Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome ...
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...
Correspondence to Dr Chantal Babb de Villiers, PHG Foundation, University of Cambridge, Cambridge CB1 8RN, UK; chantal.babbdevilliers{at}phgfoundation.org The use of genomic information to better ...
This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and ...
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...
Background The multifactorial Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) breast cancer risk prediction model has been recently extended to consider ...
A familial reciprocal translocation t(6p+;11q−) is presented, unbalanced (6p+) in the craniorachischisic propositus and balanced in his phenotypically normal father, associated with relative ...
4 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 5 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands 6 ...
1 Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Worcester, MA 01605, USA 2 Department of Cell Biology, University of Massachusetts Medical School, ...
Correspondence to Mr Thomas P Potjer, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; T.P.Potjer{at}lumc.nl Background Pathogenic variants in the CDKN2A ...
Dyslexia is among the most common neurodevelopmental disorders, with a prevalence of 5–12%. At the phenotypic level, various cognitive components that enable reading and spelling and that are ...
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...
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