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Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome.von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.A common origin of the 4143insA ADAMTS13 mutation.Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series.Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007.High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant.Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report.A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.Intracranial hemorrhage in a term newborn with severe von Willebrand disease type 3 associated with sinus venous thrombosis.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.Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup.Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells.Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes.Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.Platelet-free shear flow assay facilitates analysis of shear-dependent functions of VWF and ADAMTS13.Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor.Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion.Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosisNonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) ExpressionCharacterisation of mutations and molecular studies of type 2 von Willebrand diseaseGermline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysisIMMU-28. DECIPHERING THE AT/RT LIGANDOME.Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerizationAnalysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipientsAdministration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patientsClinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)
P50
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P50
name
Florian Oyen
@en
Florian Oyen
@nl
type
label
Florian Oyen
@en
Florian Oyen
@nl
prefLabel
Florian Oyen
@en
Florian Oyen
@nl