Works matching DE "BLOOM syndrome"
Results: 62
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein.
- Published in:
- BioEssays, 2017, v. 39, n. 9, p. n/a, doi. 10.1002/bies.201700073
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- Article
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome.
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- Case Reports in Surgery, 2016, p. 1, doi. 10.1155/2016/3176842
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- Article
Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression.
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- Oncogene, 2015, v. 34, n. 14, p. 1780, doi. 10.1038/onc.2014.121
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- Article
miR-522-3p Promotes Tumorigenesis in Human Colorectal Cancer via Targeting Bloom Syndrome Protein.
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- Oncology Research, 2018, v. 26, n. 7, p. 1113, doi. 10.3727/096504018X15166199939341
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- Article
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.
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- Journal of the European Academy of Dermatology & Venereology, 2014, v. 28, n. 10, p. 1318, doi. 10.1111/jdv.12279
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- Article
Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge.
- Published in:
- 2019
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- Publication type:
- Case Study
Beginning at the end: DNA replication within the telomere.
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- Journal of Cell Biology, 2015, v. 210, n. 2, p. 177, doi. 10.1083/jcb.201506078
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- Article
BLM helicase facilitates telomere replication during leading strand synthesis of telomeres.
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- Journal of Cell Biology, 2015, v. 210, n. 2, p. 191, doi. 10.1083/jcb.201410061
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- Article
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
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- Scientific Reports, 2015, p. 14060, doi. 10.1038/srep14060
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- Article
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?
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- Turkish Journal of Pediatrics, 2014, v. 56, n. 3, p. 327, doi. 10.24953/turkjped.2014.1376
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- Article
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes.
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- BMC Molecular Biology, 2012, v. 13, n. 1, p. 33, doi. 10.1186/1471-2199-13-33
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- Article
23andMe: a new two-sided data-banking market model.
- Published in:
- 2016
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- Publication type:
- journal article
Investigating Adolescent Discourse in Critical Thinking: Monologic Responses to Stories Containing a Moral Dilemma.
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- Language, Speech & Hearing Services in Schools, 2021, v. 52, n. 2, p. 630, doi. 10.1044/2020_LSHSS-20-00134
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- Publication type:
- Article
Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
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- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a005751
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- Article
Sources and Structures of Mitotic Crossovers That Arise When BLM Helicase Is Absent in Drosophila.
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- Genetics, 2014, v. 196, n. 1, p. 107, doi. 10.1534/genetics.113.158618
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- Article
Resection Activity of the Sgs1 Helicase Alters the Affinity of DNA Ends for Homologous Recombination Proteins in Saccharomyces cerevisiae.
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- Genetics, 2013, v. 195, n. 4, p. 1241, doi. 10.1534/genetics.113.157370
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- Article
A Young Diabetic Case with Bloom Syndrome.
- Published in:
- 2015
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- Abstract
A Young Diabetic Case with Bloom Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 42
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- Article
Purification and enzymatic characterization of Gallus gallus BLM helicase.
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- Journal of Biochemistry, 2017, v. 162, n. 3, p. 183, doi. 10.1093/jb/mvx013
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- Article
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0236-4
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- Article
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
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- Molecular Biology Reports, 2014, v. 41, n. 11, p. 7373, doi. 10.1007/s11033-014-3624-5
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- Article
On BLM helicase in recombination-mediated telomere maintenance.
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- Molecular Biology Reports, 2013, v. 40, n. 4, p. 3049, doi. 10.1007/s11033-012-2379-0
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- Article
Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer.
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- 2017
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- Publication type:
- journal article
Regulation of BLM Nucleolar Localization.
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- Genes, 2016, v. 7, n. 9, p. 69, doi. 10.3390/genes7090069
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- Article
MRN complex-dependent recruitment of ubiquitylated BLM helicase to DSBs negatively regulates DNA repair pathways.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03393-8
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- Publication type:
- Article
BLM Deficiency Is Not Associated with Sensitivity to Hydroxyurea-Induced Replication Stress.
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- Journal of Nucleic Acids, 2010, p. 1, doi. 10.4061/2010/319754
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- Publication type:
- Article
Characterization of the <i>Caenorhabditis elegans</i> HIM-6/BLM Helicase: Unwinding Recombination Intermediates.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102402
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- Publication type:
- Article
Bloom's Syndrome and PICH Helicases Cooperate with Topoisomerase IIα in Centromere Disjunction before Anaphase.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0033905
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- Publication type:
- Article
The Werner Syndrome Protein Is Distinguished from the Bloom Syndrome Protein by Its Capacity to Tightly Bind Diverse DNA Structures.
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- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030189
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- Article
A PiggyBac-Based Recessive Screening Method to Identify Pluripotency Regulators.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018189
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- Article
FDA approves 23andMe gene carrier test.
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- Nature Biotechnology, 2015, v. 33, n. 5, p. 435, doi. 10.1038/nbt0515-435a
- Publication type:
- Article
Functions of RecQ Family Helicases: Possible Involvement of Bloom's and Werner's Syndrome Gene Products in Guarding Genome Integrity during DNA Replication.
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- Journal of Biochemistry, 2001, v. 129, n. 4, p. 501, doi. 10.1093/oxfordjournals.jbchem.a002883
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- Article
Bloom Syndrome with Extensive Pulmonary Involvement in a Child.
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- Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152593
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- Publication type:
- Article
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.
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- PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006483
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- Publication type:
- Article
Designing small universal k-mer hitting sets for improved analysis of high-throughput sequencing.
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- PLoS Computational Biology, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pcbi.1005777
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- Article
Keeping ribosomal DNA intact: a repeating challenge.
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- Chromosome Research, 2019, v. 27, n. 1/2, p. 57, doi. 10.1007/s10577-018-9594-z
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- Article
What is your diagnosis?
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- Turkderm - Turkish Archives of Dermatology & Venereology, 2020, v. 54, n. 3, p. 122, doi. 10.4274/turkderm.galenos.2019.76736
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- Article
Drosophila FANCM Helicase Prevents Spontaneous Mitotic Crossovers Generated by the MUS81 and SLX1 Nucleases.
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- Genetics, 2014, v. 198, n. 3, p. 935, doi. 10.1534/genetics.114.168096
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- Article
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.
- Published in:
- 2013
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- Publication type:
- Case Study
Regulatory controls for direct-to-consumer genetic tests: a case study on how the FDA exercised its authority.
- Published in:
- New Genetics & Society, 2017, v. 36, n. 3, p. 209, doi. 10.1080/14636778.2017.1354690
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- Publication type:
- Article
Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM.
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- Cytogenetic & Genome Research, 2015, v. 144, n. 4, p. 255, doi. 10.1159/000375247
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- Article
key points.
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- Practitioner, 2017, v. 261, n. 1800, p. 26
- Publication type:
- Article
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
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- Human Genetics, 2013, v. 132, n. 7, p. 825, doi. 10.1007/s00439-013-1296-1
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- Publication type:
- Article
THE PROCESS OF ENHANCING A GERIATRIC MODULE IN UNDERGRADUATE PHYSIOTHERAPY EDUCATION IN SOUTH AFRICA - PERCEIVED ATTITUDES TOWARDS AGEING AMONG COMMUNITY-DWELLING ELDERLY PERSONS IN CAPE TOWN.
- Published in:
- 2014
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- Publication type:
- Journal Article
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 106, doi. 10.1002/mgg3.188
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- Publication type:
- Article
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 363, doi. 10.1002/mgg3.148
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- Publication type:
- Article
DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.
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- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/8193892
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- Publication type:
- Article
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings.
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- International Journal of Dermatology, 2016, v. 55, n. 6, p. 687, doi. 10.1111/ijd.13009
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- Publication type:
- Article
Bloom syndrome.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 7, p. 798, doi. 10.1111/ijd.12408
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- Publication type:
- Article
Bloom syndrome: report of two cases in siblings.
- Published in:
- International Journal of Dermatology, 2013, v. 52, n. 8, p. 990, doi. 10.1111/j.1365-4632.2011.05385.x
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- Publication type:
- Article