Original research: National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy (28 November, 2024) ...

Background and aims Neurofibromatosis–Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan ...

Background The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a ...

Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome ...

Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...

1 Department of Medical Genetics, University of Cambridge and Addenbrooke’s NHS Hospital Trust, Cambridge, UK 2 Department of Ophthalmology, Addenbrooke’s NHS Hospital Trust, Cambridge, UK 3 ...

Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be Fragile X syndrome, the main cause of inherited ...

Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...

OBJECTIVES Recent data suggest that wild type huntingtin can protect against apoptosis in the testis of mice expressing full length huntingtin transgenes with expanded CAG repeats. It is not clear if ...

Department of Dermatology, Columbia University Medical Center, New York, USA Correspondence to: Dr Julide Tok Celebi Department of Dermatology, Columbia University, 630 West 168th Street, VC-15-202, ...