1-20 of 512
Section: Report
Journal Article
Genome-wide methylation patterns in normal and uniparental early mouse embryos Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 2983–2987, https://doi.org/10.1093/hmg/10.26.2983
Published: 15 December 2001
Journal Article
DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3001–3007, https://doi.org/10.1093/hmg/10.26.3001
Published: 15 December 2001
Journal Article
Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3075–3081, https://doi.org/10.1093/hmg/10.26.3075
Published: 15 December 2001
Journal Article
Effect of allelic variation at the NACP–Rep1 repeat upstream of the α-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3101–3109, https://doi.org/10.1093/hmg/10.26.3101
Published: 15 December 2001
Journal Article
SALL1, the gene mutated in Townes–Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3017–3024, https://doi.org/10.1093/hmg/10.26.3017
Published: 15 December 2001
Journal Article
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3037–3048, https://doi.org/10.1093/hmg/10.26.3037
Published: 15 December 2001
Journal Article
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3025–3035, https://doi.org/10.1093/hmg/10.26.3025
Published: 15 December 2001
Journal Article
Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3093–3099, https://doi.org/10.1093/hmg/10.26.3093
Published: 15 December 2001
Journal Article
The Leri–Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3083–3091, https://doi.org/10.1093/hmg/10.26.3083
Published: 15 December 2001
Journal Article
Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3009–3016, https://doi.org/10.1093/hmg/10.26.3009
Published: 15 December 2001
Journal Article
Glucocorticoid modulation of androgen receptor nuclear aggregation and cellular toxicity is associated with distinct forms of soluble expanded polyglutamine protein Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3063–3074, https://doi.org/10.1093/hmg/10.26.3063
Published: 15 December 2001
Journal Article
The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 3049–3062, https://doi.org/10.1093/hmg/10.26.3049
Published: 15 December 2001
Journal Article
Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1 Get access
Human Molecular Genetics, Volume 10, Issue 26, 15 December 2001, Pages 2989–3000, https://doi.org/10.1093/hmg/10.26.2989
Published: 15 December 2001
Journal Article
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2899–2905, https://doi.org/10.1093/hmg/10.25.2899
Published: 01 December 2001
Journal Article
A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2933–2944, https://doi.org/10.1093/hmg/10.25.2933
Published: 01 December 2001
Journal Article
LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1 Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2869–2877, https://doi.org/10.1093/hmg/10.25.2869
Published: 01 December 2001
Journal Article
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2917–2931, https://doi.org/10.1093/hmg/10.25.2917
Published: 01 December 2001
Journal Article
Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2953–2960, https://doi.org/10.1093/hmg/10.25.2953
Published: 01 December 2001
Journal Article
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2945–2951, https://doi.org/10.1093/hmg/10.25.2945
Published: 01 December 2001
Journal Article
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis Get access
Human Molecular Genetics, Volume 10, Issue 25, 1 December 2001, Pages 2879–2887, https://doi.org/10.1093/hmg/10.25.2879
Published: 01 December 2001
