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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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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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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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A clinical study of patients with multiple isolated neurofibromas
aGenetics and Teratology Unit, Massachusetts General Hospital, Boston, MA, USA, bDepartments of Pathology and Neurosurgery, Massachusetts General Hospital, Boston, MA ...
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Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
4 Department of Radiology, South Manchester University Hospital Trust, Manchester, UK 5 Department of Medical Oncology, Christie Hospital, Manchester, UK Correspondence to: Professor D G Evans ...
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Comparison of X-chromosome inactivation patterns in multiple tissues from human females
Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics and University of Missouri - Kansas City School of Medicine, Kansas City, Missouri, USA Dr M G Butler, ...
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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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Identification of three novel frameshift mutations in patients with Friedreich's ataxia
*Hereditary Ataxia Research Group, Department of Molecular Genetics, Division of Biomedical Sciences, Sir Alexander Fleming Building, Imperial College School of Science Technology and Medicine, ...
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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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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Correspondence to Dr Ben J H M Poorthuis, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Room F0-220, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; ...
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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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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
Background Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is ...