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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
- Published in:
- Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
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- Article
TRIM28 variants and Wilms' tumour predisposition.
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- Journal of Pathology, 2021, v. 254, n. 4, p. 494, doi. 10.1002/path.5639
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- Article
TRIM28 variants and Wilms' tumour predisposition.
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- Journal of Pathology, 2021, v. 254, n. 3, p. 494, doi. 10.1002/path.5639
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- Article
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
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- Journal of Pathology, 2018, v. 244, n. 2, p. 135, doi. 10.1002/path.5002
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- Publication type:
- Article
Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 21, p. 10386, doi. 10.1093/nar/gkw859
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- Publication type:
- Article
Minimal residual disease (MRD) detection in acute lymphoblastic leukaemia based on fusion genes and genomic deletions: towards MRD for all.
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- British Journal of Haematology, 2021, v. 194, n. 5, p. 888, doi. 10.1111/bjh.17744
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- Article
DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia.
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- British Journal of Haematology, 2014, v. 166, n. 2, p. 250, doi. 10.1111/bjh.12850
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- Article
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 668, doi. 10.1038/ng.3287
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- Article
A RAG driver on the road to pediatric ALL.
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- Nature Genetics, 2014, v. 46, n. 2, p. 96, doi. 10.1038/ng.2879
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- Publication type:
- Article
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.
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- Nature Genetics, 2010, v. 42, n. 8, p. 665, doi. 10.1038/ng.620
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- Publication type:
- Article
Acquired mutations in TET2 are common in myelodysplastic syndromes.
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- Nature Genetics, 2009, v. 41, n. 7, p. 838, doi. 10.1038/ng.391
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- Article
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1.
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- Nature Genetics, 2009, v. 41, n. 1, p. 112, doi. 10.1038/ng.283
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- Publication type:
- Article
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
- Published in:
- Scientific Reports, 2015, p. 14060, doi. 10.1038/srep14060
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- Publication type:
- Article
Bilateral Renal Tumors in Children: The First 5 Years' Experience of National Centralization in The Netherlands and a Narrative Review of the Literature.
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- Journal of Clinical Medicine, 2021, v. 10, n. 23, p. 5558, doi. 10.3390/jcm10235558
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- Publication type:
- Article
Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome.
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- Cancers, 2021, v. 13, n. 10, p. 2345, doi. 10.3390/cancers13102345
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- Publication type:
- Article
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature.
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- Cancers, 2021, v. 13, n. 5, p. 997, doi. 10.3390/cancers13050997
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- Publication type:
- Article
Glucocorticoid Resistant Pediatric Acute Lymphoblastic Leukemia Samples Display Altered Splicing Profile and Vulnerability to Spliceosome Modulation.
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- Cancers, 2020, v. 12, n. 3, p. 723, doi. 10.3390/cancers12030723
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- Article
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
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- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 870, doi. 10.1038/ejhg.2011.37
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- Publication type:
- Article
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
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- JAMA Network Open, 2023, v. 6, n. 1, p. e2254157, doi. 10.1001/jamanetworkopen.2022.54157
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- Publication type:
- Article
Regulation of the MiTF/TFE bHLH‐LZ transcription factors through restricted spatial expression and alternative splicing of functional domains.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 8, p. 2315, doi. 10.1093/nar/gkh571
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- Publication type:
- Article
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
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- International Journal of Cancer, 2024, v. 154, n. 8, p. 1455, doi. 10.1002/ijc.34832
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- Publication type:
- Article
Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma.
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- Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 2, p. 151, doi. 10.21873/cgp.20175
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- Publication type:
- Article
Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients.
- Published in:
- International Journal of Cancer, 2011, v. 129, n. 7, p. 1635, doi. 10.1002/ijc.25821
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- Publication type:
- Article
Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0136-5
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- Publication type:
- Article
<sup>18</sup>F‐FDG‐PET/CT imaging in diagnostic workup of pediatric precursor B‐cell lymphoblastic lymphoma.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30642
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- Article
High sensitivity and clonal stability of the genomic fusion as single marker for response monitoring in ETV6-RUNX1-positive acute lymphoblastic leukemia.
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- 2019
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- Publication type:
- journal article
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.
- Published in:
- Familial Cancer, 2021, v. 20, n. 4, p. 279, doi. 10.1007/s10689-021-00254-0
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- Publication type:
- Article
Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
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- Genes, Chromosomes & Cancer, 2016, v. 55, n. 11, p. 855, doi. 10.1002/gcc.22385
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- Publication type:
- Article
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
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- Genes, Chromosomes & Cancer, 2010, v. 49, n. 7, p. 635, doi. 10.1002/gcc.20773
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- Publication type:
- Article
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
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- Nucleic Acids Research, 2020, v. 48, n. 2, p. 770, doi. 10.1093/nar/gkz1042
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- Publication type:
- Article
Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year's experience of national centralization.
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- PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0261729
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- Publication type:
- Article
The Origin and Nature of Tightly Clustered BTG1 Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution.
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- PLoS Genetics, 2012, v. 8, n. 2, p. 1, doi. 10.1371/journal.pgen.1002533
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- Publication type:
- Article
IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.
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- 2016
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- Publication type:
- journal article
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446
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- Article
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution.
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- Human Molecular Genetics, 2003, v. 12, n. 14, p. 1661, doi. 10.1093/hmg/ddg178
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- Publication type:
- Article
Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 214, doi. 10.3390/genes12020214
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- Publication type:
- Article
Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience.
- Published in:
- Cancer (0008543X), 2021, v. 127, n. 4, p. 628, doi. 10.1002/cncr.33304
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- Publication type:
- Article
Lynch Syndrome-Associated Extracolonic Tumors Are Rare in Two Extended Families With the Same EPCAM Deletion.
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- American Journal of Gastroenterology (Springer Nature), 2011, v. 106, n. 10, p. 1829, doi. 10.1038/ajg.2011.203
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- Publication type:
- Article
High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas.
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- 2009
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- Publication type:
- journal article
High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas.
- Published in:
- BMC Cancer, 2009, v. 9, p. 1, doi. 10.1186/1471-2407-9-152
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- Publication type:
- Article
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005880
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- Publication type:
- Article