Human Molecular Genetics

Title Publication Date Language Citations
The Rb/E2F pathway and cancer2001/04/01630
Parkinson's disease: from monogenic forms to genetic susceptibility factors2009/04/15English627
Mitochondrial transcription factor A regulates mtDNA copy number in mammals2004/03/03English619
Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations2005/06/29English612
Single base polymorphism in the human Tumour Necrosis Factor alpha (TNFα) gene detectable by Ncol restriction of PCR product1992/01/01English607
Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer2001/04/01596
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs2006/11/29English582
The ABC of APC2001/04/01581
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry2018/09/14English580
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene1992/01/01English580
Heterogeneity in telomere length of human chromosomes1996/05/01570
Genome-wide association study of circulating vitamin D levels2010/04/23English563
Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with mitochondrial protein Drp1 in neurons from patients with Alzheimer's disease: implications for neuronal damage2011/03/31English560
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease2003/07/01English558
Regional and cellular gene expression changes in human Huntington's disease brain2006/02/08English539
Genetic control of the circulating concentration of transforming growth factor type beta11999/01/01533
Parkinson's disease2007/07/31English522
Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged11999/05/01English519
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy2000/02/12519
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat2000/03/01518
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)2001/02/01514
Long-term persistence of plasmid DNA and foreign gone expression in mouse muscle1992/01/01English504
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry1996/07/01497
A window into third-generation sequencing2010/09/21English495
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma2000/11/01495
Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy1999/04/01English490
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells2002/03/01489
BACE knockout mice are healthy despite lacking the primary beta-secretase activity in brain: implications for Alzheimer's disease therapeutics2001/06/01488
The survival motor neuron protein in spinal muscular atrophy1997/08/01488
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts2002/10/02481