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A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06984-0
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- Article
Human protein-coding genes and gene feature statistics in 2019.
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- BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-019-4343-8
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On the length, weight and GC content of the human genome.
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- BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-019-4137-z
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- Article
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5‐methyl‐tetrahydrofolate and 5‐formyl‐tetrahydrofolate.
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- Journal of Cellular Physiology, 2019, v. 234, n. 9, p. 15010, doi. 10.1002/jcp.28140
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Complexity of Bidirectional Transcription and Alternative Splicing at Human RCAN3 Locus.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024508
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- Article
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association.
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- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01422-6
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- Article
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).
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- Human Genetics, 2000, v. 107, n. 3, p. 225, doi. 10.1007/s004390000357
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- Article
Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?
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- Brain Sciences (2076-3425), 2021, v. 11, n. 5, p. 655, doi. 10.3390/brainsci11050655
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- Article
GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics.
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- Database: The Journal of Biological Databases & Curation, 2016, v. 2016, p. 1, doi. 10.1093/database/baw153
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- Article
Characterization of human gene locus CYYR1: a complex multi-transcript system.
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- Molecular Biology Reports, 2014, v. 41, n. 9, p. 6025, doi. 10.1007/s11033-014-3480-3
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- Article
Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS).
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/s12920-014-0063-z
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- Article
Uncertainty principle of genetic information in a living cell.
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- Theoretical Biology & Medical Modelling, 2005, v. 2, p. 40, doi. 10.1186/1742-4682-2-40
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- Article
Systematic identification of human housekeeping genes possibly useful as references in gene expression studies.
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- Molecular Medicine Reports, 2017, v. 16, n. 3, p. 2397, doi. 10.3892/mmr.2017.6944
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- Article
A molecular view of the normal human thyroid structure and function reconstructed from its reference transcriptome map.
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- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4049-z
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- Article
The transcriptome profile of human trisomy 21 blood cells.
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- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00325-4
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- Article
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.797
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- Article
MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme‐based method improving previous protocols.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.628
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- Article
One-carbon pathway and cognitive skills in children with Down syndrome.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83379-7
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- Article
Plasma metabolome and cognitive skills in Down syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67195-z
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- Article
Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00125
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- Article
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
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- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2525, doi. 10.1093/hmg/ddw116
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- Article
Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart.
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- Journal of Cellular Physiology, 2017, v. 232, n. 4, p. 759, doi. 10.1002/jcp.25471
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- Article
Improving mRNA 5′ coding sequence determination in the mouse genome.
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- Mammalian Genome, 2014, v. 25, n. 3/4, p. 149, doi. 10.1007/s00335-013-9498-3
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- Article
Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q.
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- Mammalian Genome, 2002, v. 13, n. 8, p. 456, doi. 10.1007/s00335-001-2157-0
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- Article
Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.770359
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- Article
Systematic analysis of mRNA 5' coding sequence incompleteness in Danio rerio: an automated EST-based approach.
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- Biology Direct, 2007, v. 2, p. 34, doi. 10.1186/1745-6150-2-34
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- Article
A Quantitative Transcriptome Reference Map of the Normal Human Hippocampus.
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- Hippocampus, 2016, v. 26, n. 1, p. 13, doi. 10.1002/hipo.22483
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- Article
One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.
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- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2022.1006891
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- Article
Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1362501
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- Article
Difficulty in obtaining the complete mRNA coding sequence at 5' region (5' end mRNA artifact): Causes, consequences in biology and medicine and possible solutions for obtaining the actual amino acid sequence of proteins (Review).
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- International Journal of Molecular Medicine, 2017, v. 39, n. 5, p. 1063, doi. 10.3892/ijmm.2017.2942
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TRAM (Transcriptome Mapper): database-driven creation and analysis of transcriptome maps from multiple sources.
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- BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-121
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- Article
TRAM (Transcriptome Mapper): database-driven creation and analysis of transcriptome maps from multiple sources.
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- BMC Genomics, 2011, v. 12, n. 1, p. 121, doi. 10.1186/1471-2164-12-121
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- Article
A quantitative transcriptome reference map of the normal human brain.
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- Neurogenetics, 2014, v. 15, n. 4, p. 267, doi. 10.1007/s10048-014-0419-8
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- Article
The functional roles of S‐adenosyl‐methionine and S‐adenosyl‐homocysteine and their involvement in trisomy 21.
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- Biofactors, 2024, v. 50, n. 4, p. 709, doi. 10.1002/biof.2044
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Identification of minimal eukaryotic introns through GeneBase, a user-friendly tool for parsing the NCBI Gene databank.
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- DNA Research, 2015, v. 22, n. 6, p. 495, doi. 10.1093/dnares/dsv028
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- Article