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 ...

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 ...

September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing!Over the past 6 decades, we have established ourselves as a trusted ...

17 Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France 18 Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland Lynch syndrome ...

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...

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 ...

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 ...

Background Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with ...

35 Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain This is an open access article ...

Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...

1 The Congenital Anomalies Research Centre (CIAC), Institute of Health Carlos III (ISCIII), Madrid, Spain 2 The CIBER de Enfermedades Raras (CIBERER)(Centre for Biomedical Research on Rare Diseases), ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...