We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A ...
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ...
Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter-- ...
1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...
Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Background Genome-wide association studies have identified >30 common SNPs associated with epithelial ovarian cancer (EOC). We evaluated the combined effects of EOC susceptibility SNPs on predicting ...
Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from PTEN pathogenic variants. Missense variants account for 30% of PHTS cases, but ...
Correspondence to: Dr P Carmeliet Centre for Transgene Technology and Gene Therapy, Flanders Interuniversitary Institute for Biotechnology, KULeuven, Campus ...
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