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Human Molecular Genetics
Title
Publication Date
Language
Citations
The Rb/E2F pathway and cancer
2001/04/01
630
Parkinson's disease: from monogenic forms to genetic susceptibility factors
2009/04/15
English
627
Mitochondrial transcription factor A regulates mtDNA copy number in mammals
2004/03/03
English
619
Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations
2005/06/29
English
612
Single base polymorphism in the human Tumour Necrosis Factor alpha (TNFα) gene detectable by Ncol restriction of PCR product
1992/01/01
English
607
Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer
2001/04/01
596
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs
2006/11/29
English
582
The ABC of APC
2001/04/01
581
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
2018/09/14
English
580
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene
1992/01/01
English
580
Heterogeneity in telomere length of human chromosomes
1996/05/01
570
Genome-wide association study of circulating vitamin D levels
2010/04/23
English
563
Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with mitochondrial protein Drp1 in neurons from patients with Alzheimer's disease: implications for neuronal damage
2011/03/31
English
560
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease
2003/07/01
English
558
Regional and cellular gene expression changes in human Huntington's disease brain
2006/02/08
English
539
Genetic control of the circulating concentration of transforming growth factor type beta1
1999/01/01
533
Parkinson's disease
2007/07/31
English
522
Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged1
1999/05/01
English
519
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
2000/02/12
519
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
2000/03/01
518
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
2001/02/01
514
Long-term persistence of plasmid DNA and foreign gone expression in mouse muscle
1992/01/01
English
504
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry
1996/07/01
497
A window into third-generation sequencing
2010/09/21
English
495
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
2000/11/01
495
Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy
1999/04/01
English
490
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
2002/03/01
489
BACE knockout mice are healthy despite lacking the primary beta-secretase activity in brain: implications for Alzheimer's disease therapeutics
2001/06/01
488
The survival motor neuron protein in spinal muscular atrophy
1997/08/01
488
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts
2002/10/02
481
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