jmg.bmj19h
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 ...
jmg.bmj2d
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 ...
jmg.bmj2d
Variant reclassification and clinical implications
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...
jmg.bmj3d
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 ...
jmg.bmj4d
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 ...
jmg.bmj4d
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, ...
jmg.bmj6d
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, ...
jmg.bmj6d
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 ...
jmg.bmj8d
Congenital, hypotonic-sclerotic muscular dystrophy.
Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and ...
jmg.bmj9d
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 ...
jmg.bmj9d
Missense mutations of ACTA1 cause dominant congenital myopathy with cores
2 Department of Neuropediatrics, Charité, University Medical School Berlin, Berlin, Germany 3 Institute of Medical Genetics, Charité, University Medical School Berlin, Berlin, Germany 4 Institute of ...
jmg.bmj9d
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
Correspondence to: Dr William C Nichols Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229, USA; bill.nicholscchmc.org ...