jmg.bmj1d
Murine candidate bleomycin induced pulmonary fibrosis susceptibility genes identified by gene expression and sequence analysis of linkage regions
1 Meakins-Christie Laboratories and Department of Medicine, McGill Centre for Bioinformatics, McGill University, Montreal, Canada 2 School of Computer Science, McGill University, Montreal, Canada ...
jmg.bmj2d
The XY Gonadal Agenesis Syndrome
Department of Gynecology, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin, USA Department of Obstetrics, University of Wisconsin Center for Health Sciences ...
jmg.bmj4d
Cardiovascular manifestations in 75 patients with Williams syndrome
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...
jmg.bmj4d
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles
The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...
jmg.bmj5d
Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study
1 Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Room 7022, Executive Plaza South, 6120 Executive Blvd, Rockville, MD 20852, USA 2 Department ...
jmg.bmj5d
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury
1 Public Health Genetics Program, University of Washington, Seattle, WA 98195, USA 2 Department of Pathology, University of Washington, Seattle, WA 98195, USA 3 Department of Medicine, University of ...
jmg.bmj6d
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Correspondence to Dr Francesca Maltecca, Division of Genetics and Cell Biology IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Via Olgettina 58, Milan 20132, Italy; ...
jmg.bmj6d
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often ...
jmg.bmj7d
Reproductive counselling for women with myotonic dystrophy
1 Regional Genetics Service, A Floor, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB, Northern Ireland 2 Department of Medical Genetics, The Queen's University of Belfast, Lisburn Road, ...
jmg.bmj7d
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...
jmg.bmj8d
Under-recognised neurocognitive deficits in adults and adolescents with tuberous sclerosis complex
Background Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to ...