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Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore
3 Department of Dermatology, KK Women's and Children’s Hospital, Singapore 4 Genetics Service, KK Women's and Children’s Hospital, Singapore Background Neurofibromatosis type 1 (NF1) is a ...
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
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Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus
Correspondence to Professor Zhiguang Zhou, Department of Metabolism and Endocrinology, Second Xiangya Hospital, Changsha 410011, China; zhouzhiguang{at}csu.edu.cn; Professor Zhiguo Xie, Department of ...
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DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
Using a test based on parent of origin specific DNA methylation at the D15S63 (PW71) locus, we studied 385 patients (aged 1 to 36 years) for diagnostic confirmation of Prader-Willi syndrome (PWS) and ...
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Genetics of Parkinson’s disease and related disorders
Correspondence to Dr Pei-Lan Zhang, Department of Neurology, Tianjin Huanhu Hospital, Jinnanqu, Tianjin 300350, P.R. China; peilanzhng{at}sina.com and Dr Pedro Fernandez-Funez, Department of ...
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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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Topographic approach for analysis of palm crease variants.
As the variability and possible clinical significance of palm increase abnormalities receive greater attention, an accurate and objective method for evaluating the palm increase variants is required.
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Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
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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Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Correspondence to Professor Tiong Yang Tan, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; tiong.tan{at}vcgs.org.au Background Clinical ...
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Melanocortin-1 receptor gene variants affect pain and μ-opioid analgesia in mice and humans
Background: A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on κ-opioid receptor mediated analgesia. It is unclear whether this ...
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Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
Correspondence to Dr Hagit Baris Feldman, The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; hb_feldman{at}rambam.health.gov.il Background Chromosomal instability, as reflected ...