The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...

Correspondence to Dr Louis C S Tan, Department of Neurology, National Neuroscience Institute, Singapore ; louis_tan{at}nni.com.sg and Dr Eng-King Tan, Department of Neurology, National Neuroscience ...

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 ...

Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing ...

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

Correspondence to M Alriyami, Department of Experimental Medicine, Research Institute of McGill University Health Centre, 1001 boul Decarie, Site Glen Pavilion E/ Block E, Mail Drop Point #EM0.3211 ...

The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...

1 Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK 2 Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK 3 Department of ...

Purpose To explore the molecular basis of familial, early onset, age-related macular degeneration (AMD) with diverse phenotypes, using whole exome sequencing (WES). Methods We performed WES on four ...

Correspondence to Dr Rosanna Weksberg, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; rweksb{at}sickkids.ca and Dr Brian Hon-Yin Chung, Department of ...

Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...

Department of Paediatric Endocrinology and Medical Genetics, Dr. von Hauner Children’s Hospital, University of Munich, Lindwurmstr. 4, 80337 Munich/Germany Background: The 22q13 deletion syndrome ...