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 ...

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 ...

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 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 ...

As the variability and possible clinical significance of palm increase abnormalities receive greater attention, an accurate and objective method for evaluating the ...

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 ...

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 ...

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 ...

Clinical Genetics Unit, Birmingham Maternity Hospital, Edgbaston, UK. We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, ...

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 ...

A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both ...