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Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...
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Friedreich ataxia: an overview
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 ...
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Six at Sixty. ‘Have you tested for 22q?’
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 ...
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Collagen VI related muscle disorders
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 ...
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An investigation of ACE as a risk factor for dementia and cognitive decline in the general population
1 Department of Public Health and Primary Care, University Forvie Site, Robinson Way, Cambridge CB2 2SR, UK 2 Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC ...
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Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
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 ...
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Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
2 Trinity College Institute of Neuroscience, Trinity College, Dublin, Ireland 3 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland 4 TrinSeq, Institute of Molecular ...
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Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
Correspondence to Dr Hidenobu Soejima, Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga 849-8501, Japan; soejimah{at}cc.saga ...
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Fragile X syndrome: from molecular genetics to therapy
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 ...
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Current Issue
Original research: National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy (28 November, 2024) ...
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Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome
Introduction Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal ...
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Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries
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 ...