jmg.bmj11h
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...
jmg.bmj18h
Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research
Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
jmg.bmj4d
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
Laboratory of Molecular Psychiatry & Neurogenetics, University Campus Bio-Medico, Rome, Italy and Department of Experimental Neurosciences, IRCCS. “Fondazione Santa Lucia”, Rome, Italy Dr A M Persico, ...
jmg.bmj4d
Recurrence risk for germinal mosaics revisited.
A formula to calculate recurrence risk for germline mosaicism published by Hartl in 1971 has been updated to include marker information. For practical genetic counselling new, more elaborate tables ...
jmg.bmj3d
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
2 Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA 3 Hearing Section, National Institute on Deafness and ...
jmg.bmj1d
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene
Correspondence to Dr Florentia Fostira, Molecular Diagnostics Laboratory, National Centre for Scientific Research NCSR Demokritos, Athens 15310, Greece; florentia_fostira{at}hotmail.com Background ...
jmg.bmj6d
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors
Background: Huntington’s disease is caused by expansion of a polyglutamine tract found in the amino-terminal of the ubiquitously expressed protein huntingtin. Well studied in its mutant form, ...
jmg.bmj6d
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders
4 Unitè de gènètique molèculaire, Groupe hospitalier Necker Enfants malades, Assistance Publique -Hôpitaux de Paris, Paris, France 5 Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, ...
jmg.bmj3d
Growth in North American white children with neurofibromatosis 1 (NF1)
OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN Cross sectional database survey.
jmg.bmj5d
Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region
The 11p15 region is organised into two independent imprinted domains controlled by imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 genomic imprinting results ...