A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

1 Department of Radiology, Great Ormond Street Hospital for Children, London, UK 2 SW Thames Regional Genetics Service and Department of Perinatal Pathology, St George’s Hospital Medical School, ...

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 ...

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 ...

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 ...

Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...