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A Cell-Autonomous Oncosuppressive Role of Human RNASET2 Affecting ECM-Mediated Oncogenic Signaling.
- Published in:
- Cancers, 2019, v. 11, n. 2, p. 255, doi. 10.3390/cancers11020255
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- Article
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00575-w
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- Publication type:
- Article
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-019-0466-9
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- Publication type:
- Article
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.
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- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180467
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- Publication type:
- Article
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.896749
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- Article
gDNA qPCR is statistically more reliable than mRNA analysis in detecting leukemic cells to monitor CML.
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- Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-018-0387-2
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- Article
Expression of Otx Genes in Müller Cells Using an In Vitro Experimental Model of Retinal Hypoxia.
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- Journal of Ophthalmology, 2021, v. 2021, p. 1, doi. 10.1155/2021/6265553
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- Article
Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.
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- European Journal of Haematology, 2012, v. 89, n. 4, p. 345, doi. 10.1111/j.1600-0609.2012.01833.x
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- Publication type:
- Article
The Potential Role of the T2 Ribonucleases in TME-Based Cancer Therapy.
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- Biomedicines, 2023, v. 11, n. 8, p. 2160, doi. 10.3390/biomedicines11082160
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- Article
Soybean Meal-Dependent Intestinal Inflammation Induces Different Patterns of Bone-Loss in Adult Zebrafish Scale.
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- Biomedicines, 2021, v. 9, n. 4, p. 393, doi. 10.3390/biomedicines9040393
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- Article
Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1194788
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- Publication type:
- Article
Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1194788
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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.
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- Genes, 2023, v. 14, n. 11, p. 2085, doi. 10.3390/genes14112085
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- Article
Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization.
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- Genes, 2023, v. 14, n. 7, p. 1351, doi. 10.3390/genes14071351
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- Publication type:
- Article
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations.
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- British Journal of Haematology, 2019, v. 185, n. 3, p. 627, doi. 10.1111/bjh.15594
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- Publication type:
- Article
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
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- British Journal of Haematology, 2019, v. 184, n. 6, p. 974, doi. 10.1111/bjh.15729
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- Article
Absence of acquired copy number neutral loss of heterozygosity ( CN- LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
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- British Journal of Haematology, 2014, v. 165, n. 4, p. 573, doi. 10.1111/bjh.12767
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- Article
Deletion of chromosome 20 in bone marrow of patients with Shwachman- Diamond syndrome, loss of the EIF6 gene and benign prognosis.
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- British Journal of Haematology, 2012, v. 157, n. 4, p. 503, doi. 10.1111/j.1365-2141.2012.09033.x
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- Article
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome.
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- 2010
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- Publication type:
- Letter
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
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- 2017
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- Publication type:
- journal article
Comparative genomic hybridization on microarray (a- CGH) in olfactory neuroblastoma: Analysis of ten cases and review of the literature.
- Published in:
- Genes, Chromosomes & Cancer, 2015, v. 54, n. 12, p. 771, doi. 10.1002/gcc.22288
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- Publication type:
- Article
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
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- Genes, Chromosomes & Cancer, 2006, v. 45, n. 4, p. 375, doi. 10.1002/gcc.20301
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- Publication type:
- Article
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.
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- Genes, Chromosomes & Cancer, 2004, v. 40, n. 3, p. 165, doi. 10.1002/gcc.20030
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- Publication type:
- Article
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
- Published in:
- 2012
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- Publication type:
- journal article
A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient.
- Published in:
- Calcified Tissue International, 2012, v. 91, n. 4, p. 250, doi. 10.1007/s00223-012-9631-4
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- Publication type:
- Article
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
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- Genes, Chromosomes & Cancer, 2017, v. 56, n. 1, p. 51, doi. 10.1002/gcc.22401
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- Publication type:
- Article
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 39, doi. 10.1186/1755-8166-5-39
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- Publication type:
- Article
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.
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- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-56
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- Article
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells.
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- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 13, doi. 10.1186/1755-8166-4-13
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- Article
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.
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- 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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- Article
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.
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- 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
Soy diet induces intestinal inflammation in adult Zebrafish: Role of OTX and P53 family.
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- International Journal of Experimental Pathology, 2022, v. 103, n. 1, p. 13, doi. 10.1111/iep.12420
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- Article
Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 1934, doi. 10.3390/ijms21061934
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- Article
Homeoprotein OTX1 and OTX2 involvement in rat myenteric neuron adaptation after DNBS-induced colitis.
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- PeerJ, 2020, p. 1, doi. 10.7717/peerj.8442
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- Publication type:
- Article
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.
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- British Journal of Haematology, 2009, v. 145, n. 2, p. 190, doi. 10.1111/j.1365-2141.2009.07611.x
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- Article
OTX Genes in Adult Tissues.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 16962, doi. 10.3390/ijms242316962
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- Publication type:
- Article
Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4024, doi. 10.3390/ijms24044024
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- Article
Human RNASET2: A Highly Pleiotropic and Evolutionary Conserved Tumor Suppressor Gene Involved in the Control of Ovarian Cancer Pathogenesis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9074, doi. 10.3390/ijms23169074
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- Article
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13331, doi. 10.3390/ijms222413331
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- Publication type:
- Article