RL
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing | Investigative ophthalmology & visual science |  | 2011 | 616 | 0 | ||
| Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres | Journal of neuroscience research | | 2009 | 655 | 0 | ||
| Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 | European journal of human genetics | | 2009 | 735 | 0 | ||
| Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 | Mammalian genome |  | 2008 | 706 | 366 | ||
| Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells | GenomeBiology.com | | 2008 | 658 | 421 | ||
| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | 2008 | 749 | 0 | ||
| DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome | American journal of human genetics | | 2008 | 638 | 0 | ||
| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | 2008 | 722 | 4 | ||
| Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance | American journal of human genetics | | 2007 | 705 | 0 | ||
| Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 | Genome research | | 2007 | 643 | 0 | ||
| Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region | American journal of medical genetics. Part A | | 2006 | 708 | 0 | ||
| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | 2006 | 688 | 0 | ||
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes | American journal of human genetics | | 2006 | 678 | 0 | ||
| Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation | American journal of medical genetics. Part A | | 2006 | 605 | 0 | ||
| Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes | Human molecular genetics | | 2005 | 600 | 0 | ||
| Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis | Proceedings of the National Academy of Sciences of the United States of America | | 2005 | 671 | 0 | ||
| Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro | Human mutation | | 2005 | 671 | 0 | ||
| The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome | Human molecular genetics | | 2005 | 627 | 0 | ||
| L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique | Revue médicale suisse | | 2005 | 569 | 1 | ||
| Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome | Genome research | | 2004 | 568 | 0 | ||
| Chromosome 21 and down syndrome: from genomics to pathophysiology | Nature reviews. Genetics | | 2004 | 790 | 0 | ||
| Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes | Proceedings of the National Academy of Sciences of the United States of America | | 2003 | 675 | 0 | ||
| The TPTE gene family: cellular expression, subcellular localization and alternative splicing | Gene | | 2003 | 711 | 0 | ||
| Chromosome 21 and Down syndrome: the post-sequence era | Cold Spring Harbor Symposia on Quantitative Biology | 2003 | 565 | 0 | |||
| A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 | Human molecular genetics | | 2003 | 653 | 0 | ||
| Numerous potentially functional but non-genic conserved sequences on human chromosome 21 | Nature | | 2002 | 606 | 0 | ||
| Chromosome 21: a small land of fascinating disorders with unknown pathophysiology | The International journal of developmental biology | | 2002 | 546 | 0 | ||
| Nineteen additional unpredicted transcripts from human chromosome 21 | Genomics | | 2002 | 732 | 0 | ||
| Human chromosome 21 gene expression atlas in the mouse | Nature | | 2002 | 621 | 0 | ||
| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family | Human genetics | | 2001 | 599 | 347 | ||
| From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map | Genomics | | 2001 | 629 | 0 | ||
| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains | Human genetics | | 2001 | 646 | 0 | ||
| Differential gene expression studies to explore the molecular pathophysiology of Down syndrome | European journal of pediatrics | | 2001 | 594 | 0 | ||
| Isolation and initial characterization of the mouse Dnmt3l gene | Cytogenetics and cell genetics | | 2001 | 505 | 0 |
