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PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis.
- Published in:
- Molecular Carcinogenesis, 2012, v. 51, n. 11, p. 895, doi. 10.1002/mc.20859
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- Article
Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers.
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- Human Genetics, 2011, v. 130, n. 6, p. 789, doi. 10.1007/s00439-011-1039-0
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- Article
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.
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- Human Genetics, 2011, v. 129, n. 6, p. 663, doi. 10.1007/s00439-011-0957-1
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- Article
Molecular signatures of metastasis in head and neck cancer.
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- Head & Neck, 2008, v. 30, n. 10, p. 1273, doi. 10.1002/hed.20871
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- Article
Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early-stage nonsmall cell lung cancers.
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- Cancer (0008543X), 2011, v. 117, n. 3, p. 606, doi. 10.1002/cncr.25472
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- Article
Mesenchyme-specific overexpression of nucleolar protein 66 in mice inhibits skeletal growth and bone formation.
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- FASEB Journal, 2015, v. 29, n. 6, p. 2555, doi. 10.1096/fj.14-258970
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- Article
Expression and fine mapping of murine vasoactive intestinal peptide receptor 1.
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- Journal of Molecular Neuroscience, 2001, v. 17, n. 3, p. 311, doi. 10.1385/JMN:17:3:311
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- Article
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
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- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 776, doi. 10.1038/ejhg.2011.23
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- Article
Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families.
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- European Journal of Human Genetics, 2001, v. 9, n. 10, p. 773, doi. 10.1038/sj.ejhg.5200717
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- Article
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.
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- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 757, doi. 10.1038/sj.ejhg.5200529
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- Article
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
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- Acta Neuropathologica, 2010, v. 119, n. 4, p. 465, doi. 10.1007/s00401-010-0637-6
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- Article
Osteoblast-Specific Overexpression of Nucleolar Protein NO66/RIOX1 in Mouse Embryos Leads to Osteoporosis in Adult Mice.
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- Journal of Osteoporosis, 2023, v. 2023, p. 1, doi. 10.1155/2023/8998556
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- Article
The intrinsic factor?vitamin B<sub>12</sub> receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.
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- Nature Medicine, 1999, v. 5, n. 6, p. 656, doi. 10.1038/9504
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- Article
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
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- Journal of Neurology, 2008, v. 255, n. 11, p. 1731, doi. 10.1007/s00415-008-0010-z
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- Article
Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population.
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- Genetic Epidemiology, 2001, v. 20, n. 2, p. 239, doi. 10.1002/1098-2272(200102)20:2<239::AID-GEPI6>3.0.CO;2-Y
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- Article
Theoretical and experimental comparisons of gene expression indexes for oligonucleotide arrays.
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- Bioinformatics, 2002, v. 18, n. 11, p. 1470, doi. 10.1093/bioinformatics/18.11.1470
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- Article
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.
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- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0231000
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- Article
Analysis of mutational dynamics at the DMPK (CTG)<sub>n</sub> locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.
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- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216407
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- Article
Mesenchymal Deletion of Histone Demethylase NO66 in Mice Promotes Bone Formation.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 9, p. 1608, doi. 10.1002/jbmr.2494
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- Article
A p53-Pax2 Pathway in Kidney Development: Implications for Nephrogenesis.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044869
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- Article
Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042334
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- Article
Effects of MDM2, MDM4 and TP53 Codon 72 Polymorphisms on Cancer Risk in a Cohort Study of Carriers of TP53 Germline Mutations.
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- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010813
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- Article
ZNF9 Activation of IRES-Mediated Translation of the Human ODC mRNA Is Decreased in Myotonic Dystrophy Type 2.
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- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009301
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- Article
Genome-Wide Hypomethylation in Head and Neck Cancer Is More Pronounced in HPV-Negative Tumors and Is Associated with Genomic Instability.
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- PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0004941
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- Article
Mutations in KERA, encoding keratocan, cause cornea plana.
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- Nature Genetics, 2000, v. 25, n. 1, p. 91, doi. 10.1038/75664
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- Article
Mutations in CUBN, encoding the intrinsic factor-vitamin B<sub>12</sub> receptor, cubilin, cause hereditary megaloblastic anaemia 1.
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- Nature Genetics, 1999, v. 21, n. 3, p. 309, doi. 10.1038/6831
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- Article
Genome-wide imaging association study implicates functional activity and glial homeostasis of the caudate in smoking addiction.
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- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4124-5
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- Article
Genome-wide loss of heterozygosity analysis of WT1wild-type and WT1-mutant Wilms tumors.
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- Genes, Chromosomes & Cancer, 2005, v. 43, n. 2, p. 172
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- Article
Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs.
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- Genes, Chromosomes & Cancer, 2001, v. 30, n. 1, p. 38, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1052>3.0.CO;2-S
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- Article
Splicing factors PTBP1 and PTBP2 promote proliferation and migration of glioma cell lines.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 8, p. 2277, doi. 10.1093/brain/awp153
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- Article
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1497, doi. 10.1093/brain/awm068
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- Article
Genetically heterogeneous selective intestinal malabsorption of vitamin B<sub>12</sub>: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
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- Human Mutation, 2004, v. 23, n. 4, p. 327, doi. 10.1002/humu.20014
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- Article
High quality copy number and genotype data from FFPE samples using Molecular Inversion Probe (MIP) microarrays.
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- BMC Medical Genomics, 2009, v. 2, p. 1, doi. 10.1186/1755-8794-2-8
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- Article
N-(4-Hydroxyphenyl)retinamide and nitric oxide pro-drugs exhibit apoptotic and anti-invasive effects against bone metastatic breast cancer cells.
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- Carcinogenesis, 2006, v. 27, n. 3, p. 568, doi. 10.1093/carcin/bgi233
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- Article
Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.
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- Human Molecular Genetics, 2023, v. 32, n. 4, p. 621, doi. 10.1093/hmg/ddac231
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- Article
Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.
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- Human Molecular Genetics, 2022, v. 31, n. 2, p. 262, doi. 10.1093/hmg/ddab243
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- Article
Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.
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- Human Molecular Genetics, 2020, v. 29, n. 15, p. 2496, doi. 10.1093/hmg/ddaa123
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- Article
Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.
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- Muscle & Nerve, 2010, v. 42, n. 6, p. 856, doi. 10.1002/mus.21789
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- Article
Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-216
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- Article