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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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Role of gain of 12p in germ cell tumour development.
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- APMIS, 2003, v. 111, n. 1, p. 161, doi. 10.1034/j.1600-0463.2003.11101201.x
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Germ cell tumours in neonates and infants: a distinct subgroup?
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- APMIS, 2003, v. 111, n. 1, p. 152, doi. 10.1034/j.1600-0463.2003.1110119_1.x
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Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 721, doi. 10.1007/s10038-006-0010-8
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Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts.
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- International Journal of Cancer, 1996, v. 65, n. 4, p. 460, doi. 10.1002/(SICI)1097-0215(19960208)65:4<460::AID-IJC12>3.0.CO;2-E
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Isolation and characterization of glioblastoma-associated homozygously deleted DNA fragments from chromosomal region 9p21 suggests involvement of multiple tumour suppressor genes.
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- Journal of Pathology, 1999, v. 189, n. 3, p. 402, doi. 10.1002/(SICI)1096-9896(199911)189:3<402::AID-PATH437>3.0.CO;2-8
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Fluorescence in situ hybridization analysis of chromosome 12 anomalies in semen cells from patients with carcinoma in situ of the testis.
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- Journal of Pathology, 1998, v. 186, n. 3, p. 235, doi. 10.1002/(SICI)1096-9896(1998110)186:3<235::AID-PATH177>3.0.CO;2-U
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Interphase cytogenetic analysis of distinct X-chromosomal translocation breakpoints in synovial sarcoma.
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- Journal of Pathology, 1995, v. 175, n. 4, p. 391, doi. 10.1002/path.1711750405
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
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- Nature Genetics, 2015, v. 47, n. 6, p. 668, doi. 10.1038/ng.3287
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- 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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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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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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- Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
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- Nature Genetics, 2004, v. 36, n. 9, p. 955, doi. 10.1038/ng1407
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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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The Mitotic Arrest Deficient Protein MAD2B Interacts with the Clathrin Light Chain A during Mitosis.
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- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0015128
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The Mitotic Arrest Deficient Protein MAD2B Interacts with the Small GTPase RAN throughout the Cell Cycle.
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- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007020
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Genomic organization and chromosomal localization of three members of the UDP‐N‐acetylgalactosamine: polypeptide N‐acetylgalactosaminyltransferase family.
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- Glycobiology, 1998, v. 8, n. 6, p. 547, doi. 10.1093/glycob/8.6.547
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
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- Human Genetics, 2010, v. 128, n. 3, p. 281, doi. 10.1007/s00439-010-0848-x
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Renal Cell Cancer: Chromosome 3 Translocations as Risk Factors.
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- JNCI: Journal of the National Cancer Institute, 1999, v. 91, n. 13, p. 1159, doi. 10.1093/jnci/91.13.1159
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Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications.
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- Oncogene, 2005, v. 24, n. 10, p. 1794, doi. 10.1038/sj.onc.1208383
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12p-Amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.
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- Oncogene, 2003, v. 22, n. 48, p. 7695, doi. 10.1038/sj.onc.1207011
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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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Homozygosity mapping in outbred families with mental retardation.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167
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Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
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Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes.
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- Oncogene, 2001, v. 20, n. 12, p. 1414, doi. 10.1038/sj.onc.1204213
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Nuclear localization and transactivating capacities of the papillary renal cell carcinoma-associated TFE3 and PRCC (fusion) proteins.
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- Oncogene, 2000, v. 19, n. 1, p. 69, doi. 10.1038/sj.onc.1203255
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Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults.
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- Oncogene, 1998, v. 16, n. 20, p. 2617, doi. 10.1038/sj.onc.1201787
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Regulation of the MiTF/TFE bHLH‐LZ transcription factors through restricted spatial expression and alternative splicing of functional domains.
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- Nucleic Acids Research, 2004, v. 32, n. 8, p. 2315, doi. 10.1093/nar/gkh571
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Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development.
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- Histopathology, 2011, v. 58, n. 6, p. 934, doi. 10.1111/j.1365-2559.2011.03795.x
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Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients.
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- International Journal of Cancer, 2011, v. 129, n. 7, p. 1635, doi. 10.1002/ijc.25821
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Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 3, doi. 10.1186/1755-8166-7-3
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Clonal dynamics in pediatric B‐cell precursor acute lymphoblastic leukemia with very early relapse.
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- Pediatric Blood & Cancer, 2022, v. 69, n. 1, p. 1, doi. 10.1002/pbc.29361
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EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients.
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- Familial Cancer, 2013, v. 12, n. 2, p. 169, doi. 10.1007/s10689-012-9591-x
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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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Identification of CUX1 as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma.
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- Genes, Chromosomes & Cancer, 2013, v. 52, n. 1, p. 11, doi. 10.1002/gcc.22001
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High detection rate of clinically relevant genomic abnormalities in plasma cells enriched from patients with multiple myeloma.
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- Genes, Chromosomes & Cancer, 2012, v. 51, n. 11, p. 997, doi. 10.1002/gcc.21982
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Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic leukemia.
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- Genes, Chromosomes & Cancer, 2011, v. 50, n. 12, p. 969, doi. 10.1002/gcc.20919
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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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The (Epi)genetics of human synovial sarcoma.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 2, p. 107, doi. 10.1002/gcc.20399
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Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization.
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- Genes, Chromosomes & Cancer, 2005, v. 43, n. 4, p. 367, doi. 10.1002/gcc.20208
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Identification of androgen-responsive genes that are alternatively regulated in androgen-dependent and androgen-independent rat prostate tumors.
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- Genes, Chromosomes & Cancer, 2005, v. 43, n. 3, p. 273, doi. 10.1002/gcc.20184
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Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines.
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- Genes, Chromosomes & Cancer, 2004, v. 39, n. 3, p. 171, doi. 10.1002/gcc.10311
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Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).
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- Genes, Chromosomes & Cancer, 2003, v. 38, n. 2, p. 107, doi. 10.1002/gcc.10243
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The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP.
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- Genes, Chromosomes & Cancer, 2002, v. 34, n. 3, p. 285, doi. 10.1002/gcc.10073
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Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15).
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- Genes, Chromosomes & Cancer, 2001, v. 31, n. 1, p. 23, doi. 10.1002/gcc.1114
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Molecular mechanisms underlying human synovial sarcoma development.
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- Genes, Chromosomes & Cancer, 2001, v. 30, n. 1, p. 1, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1056>3.0.CO;2-G
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A novel chromosomal region of allelic loss, 4q32-q34, in human osteosarcomas revealed by representational difference analysis.
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- Genes, Chromosomes & Cancer, 1999, v. 26, n. 2, p. 115, doi. 10.1002/(SICI)1098-2264(199910)26:2<115::AID-GCC3>3.0.CO;2-E
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Isolation of osteosarcoma-associated amplified DNA sequences using representational difference analysis.
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- Genes, Chromosomes & Cancer, 1997, v. 20, n. 2, p. 196, doi. 10.1002/(SICI)1098-2264(199710)20:2<196::AID-GCC10>3.0.CO;2-P
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Detection of chromosomal DNA gains and losses in testicular germ cell tumors by comparative genomic hybridization.
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- Genes, Chromosomes & Cancer, 1996, v. 17, n. 2, p. 78, doi. 10.1002/(SICI)1098-2264(199610)17:2<78::AID-GCC2>3.0.CO;2-Y
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