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Human genetics in health care.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S170, doi. 10.1007/PL00014397
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- Publication type:
- Article
Exon skipping for DMD.
- Published in:
- 2012
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- Publication type:
- Abstract
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
- Published in:
- 2016
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- Publication type:
- journal article
Familial Resemblance for Serum Metabolite Concentrations.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 5, p. 948, doi. 10.1017/thg.2013.59
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- Publication type:
- Article
Familial Resemblance for Serum Metabolite Concentrations — Corrigendum.
- Published in:
- 2013
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- Publication type:
- Correction Notice
Genome-wide assessment of differential roles for p300 and CBP in transcription regulation.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 16, p. 5396, doi. 10.1093/nar/gkq184
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- Publication type:
- Article
Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 16, p. e165, doi. 10.1093/nar/gkq602
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- Publication type:
- Article
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 21, p. e141, doi. 10.1093/nar/gkn705
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- Publication type:
- Article
The Human Genome Project and the Role of Genetics in Health Care.
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- Clinical Chemistry & Laboratory Medicine, 1998, v. 36, n. 8, p. 515
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- Publication type:
- Article
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
- Published in:
- Nature Biotechnology, 2013, v. 31, n. 11, p. 1015, doi. 10.1038/nbt.2702
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- Publication type:
- Article
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 379, doi. 10.1038/ng.2217
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- Publication type:
- Article
Frequency of new copy number variation in humans.
- Published in:
- 2005
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- Publication type:
- Letter
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
- Published in:
- Nature Genetics, 2003, v. 35, n. 4, p. 315, doi. 10.1038/ng1262
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 235, doi. 10.1038/ng999
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- Publication type:
- Article
Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers.
- Published in:
- Nature Genetics, 2002, v. 31, n. 3, p. 295, doi. 10.1038/ng903
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- Publication type:
- Article
New insights in gene-derived therapy: the example of Duchenne muscular dystrophy.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 199, doi. 10.1111/j.1749-6632.2010.05836.x
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- Publication type:
- Article
Development of Antisense-Mediated Exon Skipping as a Treatment for Duchenne Muscular Dystrophy.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1175, n. 1, p. 71, doi. 10.1111/j.1749-6632.2009.04973.x
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- Publication type:
- Article
A Novel and Fast Normalization Method for High-Density Arrays.
- Published in:
- Statistical Applications in Genetics & Molecular Biology, 2012, v. 11, n. 4, p. -1, doi. 10.1515/1544-6115.1753
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- Publication type:
- Article
Two-colour immunocytochemical staining of gamma (gamma) and epsilon (epsilon) type haemoglobin in fetal red cells.
- Published in:
- 1998
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- Publication type:
- journal article
Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 10, p. 1082, doi. 10.1002/(SICI)1097-0223(1998100)18:10<1082::AID-PD383>3.0.CO;2-D
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- Publication type:
- Article
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.
- Published in:
- Scientific Reports, 2017, p. 44849, doi. 10.1038/srep44849
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- Publication type:
- Article
Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients.
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- Skeletal Muscle, 2011, v. 1, n. 1, p. 2, doi. 10.1186/2044-5040-1-15
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- Publication type:
- Article
Transcriptional Profiling of Human Familial Longevity Indicates a Role for ASF1A and IL7R.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0027759
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- Publication type:
- Article
Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024308
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- Publication type:
- Article
Human Papillomavirus Deregulates the Response of a Cellular Network Comprising of Chemotactic and Proinflammatory Genes.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017848
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- Publication type:
- Article
Serum protein profiling in mice: Identification of Factor XIIIa as a potential biomarker for muscular dystrophy.
- Published in:
- Proteomics, 2008, v. 8, n. 8, p. 1552, doi. 10.1002/pmic.200700857
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- Publication type:
- Article
ADVANCES IN DUCHENNE MUSCULAR DYSTROPHY GENE THERAPY.
- Published in:
- Nature Reviews Genetics, 2003, v. 4, n. 10, p. 774, doi. 10.1038/nrg1180
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- Publication type:
- Article
BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 893, doi. 10.1038/ejhg.2014.235
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- Publication type:
- Article
Progress in therapeutic antisense applications for neuromuscular disorders.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 146, doi. 10.1038/ejhg.2009.160
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- Publication type:
- Article
Reply to Nothnagel et al.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Popper revisited: GWAS here, last year.
- Published in:
- 2008
- By:
- Publication type:
- Editorial
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 180, doi. 10.1038/sj.ejhg.5201540
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- Publication type:
- Article
Genomics: The human genome, revisited.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 265, doi. 10.1038/sj.ejhg.5201348
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- Publication type:
- Article
Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 845, doi. 10.1038/sj.ejhg.5201053
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- Publication type:
- Article
New initiatives from EJHG, ESHG and Nature Publishing Group.
- Published in:
- 2002
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- Publication type:
- Editorial
EDITORIAL.
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- 2002
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- Publication type:
- Editorial
Medical genomics.
- Published in:
- 2001
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- Publication type:
- Editorial
2000: promises and plans.
- Published in:
- 2000
- By:
- Publication type:
- Editorial
Gene expression variation between mouse inbred strains.
- Published in:
- BMC Genomics, 2004, v. 5, p. 57, doi. 10.1186/1471-2164-5-57
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- Publication type:
- Article
Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease.
- Published in:
- BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-291
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- Publication type:
- Article
Intensity‐based analysis of two‐colour microarrays enables efficient and flexible hybridization designs.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 4, p. e41
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- Publication type:
- Article
Scanning for Genes in Large Genomic Regions: Cosmid-Based Exon Trapping of Multiple Exons in a Single Product.
- Published in:
- Nucleic Acids Research, 1996, v. 24, n. 6, p. 1105, doi. 10.1093/nar/24.6.1105
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- Publication type:
- Article
Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy.
- Published in:
- BMC Medical Genomics, 2011, v. 4, n. 1, p. 36, doi. 10.1186/1755-8794-4-36
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- Publication type:
- Article
Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice.
- Published in:
- FASEB Journal, 2013, v. 27, n. 6, p. 2484, doi. 10.1096/fj.12-224170
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- Publication type:
- Article
IL7R gene expression network associates with human healthy ageing.
- Published in:
- Immunity & Ageing, 2015, p. 1, doi. 10.1186/s12979-015-0048-6
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- Publication type:
- Article
Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy.
- Published in:
- PLoS Computational Biology, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pcbi.1002258
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- Publication type:
- Article
Dystrophin expression in the developing conduction system of the human heart.
- Published in:
- Microscopy Research & Technique, 1995, v. 30, n. 6, p. 458, doi. 10.1002/jemt.1070300603
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- Publication type:
- Article
Human Papillomavirus (HPV) Upregulates the Cellular Deubiquitinase UCHL1 to Suppress the Keratinocyte's Innate Immune Response
- Published in:
- PLoS Pathogens, 2013, v. 9, n. 5, p. 1, doi. 10.1371/journal.ppat.1003384
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- Publication type:
- Article
The Implicitome: A Resource for Rationalizing Gene-Disease Associations.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149621
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- Publication type:
- Article
Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 36, n. 3, p. 273, doi. 10.1002/gcc.10169
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- Publication type:
- Article