Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ ...
Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, ...
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP ...
Background Knowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and their relatives. Our objective was to ...
* Members of the consortia are listed in the Supplemental Appendix. Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum ...
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease ...
Correspondence to Professor Rebecca C Fitzgerald, MRC Cancer Unit, Hutchison/MRC Research Centre, University of Cambridge, Hills Road, Cambridge CB2 OXZ, UK; rcf29{at}MRC-CU.cam.ac.uk Increasing ...
Dr A Botta, Tor Vergata University of Rome, Department of Biopathology, Via Montpellier, 1, 00133 Rome, Italy; abottait{at}yahoo.it Aim: To investigate the effects of CTG expansion length on three ...
Correspondence to Dr Daryl A Scott, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; dscott{at}bcm.edu Background Congenital diaphragmatic hernia (CDH) ...
Background von Hippel-Lindau (vHL) syndrome is a rare autosomal-dominant disorder that confers a lifelong risk for developing both benign and malignant tumours in multiple organs. Recent evidence ...
Correspondence to Dr Volker M Lauschke, Department of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, SE-171, Sweden; volker.lauschke{at}ki.se Background ...
Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...
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