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Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome.Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case reportDNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples.Androgen receptor function links human sexual dimorphism to DNA methylationIn vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans.A novel large deletion of the ICR1 region including H19 and putative enhancer elementsIsolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.Frequency and characterization of DNA methylation defects in children born SGA.Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas.Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus.Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery.Molecular characterization of acute lymphoblastic leukemia with high CRLF2 gene expression in childhood.Mechanisms of intracerebral lymphoma growth delineated in a syngeneic mouse model of central nervous system lymphoma.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.MYC expression and translocation analyses in low-grade and transformed Follicular Lymphoma.Clinical phenotypes of MAGEL2 mutations and deletions.Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-relatedCongenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas.AT-10ATYPICAL TERATOID RHABDOID TUMORS AND POORLY DIFFERENTIATED CHORDOMAS: DISTINCT MOLECULAR ENTITIES WITH SMARCB1/INI1 LOSS AND DISMAL PROGNOSIS.AT-11CRIBRIFORM NEUROEPITHELIAL TUMOR (CRINET): MOLECULAR CHARACTERIZATION OF A SMARCB1-DEFICIENT NON-RHABDOID TUMOR WITH FAVORABLE LONG-TERM OUTCOME.LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.Cortisol, the cortisol-dehydroepiandrosterone ratio, and pro-inflammatory cytokines in patients with current major depressive disorder comorbid with borderline personality disorder.Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup.Atypical teratoid/rhabdoid tumor arising in a malignant glioma.Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes.The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort.NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease.Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.Angiogenic factors in patients with current major depressive disorder comorbid with borderline personality disorder.
P50
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P50
description
onderzoeker
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name
Susanne Bens
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Susanne Bens
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Susanne Bens
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Susanne Bens
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type
label
Susanne Bens
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Susanne Bens
@en
Susanne Bens
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Susanne Bens
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prefLabel
Susanne Bens
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Susanne Bens
@en
Susanne Bens
@es
Susanne Bens
@sl