Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands Correspondence to: F A Sayed-Tabatabaei Department of Epidemiology and Biostatistics, Erasmus Medical ...

Background Hereditary cystic kidney diseases such as nephronophthisis, polycystic kidney disease and Bardet-Biedl syndrome (BBS) are caused by a dysfunction of primary cilia. Cilia are involved in a ...

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 ...

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: A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several ...

1 Discipline of Genetics, Memorial University of Newfoundland, St John's, Newfoundland, Canada 2 Discipline of Pediatrics Memorial University of Newfoundland, St John's, Newfoundland, Canada 3 ...

We performed a genetic analysis of 280 families with congenital indirect inguinal hernia ascertained in Shandong province. The multifactorial threshold model and segregation analysis were applied to ...

Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue ...

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 ...

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 ...

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 ...

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 ...