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ASSESSMENT OF THE ROLE OF COPY-NUMBER VARIANTS IN 150 PATIENTS WITH CONGENITAL HEART DEFECTS.
- Published in:
- Developmental Period Medicine, 2012, v. 16, n. 3, p. 175
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- Publication type:
- Article
Functionalization of CD36 Cardiovascular Disease and Expression Associated Variants by Interdisciplinary High Throughput Analysis.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008287
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- Publication type:
- Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
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- Publication type:
- Article
Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 4, p. 2188, doi. 10.1093/nar/gku1394
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- Publication type:
- Article
An essential role for Gα<sub>i2</sub> in Smoothened-stimulated epithelial cell proliferation in the mammary gland.
- Published in:
- Science Signaling, 2015, v. 8, n. 394, p. 1, doi. 10.1126/scisignal.aaa7355
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- Publication type:
- Article
Application of Array Comparative Genomic Hybridization in 102 Patients With Epilepsy and Additional Neurodevelopmental Disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 7, p. 760, doi. 10.1002/ajmg.b.32081
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- Publication type:
- Article
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01113-y
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- Publication type:
- Article
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2487, doi. 10.1002/ajmg.a.36084
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- Publication type:
- Article
Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c.
- Published in:
- Nature Medicine, 2013, v. 19, n. 12, p. 1609, doi. 10.1038/nm.3385
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- Publication type:
- Article
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease
- Published in:
- 2012
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- Publication type:
- Abstract
Olfactory receptor cluster copy number is associated with age at onset of Alzheimer's disease
- Published in:
- 2009
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- Publication type:
- Abstract
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 2, p. 206, doi. 10.1038/ng.1066
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- Publication type:
- Article
Sustained endocrine profiles of a girl with WAGR syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2016, v. 9, n. 5, p. 553, doi. 10.1002/aur.1559
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- Publication type:
- Article
MicroRNA Expression Differences in Human Hematopoietic Cell Lineages Enable Regulated Transgene Expression.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102259
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- Publication type:
- Article
Gene Sequence Variability of the Three Surface Proteins of Human Respiratory Syncytial Virus (HRSV) in Texas.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090786
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- Publication type:
- Article
Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development.
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0015392
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- Publication type:
- Article
Novel MicroRNA Candidates and miRNA-mRNA Pairs in Embryonic Stem (ES) Cells.
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- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002548
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- Publication type:
- Article
Early Patterns of Gene Expression Correlate With the Humoral Immune Response to Influenza Vaccination in Humans.
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- Journal of Infectious Diseases, 2011, v. 203, n. 7, p. 921, doi. 10.1093/infdis/jiq156
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- Publication type:
- Article
Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
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- EMBO Reports, 2023, v. 24, n. 10, p. 1, doi. 10.15252/embr.202255043
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- Publication type:
- Article
Evidence for involvement of TRE-2 ( USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7
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- Publication type:
- Article
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 1
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- Publication type:
- Article
Publisher Correction: EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07168-z
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- Publication type:
- Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
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- Publication type:
- Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
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- Publication type:
- Article
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 620, doi. 10.1038/ejhg.2012.219
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- Publication type:
- Article
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155
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- Publication type:
- Article
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.
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- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859
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- Publication type:
- Article
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201302
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- Publication type:
- Article
Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
- Published in:
- Epilepsia Open, 2018, v. 3, n. 1, p. 81, doi. 10.1002/epi4.12085
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- Publication type:
- Article
Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis.
- Published in:
- Breast Cancer Research, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13058-014-0508-5
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- Publication type:
- Article
Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis.
- Published in:
- 2015
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- Publication type:
- journal article
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-19
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- Publication type:
- Article
Genome-wide association study of platelet aggregation in African Americans.
- Published in:
- BMC Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12863-015-0217-9
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- Publication type:
- Article
EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15773
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- Publication type:
- Article
CELF1 is a central node in post-transcriptional regulatory programmes underlying EMT.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13362, doi. 10.1038/ncomms13362
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- Publication type:
- Article
De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
- Published in:
- Annals of Human Genetics, 2016, v. 80, n. 4, p. 235, doi. 10.1111/ahg.12157
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- Publication type:
- Article
Human endogenous retroviral elements promote genome instability via nonallelic homologous recombination.
- Published in:
- BMC Biology, 2014, v. 12, n. 1, p. 1, doi. 10.1186/s12915-014-0074-4
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- Publication type:
- Article
Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections – A Prospective Cohort Study.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.ppat.1004869
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- Publication type:
- Article
A joint modeling approach for longitudinal microbiome data improves ability to detect microbiome associations with disease.
- Published in:
- PLoS Computational Biology, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pcbi.1008473
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- Publication type:
- Article
Bayesian modelling of high-throughput sequencing assays with malacoda.
- Published in:
- PLoS Computational Biology, 2020, v. 16, n. 7, p. 1, doi. 10.1371/journal.pcbi.1007504
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- Publication type:
- Article
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4061, doi. 10.1093/hmg/ddv146
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- Publication type:
- Article
CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5906, doi. 10.1093/hmg/ddu314
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- Publication type:
- Article
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4360, doi. 10.1093/hmg/ddr363
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- Publication type:
- Article
Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders.
- Published in:
- Science Translational Medicine, 2011, v. 3, n. 86, p. 1, doi. 10.1126/scitranslmed.3002166
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- Publication type:
- Article
Aging Hematopoietic Stem Cells Decline in Function and Exhibit Epigenetic Dysregulation.
- Published in:
- PLoS Biology, 2007, v. 5, n. 8, p. 1750, doi. 10.1371/journal.pbio.0050201
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- Publication type:
- Article
Molecular Signatures of Proliferation and Quiescence in Hematopoietic Stem Cells.
- Published in:
- PLoS Biology, 2004, v. 2, n. 10, p. 1640, doi. 10.1371/journal.pbio.0020301
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- Publication type:
- Article
Molecular Signatures of Proliferation and Quiescence in Hematopoietic Stem Cells.
- Published in:
- PLoS Biology, 2004, v. 2, n. 9, p. 1, doi. 10.1371/journal.pbio.0020301
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- Publication type:
- Article
Brachy–syndactyly caused by loss of Sfrp2 function.
- Published in:
- Journal of Cellular Physiology, 2008, v. 217, n. 1, p. 127, doi. 10.1002/jcp.21483
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- Publication type:
- Article
Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia.
- Published in:
- American Journal of Hematology, 2008, v. 83, n. 7, p. 540, doi. 10.1002/ajh.21145
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- Publication type:
- Article