Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

In 1997, the Journal of Medical Genetics published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...

Initial reports of patients with laminin α2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle ...

Charcot-Marie-Tooth disease (CMT) is one of the most common Mendelian disorders characterised by genetic heterogeneity, progressive distal muscle weakness and atrophy, foot deformities and distal ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

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

Background Targeted cystic fibrosis (CF) carrier screening panels may lack sensitivity in non-European ancestry groups. This study aims to evaluate the sensitivity of various panels in Australian CF ...

Introduction Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...