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Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 1934, doi. 10.3390/ijms21061934
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- Publication type:
- Article
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 1042, doi. 10.3390/ijms21031042
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- Publication type:
- Article
Simplified four-step retropharyngeal approach for the upper cervical spine: technical note.
- Published in:
- European Spine Journal, 2020, v. 29, n. 11, p. 2752, doi. 10.1007/s00586-020-06521-5
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- Publication type:
- Article
Cohesin mutations are synthetic lethal with stimulation of WNT signaling.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.61405
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- Publication type:
- Article
Genome stability: What we have learned from cohesinopathies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 171, doi. 10.1002/ajmg.c.31492
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- Publication type:
- Article
Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2019, v. 38, n. 1, p. N.PAG, doi. 10.1186/s13046-019-1116-0
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- Publication type:
- Article
Cornelia de Lange syndrome and cancer: An open question.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 292, doi. 10.1002/ajmg.a.62992
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- Publication type:
- Article
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1690, doi. 10.1002/ajmg.a.61611
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- Publication type:
- Article
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1080, doi. 10.1002/ajmg.a.61108
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- Publication type:
- Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
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- Publication type:
- Article
The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1865, doi. 10.1002/ajmg.a.35415
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- Publication type:
- Article
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 224, doi. 10.1002/ajmg.a.34384
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- Publication type:
- Article
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 528, doi. 10.1038/ng1779
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- Publication type:
- Article
Type II odontoid fracture in elderly patients treated conservatively: is fracture healing the goal?
- Published in:
- 2019
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- Publication type:
- journal article
SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.
- Published in:
- Scientific Reports, 2015, p. 18472, doi. 10.1038/srep18472
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- Publication type:
- Article
Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.
- Published in:
- Scientific Reports, 2015, p. 16803, doi. 10.1038/srep16803
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- Publication type:
- Article
Clinical utility gene card for: Cornelia de Lange syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.270
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- Publication type:
- Article
Transpars approach for L5-S1 foraminal and extra-foraminal lumbar disc herniations: technical note.
- Published in:
- Journal of Neurosurgical Sciences, 2023, v. 67, n. 2, p. 213, doi. 10.23736/S0390-5616.20.05165-6
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- Publication type:
- Article
Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 5, p. 885, doi. 10.1038/mt.2015.27
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- Publication type:
- Article
Aphidicolin-sensitive specific common fragile sites: A biomarker of exposure to pesticides.
- Published in:
- Environmental & Molecular Mutagenesis, 1997, v. 29, n. 3, p. 250, doi. 10.1002/(SICI)1098-2280(1997)29:3<250::AID-EM4>3.0.CO;2-G
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- Publication type:
- Article
A role for Separase in telomere protection.
- Published in:
- Nature Communications, 2016, v. 7, n. 1, p. 10405, doi. 10.1038/ncomms10405
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- Publication type:
- Article
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 10, p. 1599, doi. 10.1093/hmg/ddab348
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- Publication type:
- Article
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 17, p. 3002, doi. 10.1093/hmg/ddy203
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- Publication type:
- Article
Mutant cohesin drives chromosomal instability in early colorectal adenomas.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6773, doi. 10.1093/hmg/ddu394
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- Publication type:
- Article
Mutant cohesin drives chromosomal instability in early colorectal adenomas.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu394
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- Publication type:
- Article
p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 11, p. 1, doi. 10.1038/s41419-019-2076-1
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- Publication type:
- Article
Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix.
- Published in:
- 2012
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- Publication type:
- journal article
Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix.
- Published in:
- Journal of Translational Medicine, 2012, v. 10, n. 1, p. 132, doi. 10.1186/1479-5876-10-132
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- Publication type:
- Article
Claspin inhibition leads to fragile site expression.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 12, p. 1083, doi. 10.1002/gcc.20710
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- Publication type:
- Article
Calcified Epidural Hematoma after Conservative Treatment of Acute Epidural Hematoma in the Pediatric Population: A Systematic Review.
- Published in:
- 2022
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- Publication type:
- Case Study
Synthetic Lethality between Cohesin and WNT Signaling Pathways in Diverse Cancer Contexts.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 7, p. 608, doi. 10.3390/cells13070608
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- Publication type:
- Article
Reciprocal Regulation of TRPS1 and miR-221 in Intervertebral Disc Cells.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 10, p. 1170, doi. 10.3390/cells8101170
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- Publication type:
- Article
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.993064
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- Publication type:
- Article
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2024, v. 43, n. 1, p. 1, doi. 10.1186/s13046-024-02976-2
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- Publication type:
- Article
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2024, v. 43, n. 1, p. 1, doi. 10.1186/s13046-024-02976-2
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- Publication type:
- Article
AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005167
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- Publication type:
- Article
Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1589, doi. 10.1002/humu.22430
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- Publication type:
- Article
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 623, doi. 10.1002/humu.21252
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- Publication type:
- Article
Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease.
- Published in:
- 2010
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- Publication type:
- Other
A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4180, doi. 10.1093/hmg/ddp370
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- Publication type:
- Article
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 3, p. 418, doi. 10.1093/hmg/ddn369
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- Publication type:
- Article
SMC1 involvement in fragile site expression.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 4, p. 525, doi. 10.1093/hmg/ddi049
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- Publication type:
- Article
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2085, doi. 10.3390/genes14112085
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- Publication type:
- Article
The multifaceted roles of cohesin in cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2022, v. 41, n. 1, p. 1, doi. 10.1186/s13046-022-02321-5
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- Publication type:
- Article
Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence.
- Published in:
- Aging Cell, 2013, v. 12, n. 2, p. 312, doi. 10.1111/acel.12034
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- Publication type:
- Article
Damaging-agent sensitivity of Artemis-deficient cell lines.
- Published in:
- European Journal of Immunology, 2005, v. 35, n. 4, p. 1250, doi. 10.1002/eji.200425555
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- Publication type:
- Article