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Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...
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Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...
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Online First
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ...
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Nail patella syndrome: a review of the phenotype aided by developmental biology
1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
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Endocardial fibroelastosis: possible X linked inheritance.
We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There ...
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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
Ms F Zahir, Medical Genetics Research Unit, University of British Columbia, Box 153, Children’s and Women’s Hospital, 4500 Oak Street, Vancouver, BC, Canada, V6H 3N1; farahz{at}interchange.ubc.ca The ...
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Neuroferritinopathy in a French family with late onset dominant dystonia
1 Department of Neurology, The University of Newcastle upon Tyne, UK 2 Institute of Human Genetics, The University of Newcastle upon Tyne, UK 3 Department of Radiology, Newcastle upon Tyne Hospitals ...
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Mitochondrial myopathy: a genetic study of 71 cases.
Department of Clinical Neurology, Institute of Neurology and National Hospital for Nervous Diseases, London. Of 71 index cases with histologically defined mitochondrial myopathy, 13 (18%) had ...
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Splicing in action: assessing disease causing sequence changes
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...
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The face of Smith-Magenis syndrome: a subjective and objective study
We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...
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Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma
Correspondence to Dr Chad D. Huff, Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA; CHuff1{at}mdanderson.org Purpose The contribution of rare ...