Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.
Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first ...
Exploring the clinical and mutational spectrum of MORC2-associated disorders ...
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
Correspondence to Dr Qing Liu, Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China; drliuqing{at}126.com; Dr Mengyang Wang; ...
Correspondence to Dr Satomi Mitsuhashi, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo ...
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan Background: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2).
16 Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada 17 McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada 18 Children's Hospital at London ...
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised ...
aServicio de Genética, Fundación Jimenez-Diaz, Av Reyes Catolicos 2, Madrid 28040, Spain, bDepartment of Cellular Biology, Universidad Complutense, Madrid, Spain If you wish to reuse any or all of ...
Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
1 Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Genetic and Molecular Biology Branch, National Human Genome ...
Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...
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