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Cancer immunotherapy: challenges and clinical applications
Correspondence to Dr Xiao-Jie Lu, Department of General Surgery, Liver Transplantation Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; 189{at}whu.edu.cn ...
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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
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 ...
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Prenatal diagnosis of the common haemoglobin disorders.
New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of ...
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A new case of proximal 10q partial trisomy.
Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima. We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to ...
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Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
Abstract We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin ...
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The fragile X prevalence paradox
Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis 95616, USA Professor P J Hagerman, Department of Biochemistry and Molecular Medicine, University ...
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A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
3 Department of Neurosciences, S Antonio University Hospital, Padova, Italy 4 Department of Anaesthesia, S Antonio University Hospital, Padova, Italy Correspondence to: Professor V Sorrentino ...
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Multiregion whole-genome sequencing depicts intratumour heterogeneity and punctuated evolution in ovarian clear cell carcinoma
Background Ovarian clear cell carcinoma (OCCC) arises from endometriosis and represents a difficult-to-treat gynaecological malignancy, in part, because its spatial intratumour heterogeneity and ...
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Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer
‡ Department of Public Health and Community Medicine, University of Sydney, NSW 2006, Australia If you wish to reuse any or all of this article please use the link ...
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Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis
Chromosomal rearrangements involving the ends of chromosomes (telomeres) are emerging as an important cause of human genetic diseases. This review describes the development of first and second ...
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Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK. We describe three families segregating different reciprocal chromosome ...