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T‐cell prolymphocytic leukemia is associated with deregulation of oncogenic microRNAs on transcriptional and epigenetic level.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 7, p. 432, doi. 10.1002/gcc.23034
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- Publication type:
- Article
Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 8, p. 586, doi. 10.1002/gcc.22954
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- Publication type:
- Article
Reconstruction of rearranged T‐cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T‐cell prolymphocytic leukemia.
- Published in:
- Genes, Chromosomes & Cancer, 2020, v. 59, n. 4, p. 261, doi. 10.1002/gcc.22821
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- Publication type:
- Article
Non‐leukemic pediatric mixed phenotype acute leukemia/lymphoma: Genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma.
- Published in:
- Genes, Chromosomes & Cancer, 2019, v. 58, n. 6, p. 365, doi. 10.1002/gcc.22726
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- Publication type:
- Article
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 5, p. 223, doi. 10.1002/gcc.22523
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- Publication type:
- Article
Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).
- Published in:
- Genes, Chromosomes & Cancer, 2016, v. 55, n. 9, p. 677, doi. 10.1002/gcc.22369
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- Publication type:
- Article
High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 2, p. 150, doi. 10.1002/gcc.22014
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- Publication type:
- Article
Rhabdoid tumors in patients conceived following ART: is there an association?
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- Human Reproduction, 2023, v. 38, n. 10, p. 2028, doi. 10.1093/humrep/dead154
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- Publication type:
- Article
The master-code of DNA: epigenetic mechanisms and their role for the development of diseases.
- Published in:
- 2013
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- Publication type:
- Journal Article
Der Über-Code der DNA: epigenetische Mechanismen und deren Bedeutung für die Entstehung von Krankheiten.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2013, v. 37, n. 6, p. 317, doi. 10.1515/labmed-2013-0048
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- Publication type:
- Article
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.
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- European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.27
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- Publication type:
- Article
Frequency and characterization of DNA methylation defects in children born SGA.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 838, doi. 10.1038/ejhg.2012.262
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- Publication type:
- Article
SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome.
- Published in:
- Medizinische Genetik, 2017, v. 29, n. 3, p. 296, doi. 10.1007/s11825-017-0160-4
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- Publication type:
- Article
Chromosom 14-assoziierte Imprintingsyndrome - Temple- und Kagami-Ogata-Syndrome.
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- Medizinische Genetik, 2015, v. 27, n. 2, p. 247, doi. 10.1007/s11825-015-0050-6
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- Publication type:
- Article
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics.
- Published in:
- Acta Neuropathologica, 2023, v. 146, n. 3, p. 527, doi. 10.1007/s00401-023-02608-7
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- Publication type:
- Article
ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 6, p. 697, doi. 10.1007/s00401-022-02424-5
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- Publication type:
- Article
Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 2, p. 361, doi. 10.1007/s00401-021-02328-w
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- Publication type:
- Article
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
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- Acta Neuropathologica, 2020, v. 139, n. 2, p. 277, doi. 10.1007/s00401-019-02094-w
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- Publication type:
- Article
Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1.
- Published in:
- 2019
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- Publication type:
- Case Study
Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.
- Published in:
- 2016
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- Publication type:
- Letter
Mantle cell lymphomas with concomitant MYC and CCND1 breakpoints are recurrently TdT positive and frequently show high-grade pathological and genetic features.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2021, v. 479, n. 1, p. 133, doi. 10.1007/s00428-021-03022-8
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- Publication type:
- Article
The DNA methylation status of the TERT promoter differs between subtypes of mature B-cell lymphomas.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00872-0
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- Publication type:
- Article
The DNA methylation status of the TERT promoter differs between subtypes of mature B-cell lymphomas.
- Published in:
- 2023
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- Publication type:
- Letter
Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases.
- Published in:
- Blood Cancer Journal, 2019, v. 9, n. 12, p. 1, doi. 10.1038/s41408-019-0252-2
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- Publication type:
- Article
Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 2, p. 100, doi. 10.1159/000336344
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- Publication type:
- Article
Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.
- Published in:
- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0410-y
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- Publication type:
- Article
Development of super-specific epigenome editing by targeted allele-specific DNA methylation.
- Published in:
- Epigenetics & Chromatin, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13072-023-00515-5
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- Publication type:
- Article
Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073288
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- Publication type:
- Article
DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039014
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- Publication type:
- Article
Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort.
- Published in:
- Pediatric Blood & Cancer, 2020, v. 67, n. 1, p. N.PAG, doi. 10.1002/pbc.28022
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- Publication type:
- Article
Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort.
- Published in:
- 2019
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- Publication type:
- journal article
The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort.
- Published in:
- 2018
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- Publication type:
- journal article
Molecular characterization of acute lymphoblastic leukemia with high CRLF2 gene expression in childhood.
- Published in:
- Pediatric Blood & Cancer, 2017, v. 64, n. 10, p. n/a, doi. 10.1002/pbc.26539
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- Publication type:
- Article
Molecular characterization of acute lymphoblastic leukemia with high CRLF2 gene expression in childhood.
- Published in:
- 2017
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- Publication type:
- journal article
Atypical teratoid/rhabdoid tumor arising in a malignant glioma.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1301, doi. 10.1210/jc.2009-1176
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- Publication type:
- Article
Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus.
- Published in:
- Molecular & Cellular Pediatrics, 2016, v. 3, n. 1, p. 1, doi. 10.1186/s40348-016-0061-7
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- Publication type:
- Article
Low‐grade diffusely infiltrative tumour (LGDIT), SMARCB1‐mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT‐MYC.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 4, p. 1, doi. 10.1111/nan.12797
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- Publication type:
- Article
Clinical phenotypes of MAGEL2 mutations and deletions.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 40, doi. 10.1186/1750-1172-9-40
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- Publication type:
- Article
Clinical phenotypes of MAGEL2 mutations and deletions.
- Published in:
- 2014
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- Publication type:
- case study
Targeting oncogenic TERT promoter variants by allele-specific epigenome editing.
- Published in:
- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01599-2
- By:
- Publication type:
- Article
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novodel(21)(q22) characterised by molecular karyotyping: Case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
- Published in:
- Brain Pathology, 2017, v. 27, n. 4, p. 411, doi. 10.1111/bpa.12413
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- Publication type:
- Article
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0173-2
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- Publication type:
- Article
Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population.
- Published in:
- Cancers, 2022, v. 14, n. 9, p. N.PAG, doi. 10.3390/cancers14092185
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- Publication type:
- Article
CDKN2A -Mutated Pancreatic Ductal Organoids from Induced Pluripotent Stem Cells to Model a Cancer Predisposition Syndrome.
- Published in:
- Cancers, 2021, v. 13, n. 20, p. 5139, doi. 10.3390/cancers13205139
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- Publication type:
- Article
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
- Published in:
- Journal of Molecular Medicine, 2014, v. 92, n. 7, p. 769, doi. 10.1007/s00109-014-1141-6
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- Publication type:
- Article
Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2941, doi. 10.1002/ajmg.a.35618
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- Publication type:
- Article
MYC expression and translocation analyses in low-grade and transformed follicular lymphoma.
- Published in:
- Histopathology, 2017, v. 71, n. 6, p. 960, doi. 10.1111/his.13316
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- Publication type:
- Article
Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors.
- Published in:
- Neuro-Oncology, 2020, v. 22, n. 7, p. 1006, doi. 10.1093/neuonc/noz244
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- Publication type:
- Article