Found: 34
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Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources.
- Published in:
- Briefings in Bioinformatics, 2019, v. 20, n. 5, p. 1754, doi. 10.1093/bib/bby047
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- Article
Chemokine expression in the early response to injury in human airway epithelial cells.
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- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193334
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- Article
A p53-regulated apoptotic gene signature predicts treatment response and outcome in pediatric acute lymphoblastic leukemia.
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- Cancer Management & Research, 2017, v. 9, p. 397, doi. 10.2147/CMAR.S139864
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- Article
Lynx: a knowledge base and an analytical workbench for integrative medicine.
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- Nucleic Acids Research, 2016, v. 44, p. D882, doi. 10.1093/nar/gkv1257
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- Article
An Integrative Computational Approach for Prioritization of Genomic Variants.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114903
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- Article
Lynx web services for annotations and systems analysis of multi-gene disorders.
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- Nucleic Acids Research, 2014, v. 42, n. W1, p. W473, doi. 10.1093/nar/gku517
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- Article
Lynx: a database and knowledge extraction engine for integrative medicine.
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- Nucleic Acids Research, 2014, v. 42, n. D1, p. D1007, doi. 10.1093/nar/gkt1166
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- Publication type:
- Article
Rapid Selection Response for Contextual Fear Conditioning in a Cross Between C57BL/6J and A/J: Behavioral, QTL and Gene Expression Analysis.
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- Behavior Genetics, 2008, v. 38, n. 3, p. 277, doi. 10.1007/s10519-008-9203-6
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- Article
Recurrent 16p11.2 microdeletions in autism.
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- Human Molecular Genetics, 2008, v. 17, n. 4, p. 628
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- Article
Selection for contextual fear conditioning affects anxiety-like behaviors and gene expression.
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- Genes, Brain & Behavior, 2007, v. 6, n. 8, p. 736, doi. 10.1111/j.1601-183X.2007.00306.x
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- Article
Genetic architecture of fear conditioning in chromosome substitution strains: relationship to measures of innate (unlearned) anxiety-like behavior.
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- Mammalian Genome, 2007, v. 18, n. 4, p. 221, doi. 10.1007/s00335-007-9013-9
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- Article
Gene expression differences in mice divergently selected for methamphetamine sensitivity.
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- Mammalian Genome, 2005, v. 16, n. 5, p. 291, doi. 10.1007/s00335-004-2451-8
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- Article
Screen for expanded FMR1 alleles in patients with essential tremor.
- Published in:
- Movement Disorders, 2004, v. 19, n. 8, p. 930, doi. 10.1002/mds.20043
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- Article
Innovation: Digital genotyping using molecular affinity and mass spectrometry.
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- Nature Reviews Genetics, 2003, v. 4, n. 12, p. 1001, doi. 10.1038/nrg1230
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- Article
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
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- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2733, doi. 10.1093/hmg/ddg314
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- Article
Association between lipoprotein lipase (LPL) gene and blood lipids: A common variant for a common trait?
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- Genetic Epidemiology, 2003, v. 24, n. 4, p. 309, doi. 10.1002/gepi.10229
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- Article
Optimal Step Length EM Algorithm (OSLEM) for the estimation of haplotype frequency and its application in lipoprotein lipase genotyping.
- Published in:
- BMC Bioinformatics, 2003, v. 4, p. 3, doi. 10.1186/1471-2105-4-3
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- Article
EB Simplex Superficialis Resulting from a Mutation in the Type VII Collagen Gene.
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- Journal of Investigative Dermatology, 2002, v. 118, n. 3, p. 547, doi. 10.1046/j.0022-202x.2001.01702.x
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- Article
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.
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- Nature Genetics, 2002, v. 30, n. 3, p. 335, doi. 10.1038/ng832
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- Article
Four New Families with Autosomal Dominant Partial Epilepsy with Auditory Features: Clinical Description and Linkage to Chromosome 10q24.
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- Epilepsia (Series 4), 2002, v. 43, n. 1, p. 60, doi. 10.1046/j.1528-1157.2002.45001.x
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- Article
Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.
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- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 381, doi. 10.1038/sj.ejhg.5200440
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- Article
Further analysis of the mechanism of copper trafficking pathways using yeast expression arrays.
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- 1999
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- Publication type:
- Abstract
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 233, doi. 10.1038/13868
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- Publication type:
- Article
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
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- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1665, doi. 10.1093/hmg/8.9.1665
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- Article
Differential SMN2 expression associated with SMA severity.
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- Nature Genetics, 1998, v. 20, n. 3, p. 230, doi. 10.1038/3030
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- Article
Arm tremor secondary to Wilson's disease.
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- Movement Disorders, 1998, v. 13, n. 2, p. 351, doi. 10.1002/mds.870130227
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- Article
Heterologous Expression of the Metal-Binding Domains of Human Copper-Transporting ATPases (P<sub>1</sub>-ATPases)<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1997, v. 834, n. 1, p. 155, doi. 10.1111/j.1749-6632.1997.tb52246.x
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- Article
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.
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- Annals of Neurology, 1997, v. 42, n. 1, p. 41, doi. 10.1002/ana.410420109
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- Article
A Multicopy Transcription-Repair Gene, BTF2p44, Maps to the SMA Region and Demonstrates SMA Associated Deletions.
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- Human Molecular Genetics, 1997, v. 6, n. 2, p. 229, doi. 10.1093/hmg/6.2.229
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- Article
Characterization of Survival Motor Neuron (SMNT) Gene Deletions in Asymptomatic Carriers of Spinal Muscular Atrophy.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 359, doi. 10.1093/hmg/5.3.359
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- Article
Dinucleotide repeat polymorphism at the D19S206 locus.
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- Human Molecular Genetics, 1992, v. 1, n. 6, p. 454
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- Article
Dinucleotide repeat polymorphism at the D4S251 locus.
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- Human Molecular Genetics, 1992, v. 1, n. 5, p. 349
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- Article
Genetic mapping of 'Lubag' (X-linked dystonia-parkinsonism) in a filipino kindred to the pericentromeric region of the X chromosome.
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- Annals of Neurology, 1991, v. 29, n. 2, p. 124, doi. 10.1002/ana.410290203
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- Article
Report of a Workshop on Genetic Linkage Studies in Schizophrenia.
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- Schizophrenia Bulletin, 1990, v. 16, n. 4, p. 673, doi. 10.1093/schbul/16.4.673
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- Article