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A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
- Published in:
- Human Genetics, 2006, v. 120, n. 1, p. 77, doi. 10.1007/s00439-006-0185-2
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- Publication type:
- Article
A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 51, doi. 10.3233/JAD-2009-1137
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- Publication type:
- Article
A dystrophic Duchenne mouse model for testing human antisense oligonucleotides.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0193289
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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
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
- Published in:
- 2019
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- Publication type:
- journal article
RNA sequencing: from tag-based profiling to resolving complete transcript structure.
- Published in:
- Cellular & Molecular Life Sciences, 2014, v. 71, n. 18, p. 3537, doi. 10.1007/s00018-014-1637-9
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- Publication type:
- Article
DMD transcript imbalance determines dystrophin levels.
- Published in:
- FASEB Journal, 2013, v. 27, n. 12, p. 4909, doi. 10.1096/fj.13-232025
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- Publication type:
- Article
The genomic landscape of the verrucomicrobial methanotroph Methylacidiphilum fumariolicum SolV.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 914, doi. 10.1186/1471-2164-15-914
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- Publication type:
- Article
Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection.
- Published in:
- BMC Biotechnology, 2009, v. 9, p. 1, doi. 10.1186/1472-6750-9-50
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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
Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (IUPAC Technical Report).
- Published in:
- Pure & Applied Chemistry, 2018, v. 90, n. 7, p. 1199, doi. 10.1515/pac-2017-1008
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- Publication type:
- Article
Mutation (variation) databases and registries: a rationale for coordination of efforts.
- Published in:
- 2011
- By:
- Publication type:
- letter
The Complete Genome Sequence of the Murine Pathobiont Helicobacter typhlonius.
- Published in:
- Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2015.01549
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- Publication type:
- Article
Decay of Sexual Trait Genes in an Asexual Parasitoid Wasp.
- Published in:
- Genome Biology & Evolution, 2016, v. 8, n. 12, p. 3685, doi. 10.1093/gbe/evw273
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- Publication type:
- Article
Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1349, doi. 10.1038/ejhg.2014.281
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- Publication type:
- Article
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
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- Publication type:
- Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
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- Publication type:
- Article
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 540, doi. 10.1038/ejhg.2012.201
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- Publication type:
- Article
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 59, doi. 10.3390/ijms23010059
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- Publication type:
- Article
New methods for next generation sequencingbased microRNA expression profiling.
- Published in:
- BMC Genomics, 2010, v. 11, p. 716, doi. 10.1186/1471-2164-11-716
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- Publication type:
- Article
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey.
- Published in:
- BMC Genomics, 2009, v. 10, p. 479, doi. 10.1186/1471-2164-10-479
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- Publication type:
- Article
Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome.
- Published in:
- BMC Genomics, 2009, v. 10, p. 374, doi. 10.1186/1471-2164-10-374
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- Publication type:
- Article
Can subtle changes in gene expression be consistently detected with different microarray platforms?
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-124
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- Publication type:
- Article
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
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.
- Published in:
- BMC Bioinformatics, 2011, v. 12, p. 1, doi. 10.1186/1471-2105-12-S4-S5
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- Publication type:
- Article
An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1 region implicated in neuroblastoma pathogenesis.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 27, n. 2, p. 143, doi. 10.1002/(SICI)1098-2264(200002)27:2<143::AID-GCC5>3.0.CO;2-E
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- Publication type:
- Article
Balanced translocation in a neuroblastoma patient disrupts a cluster of small nuclear RNA UI and tRNA genes in chromosomal band Ip36.
- Published in:
- Genes, Chromosomes & Cancer, 1995, v. 14, n. 1, p. 35, doi. 10.1002/gcc.2870140107
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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
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
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- Publication type:
- Article
Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1443, doi. 10.3390/genes11121443
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- Publication type:
- Article
Experiences with array-based sequence capture; toward clinical applications.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 50, doi. 10.1038/ejhg.2010.145
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- Publication type:
- Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
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- Publication type:
- Article
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- 2010
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- Publication type:
- Correction notice
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 889, doi. 10.1038/ejhg.2010.4
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- Publication type:
- Article
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
Deletion and duplication screening in the DMD gene using MLPA.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1231, doi. 10.1038/sj.ejhg.5201465
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- Publication type:
- Article
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 6, p. 721, doi. 10.1038/sj.ejhg.5201414
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- Publication type:
- Article
β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 567, doi. 10.1038/sj.ejhg.5201192
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- Publication type:
- Article
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 793, doi. 10.1038/sj.ejhg.5200535
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- Publication type:
- Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
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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
The value of data.
- Published in:
- 2011
- By:
- Publication type:
- Opinion
Recommendations of the 2006 Human Variome Project meeting.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 433, doi. 10.1038/ng2024
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- Publication type:
- Article
Complex SNP-related sequence variation in segmental genome duplications.
- Published in:
- Nature Genetics, 2004, v. 36, n. 8, p. 861, doi. 10.1038/ng1401
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- Publication type:
- Article
DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003594
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- Publication type:
- Article
Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons.
- Published in:
- Molecular Therapy, 2006, v. 14, n. 3, p. 401, doi. 10.1016/j.ymthe.2006.02.022
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- Publication type:
- Article
Targeted Exon Skipping in Transgenic hDMD Mice: A Model for Direct Preclinical Screening of Human-Specific Antisense Oligonucleotides
- Published in:
- Molecular Therapy, 2004, v. 10, n. 2, p. 232, doi. 10.1016/j.ymthe.2004.05.031
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- Publication type:
- Article
Literature-aided interpretation of gene expression data with the weighted global test.
- Published in:
- Briefings in Bioinformatics, 2011, v. 12, n. 5, p. 518, doi. 10.1093/bib/bbq082
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- Publication type:
- Article
The Role of the European Society of Human Genetics in Delivering Genomic Education.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.693952
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- Publication type:
- Article
Nutrigenomics: The Impact of Biomics Technology on Nutrition Research.
- Published in:
- Annals of Nutrition & Metabolism, 2005, v. 49, n. 6, p. 355, doi. 10.1159/000088315
- By:
- Publication type:
- Article