jmg.bmj

Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease

Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the ...
jmg.bmj

Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia

A few genes have previously been identified in which very rare variants can have major effects on lipid levels. With principal components included as covariates there was a tendency for genes on the X ...
jmg.bmj

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

3 Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 4 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The ...
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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

1 Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Limburg, Netherlands 2 Department of Obstetrics & Gynaecology Maastricht University Medical Centre, Maastricht ...
jmg.bmj

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Background Genomic imprinting is allelic restriction of gene expression potential depending on parent of origin, maintained by epigenetic mechanisms including parent of origin-specific DNA methylation ...
jmg.bmj

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

4 Division of Nephrology and Dialysis, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome, Italy 5 Molecular Medicine Unit, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome ...