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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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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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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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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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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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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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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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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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Consanguinity among the Saudi Arabian population.
This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and ...
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Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Department of Pathology, Keio University School of Medicine, Tokyo, Japan. The WT1 gene, one of the genes responsible for Wilms tumour, is thought to play a crucial role in the development of the ...
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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 ...
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RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
Academic Unit of Anaesthesia, Clinical Sciences Building, St James University Hospital, Leeds, UK Correspondence to: R Robinson Academic Unit of Anaesthesia, MH Unit, Clinical Sciences Building, St ...