Found: 25
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Genomic instability in fragile sites—still adding the pieces.
- Published in:
- Genes, Chromosomes & Cancer, 2019, v. 58, n. 5, p. 295, doi. 10.1002/gcc.22715
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- Article
Infection with retroviral vectors leads to perturbed DNA replication increasing vector integrations into fragile sites.
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- Scientific Reports, 2013, p. 1, doi. 10.1038/srep02189
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- Article
Interplay between genetic and epigenetic factors governs common fragile site instability in cancer.
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- Cellular & Molecular Life Sciences, 2014, v. 71, n. 23, p. 4495, doi. 10.1007/s00018-014-1719-8
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- Article
The presence of extra chromosomes leads to genomic instability.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10754, doi. 10.1038/ncomms10754
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- Article
Oncogenes create a unique landscape of fragile sites.
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- Nature Communications, 2015, v. 6, n. 5, p. 7094, doi. 10.1038/ncomms8094
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- Article
Oncogene-Induced Replication Stress Drives Genome Instability and Tumorigenesis.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1339, doi. 10.3390/ijms18071339
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- Article
Familial concordance of phenotype and microbial variation among siblings with CF.
- Published in:
- Pediatric Pulmonology, 2004, v. 38, n. 4, p. 292, doi. 10.1002/ppul.20111
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- Publication type:
- Article
Folate levels modulate oncogene-induced replication stress and tumorigenicity.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 9, p. 1138, doi. 10.15252/emmm.201404824
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- Article
The unfolded protein response affects readthrough of premature termination codons.
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- EMBO Molecular Medicine, 2014, v. 6, n. 5, p. 685, doi. 10.1002/emmm.201303347
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- Publication type:
- Article
The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells.
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- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1156, doi. 10.1038/sj.ejhg.5201889
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- Article
Screening of CFTR mutations in an isolated population: identification of carriers and patients.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 181, doi. 10.1038/sj.ejhg.5200174
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- Article
<i>LRRC6</i> Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059436
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- Article
Impaired Replication Stress Response in Cells from Immunodeficiency Patients Carrying Cernunnos/XLF Mutations.
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- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004516
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- Publication type:
- Article
Genotype-phenotype correlations in cystic fibrosis.
- Published in:
- Pediatric Pulmonology, 1996, v. 22, n. 6, p. 387, doi. 10.1002/(SICI)1099-0496(199612)22:6<387::AID-PPUL7>3.0.CO;2-G
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- Publication type:
- Article
Insights into common fragile site instability: DNA replication challenges at DNA repeat sequences.
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- Emerging Topics in Life Sciences, 2023, v. 7, n. 3, p. 277, doi. 10.1042/ETLS20230023
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- Article
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.
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- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 683, doi. 10.1172/JCI28523
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- Publication type:
- Article
AT-dinucleotide rich sequences drive fragile site formation.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 18, p. 9685, doi. 10.1093/nar/gkz689
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- Article
Automatic Detection of Combed DNA.
- Published in:
- 2010
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- Publication type:
- Abstract
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome.
- Published in:
- Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z
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- Publication type:
- Article
3D genome organization contributes to genome instability at fragile sites.
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- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17448-2
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- Publication type:
- Article
Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.
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- EMBO Reports, 2004, v. 5, n. 11, p. 1071, doi. 10.1038/sj.embor.7400273
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- Article
Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.
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- 2005
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- Publication type:
- journal article
Clinical, Genetic, and Electrophysiologic Characteristics of a New Pas-Domain HERG Mutation (M124R) Causing Long QT Syndrome.
- Published in:
- Annals of Noninvasive Electrocardiology, 2005, v. 10, n. 3, p. 334, doi. 10.1111/j.1542-474X.2005.00643.x
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- Article
Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations.
- Published in:
- 2002
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- Publication type:
- journal article
Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 657
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- Publication type:
- Article