Found: 26
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Cholecystokinin-2 receptor mediated gene expression in neuronal PC12 cells.
- Published in:
- Journal of Neurochemistry, 2008, v. 104, n. 6, p. 1450, doi. 10.1111/j.1471-4159.2007.05076.x
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- Publication type:
- Article
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8627, doi. 10.3390/ijms22168627
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- Publication type:
- Article
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 300, doi. 10.1038/ejhg.2010.203
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- Publication type:
- Article
Cyclic AMP-Induced Neuronal Differentiation via Activation of p38 Mitogen-Activated Protein Kinase.
- Published in:
- Journal of Neurochemistry, 2000, v. 75, n. 5, p. 1870, doi. 10.1046/j.1471-4159.2000.0751870.x
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- Publication type:
- Article
MicroRNA dysregulation in adenoid cystic carcinoma of the salivary gland in relation to prognosis and gene fusion status: a cohort study.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2018, v. 473, n. 3, p. 329, doi. 10.1007/s00428-018-2423-0
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- Publication type:
- Article
MicroRNA dysregulation in adenoid cystic carcinoma of the salivary gland in relation to prognosis and gene fusion status: a cohort study.
- Published in:
- 2018
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- Publication type:
- journal article
Association of the leucine-7 to proline-7 variation in the signal sequence of neuropeptide Y with major depression.
- Published in:
- Acta Neuropsychiatrica, 2012, v. 24, n. 2, p. 81, doi. 10.1111/j.1601-5215.2011.00600.x
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- Publication type:
- Article
Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 876, doi. 10.1002/ccr3.944
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- Publication type:
- Article
Molecular subtyping of breast cancer improves identification of both high and low risk patients.
- Published in:
- Acta Oncologica, 2018, v. 57, n. 1, p. 58, doi. 10.1080/0284186X.2017.1398416
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- Publication type:
- Article
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.
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- Acta Oncologica, 2008, v. 47, n. 4, p. 772, doi. 10.1080/02841860802004974
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- Publication type:
- Article
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
- Published in:
- Breast Cancer Research, 2024, v. 26, n. 1, p. 1, doi. 10.1186/s13058-023-01755-9
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- Publication type:
- Article
Classifications within Molecular Subtypes Enables Identification of <i>BRCA1/BRCA2</i> Mutation Carriers by RNA Tumor Profiling
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064268
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- Publication type:
- Article
RNA-binding IMPs promote cell adhesion and invadopodia formation.
- Published in:
- EMBO Journal, 2006, v. 25, n. 7, p. 1456, doi. 10.1038/sj.emboj.7601039
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- Publication type:
- Article
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-103
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- Publication type:
- Article
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 54, doi. 10.1186/1471-2350-13-54
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- Publication type:
- Article
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.
- Published in:
- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-58
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- Publication type:
- Article
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009231
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- Publication type:
- Article
Adeno-associated viral vector-induced overexpression of neuropeptide Y Y2 receptors in the hippocampus suppresses seizures.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 9, p. 2778, doi. 10.1093/brain/awq219
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- Publication type:
- Article
High-density SNP arrays improve detection of HER2 amplification and polyploidy in breast tumors.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1035-1
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- Publication type:
- Article
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1921, doi. 10.1002/humu.24449
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- Publication type:
- Article
Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388
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- Publication type:
- Article
A guide for functional analysis of BRCA1 variants of uncertain significance.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1526, doi. 10.1002/humu.22150
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- Publication type:
- Article
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2256, doi. 10.1093/hmg/ddw094
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- Publication type:
- Article
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.
- Published in:
- Hereditary Cancer in Clinical Practice, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s13053-020-00140-3
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- Publication type:
- Article
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
- Published in:
- Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0053-6
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- Publication type:
- Article
Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122662
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- Publication type:
- Article