliver W Quarrell, et al.
European Journal of Medical Genetics|April 29, 2008
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGHEda G Utine, Yasemin Alanay, Dilek Aktas, et al.
European Journal of Human Genetics : EJHG|January 25, 2007
The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutationMarleen Decruyenaere, Gerry Evers-Kiebooms, Andrea Boogaerts, et al.
Prenatal Diagnosis|January 26, 2002
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)Ingrid Witters, K Devriendt, E Legius, et al.
Journal of Medical Genetics|July 9, 2010
Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactylyBoyan Ivanov Dimitrov, Thierry Voet, Luc De Smet, et al.
Journal of Children'S Orthopaedics|March 25, 2009
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactylyPhilippe Debeer, Koen Devriendt, Luc De Smet, et al.
Human Mutation|January 12, 2005
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian studyGeneviève Michils, Sabine Tejpar, Reinhilde Thoelen, et al.
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