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Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 3, p. 182, doi. 10.1038/jhg.2009.142
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- Article
Proportion of Heritable Paraganglioma Cases and Associated Clinical Characteristics.
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- Laryngoscope, 2001, v. 111, n. 10, p. 1822, doi. 10.1097/00005537-200110000-00029
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- Article
Genetic Analysis in the Diagnosis of Familial Paragangliomas.
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- Laryngoscope, 2000, v. 110, n. 7, p. 1225, doi. 10.1097/00005537-200007000-00030
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- Article
The double-domain cytidine deaminase APOBEC3G is a cellular site-specific RNA editing enzyme.
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- Scientific Reports, 2016, p. 39100, doi. 10.1038/srep39100
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- Article
Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 8, p. 2938, doi. 10.1210/jc.2007-0797
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- Article
A Phenotypic Perspective on Mammalian Oxygen Sensor Candidates.
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- Annals of the New York Academy of Sciences, 2006, v. 1073, n. 1, p. 221, doi. 10.1196/annals.1353.024
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- Article
Phenotypic dichotomy in mitochondrial complex II genetic disorders.
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- Journal of Molecular Medicine, 2001, v. 79, n. 9, p. 495, doi. 10.1007/s001090100267
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- Article
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 228, doi. 10.1007/s00439-003-0969-6
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- Article
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation.
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- Human Genetics, 2001, v. 109, n. 2, p. 216, doi. 10.1007/s004390100564
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- Article
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.
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- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200585
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- Article
RNA editing enzyme APOBEC3A promotes pro-inflammatory M1 macrophage polarization.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-020-01620-x
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- Article
APOBEC3A cytidine deaminase induces RNA editing in monocytes and macrophages.
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- Nature Communications, 2015, v. 6, n. 4, p. 6881, doi. 10.1038/ncomms7881
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- Article
Etiopathogenesis and clinical presentation of carotid body tumors.
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- Microscopy Research & Technique, 2002, v. 59, n. 3, p. 256, doi. 10.1002/jemt.10200
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- Article
Mitochondrial complex II regulates a distinct oxygen sensing mechanism in monocytes.
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- Human Molecular Genetics, 2017, v. 26, n. 7, p. 1328, doi. 10.1093/hmg/ddx041
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- Article
Genomic imprinting at a boundary element flanking the SDHD locus.
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- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4452, doi. 10.1093/hmg/ddr376
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- Publication type:
- Article
Loss of distal 11q is associated with DNA repair deficiency and reduced sensitivity to ionizing radiation in head and neck squamous cell carcinoma.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 8, p. 761, doi. 10.1002/gcc.20462
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- Article
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.
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- Genes, Chromosomes & Cancer, 2001, v. 31, n. 3, p. 255, doi. 10.1002/gcc.1142
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- Article
Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene.
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- Genes, Chromosomes & Cancer, 2001, v. 31, n. 3, p. 274, doi. 10.1002/gcc.1144
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- Article
Stem-loop structure preference for site-specific RNA editing by APOBEC3A and APOBEC3G.
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- PeerJ, 2017, p. 1, doi. 10.7717/peerj.4136
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- Article
The implications of APOBEC3-mediated C-to-U RNA editing for human disease.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06239-w
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- Article
Mitochondrial hypoxic stress induces widespread RNA editing by APOBEC3G in natural killer cells.
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- Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1651-1
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- Article
Ofatumumab plus HyperCVAD/HD‐MA induction leads to high rates of minimal residual disease negativity in patients with newly diagnosed mantle cell lymphoma: Results of a phase 2 study.
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- Cancer (0008543X), 2022, v. 128, n. 8, p. 1595, doi. 10.1002/cncr.34106
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- Article
Miniseminar: contemporary management of paragangliomas
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- 2003
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- Abstract
Coordinate up-regulation of TMEM97 and cholesterol biosynthesisgenes in normal ovarian surface epithelial cells treated withprogesterone: implications for pathogenesis of ovarian cancer.
- Published in:
- BMC Cancer, 2007, v. 7, p. 223, doi. 10.1186/1471-2407-7-223
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- Publication type:
- Article