Found: 31
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New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
- Published in:
- Human Genetics, 2004, v. 114, n. 5, p. 458, doi. 10.1007/s00439-004-1089-7
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- Publication type:
- Article
NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.
- Published in:
- 1992
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- Publication type:
- journal article
A distinct group of CpG islands shows differential DNA methylation between replicas of the same cell line in vitro.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-692
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- Publication type:
- Article
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).
- Published in:
- Neurogenetics, 2011, v. 12, n. 4, p. 337, doi. 10.1007/s10048-011-0298-1
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- Publication type:
- Article
Whole transcriptome targeted gene quantification provides new insights on pulmonary sarcomatoid carcinomas.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40016-8
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- Publication type:
- Article
Polymorphism at the 5' end flanking region of the insulin gene is associated with reduced insulin secretion in healthy individuals.
- Published in:
- European Journal of Clinical Investigation, 1988, v. 18, n. 6, p. 582, doi. 10.1111/j.1365-2362.1988.tb01271.x
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- Publication type:
- Article
ampliMethProfiler: a pipeline for the analysis of CpG methylation profiles of targeted deep bisulfite sequenced amplicons.
- Published in:
- BMC Bioinformatics, 2016, v. 17, p. 1, doi. 10.1186/s12859-016-1380-3
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- Publication type:
- Article
Evidence for Evolutionary and Nonevolutionary Forces Shaping the Distribution of Human Genetic Variants near Transcription Start Sites.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114432
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- Publication type:
- Article
Signs of Selective Pressure on Genetic Variants Affecting Human Height.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027588
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- Publication type:
- Article
CpG Islands Undermethylation in Human Genomic Regions under Selective Pressure.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023156
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- Publication type:
- Article
PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich’s Ataxia.
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- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010025
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- Publication type:
- Article
Mutations in Insulin-Receptor Gene.
- Published in:
- Diabetes Care, 1992, v. 15, n. 4, p. 591
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- Publication type:
- Article
DNA polymorphism of the insulin gene, diabetes, and severe obesity.
- Published in:
- 1988
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- Publication type:
- journal article
The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes.
- Published in:
- Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0448-6
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- Publication type:
- Article
PPAR-γ Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich’s Ataxia Therapy.
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- Cerebellum, 2009, v. 8, n. 2, p. 98, doi. 10.1007/s12311-008-0087-z
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- Publication type:
- Article
Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression.
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- Cerebellum, 2008, v. 7, n. 3, p. 360, doi. 10.1007/s12311-008-0036-x
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- Publication type:
- Article
Coronary Heart Disease, Echo-Doppler Evidence of Peripheral Arterial Disease and Polymorphism of Apolipoprotein B Gene and Apo AI/CIII Cluster.
- Published in:
- Angiology, 1993, v. 44, n. 10, p. 785, doi. 10.1177/000331979304401004
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- Publication type:
- Article
DNA Methylation variability among individuals is related to CpGs cluster density and evolutionary signatures.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4618-9
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- Publication type:
- Article
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 85, doi. 10.1186/1471-2350-7-85
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- Publication type:
- Article
Functional properties of normal and inverted rat thyroid follicles in suspension culture.
- Published in:
- Journal of Cellular Physiology, 1986, v. 126, n. 1, p. 93, doi. 10.1002/jcp.1041260113
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- Publication type:
- Article
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 19, p. 5962, doi. 10.1093/nar/gkh933
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- Publication type:
- Article
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with Creactive protein in type 2 diabetic patients.
- Published in:
- Cardiovascular Diabetology, 2010, v. 9, p. 68, doi. 10.1186/1475-2840-9-68
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- Publication type:
- Article
CpG islands under selective pressure are enriched with H3K4me3, H3K27ac and H3K36me3 histone modifications.
- Published in:
- BMC Evolutionary Biology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2148-13-145
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- Publication type:
- Article
Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation.
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- BMC Evolutionary Biology, 2010, v. 10, p. 351, doi. 10.1186/1471-2148-10-351
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- Publication type:
- Article
Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 1, p. 55, doi. 10.1002/ana.21052
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- Publication type:
- Article
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2989, doi. 10.1093/hmg/11.23.2989
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- Publication type:
- Article
Parental Gender, Age at Birth and Expansion Length Influence GAA Repeat Intergenerational Instability in the X25 Gene: Pedigree Studies and Analysis of Sperm from Patients with Friedreich's Ataxia.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 12, p. 1901, doi. 10.1093/hmg/7.12.1901
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- Publication type:
- Article
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 12, p. 1901, doi. 10.1093/hmg/7.12.1901
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- Publication type:
- Article
The Friedreich Ataxia GAA Triplet Repeat: Premutation and Normal Alleles.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 8, p. 1261, doi. 10.1093/hmg/6.8.1261
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- Publication type:
- Article
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients.
- Published in:
- 2007
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- Publication type:
- journal article
Pro 1 2Ala Polymorphism of the PPARγ2 Locus Modulates the Relationship Between Energy Intake and Body Weight in Type 2 Diabetic Patients.
- Published in:
- Diabetes Care, 2007, v. 30, n. 5, p. 1156, doi. 10.2337/dc06-1153
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- Publication type:
- Article