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P1‐146: WHOLE EXOME SEQUENCING IN PATIENTS WITH EARLY‐ONSET ALZHEIMER'S DISEASE AND FRONTOTEMPORAL DEMENTIA: MUTATION DETECTION IN CAUSAL AND RISK GENES FOR DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P332, doi. 10.1016/j.jalz.2018.06.149
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- Publication type:
- Article
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2475
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- Publication type:
- Article
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2030, doi. 10.1002/ajmg.a.36007
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- Article
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 211, doi. 10.1038/ng.313
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- Publication type:
- Article
Genome assembly comparison identifies structural variants in the human genome.
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- Nature Genetics, 2006, v. 38, n. 12, p. 1413, doi. 10.1038/ng1921
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- Publication type:
- Article
Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0113223
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- Publication type:
- Article
Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism.
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- PLoS ONE, 2009, v. 4, n. 12, p. e8269, doi. 10.1371/journal.pone.0008269
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- Article
Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups.
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- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007230
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- Publication type:
- Article
Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects.
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- Amino Acids, 2012, v. 43, n. 2, p. 897, doi. 10.1007/s00726-011-1149-y
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- Publication type:
- Article
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
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- Human Genetics, 2012, v. 131, n. 3, p. 513, doi. 10.1007/s00439-011-1095-5
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- Publication type:
- Article
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.
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- Human Genetics, 2006, v. 120, n. 2, p. 270, doi. 10.1007/s00439-006-0217-y
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- Publication type:
- Article
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 185, doi. 10.1007/s00439-005-0130-9
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- Publication type:
- Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
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- Publication type:
- Article
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 528, doi. 10.1038/ejhg.2013.175
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- Article
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.
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- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 26, doi. 10.1038/sj.ejhg.5200760
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- Article
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02809-z
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- Publication type:
- Article
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-12
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- Article
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.
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- BMC Bioinformatics, 2011, v. 12, n. 1, p. 166, doi. 10.1186/1471-2105-12-166
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- Article
MLPAstats: An R GUI package for the integrated analysis of copy number alterations using MLPA data.
- Published in:
- 2011
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- Publication type:
- Product Review
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).
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- BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-261
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- Publication type:
- Article
CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries.
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- Annals of Human Genetics, 2010, v. 74, n. 5, p. 463, doi. 10.1111/j.1469-1809.2010.00591.x
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- Publication type:
- Article
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 4, p. 1, doi. 10.1007/s00018-023-04705-y
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- Publication type:
- Article
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 808, doi. 10.1002/acn3.51050
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- Article
Origin of Primate Orphan Genes: A Comparative Genomics Approach.
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- Molecular Biology & Evolution, 2009, v. 26, n. 3, p. 603
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- Article
Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
- Published in:
- 2021
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- Publication type:
- Correction Notice
MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80954-2
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- Publication type:
- Article
SNPassoc: an R package to perform whole genome association studies.
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- Bioinformatics, 2007, v. 23, n. 5, p. 654, doi. 10.1093/bioinformatics/btm025
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- Publication type:
- Article
GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
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- Nucleic Acids Research, 2022, v. 50, n. 5, p. 2464, doi. 10.1093/nar/gkac076
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- Publication type:
- Article
Hepatic accumulation of S-adenosylmethionine in hamsters with non-alcoholic fatty liver disease associated with metabolic syndrome under selenium and vitamin E deficiency.
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- Clinical Science, 2019, v. 133, n. 3, p. 409, doi. 10.1042/CS20171039
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- Publication type:
- Article
Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies.
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- PLoS Genetics, 2007, v. 3, n. 10, p. e190, doi. 10.1371/journal.pgen.0030190
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- Publication type:
- Article
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
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- Human Mutation, 2016, v. 37, n. 6, p. 516, doi. 10.1002/humu.22989
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- Article
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
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- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2572, doi. 10.1093/hmg/ddm209
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- Publication type:
- Article
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2201, doi. 10.1093/hmg/ddg223
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- Article
Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
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- Human Molecular Genetics, 2003, v. 12, n. 8, p. 849, doi. 10.1093/hmg/ddg101
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- Publication type:
- Article
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability—An Exception or a Necessity?
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- Genes, 2024, v. 15, n. 6, p. 789, doi. 10.3390/genes15060789
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- Article
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.
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- Behavior Genetics, 2018, v. 48, n. 4, p. 323, doi. 10.1007/s10519-018-9902-6
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- Publication type:
- Article
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13699, doi. 10.3390/ijms241813699
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- Article
Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.
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- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-261
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- Article
Maximizing association statistics over genetic models.
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- Genetic Epidemiology, 2008, v. 32, n. 3, p. 246, doi. 10.1002/gepi.20299
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- Article
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.
- Published in:
- Behavioral & Brain Functions, 2008, v. 4, p. 1, doi. 10.1186/1744-9081-4-10
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- Publication type:
- Article