List of works - Florian Oyen

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

scientific article published on 29 March 2010

A common origin of the 4143insA ADAMTS13 mutation

scientific article

AT-10ATYPICAL TERATOID RHABDOID TUMORS AND POORLY DIFFERENTIATED CHORDOMAS: DISTINCT MOLECULAR ENTITIES WITH SMARCB1/INI1 LOSS AND DISMAL PROGNOSIS.

scientific article published on 30 May 2016

AT-11CRIBRIFORM NEUROEPITHELIAL TUMOR (CRINET): MOLECULAR CHARACTERIZATION OF A SMARCB1-DEFICIENT NON-RHABDOID TUMOR WITH FAVORABLE LONG-TERM OUTCOME.

scientific article published on 30 May 2016

Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients

scientific article published on 20 November 2012

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients

scientific article published on 08 January 2008

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

scientific article

Characterisation of mutations and molecular studies of type 2 von Willebrand disease

scientific article published on 22 November 2012

Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion.

scientific article published on 12 December 2013

Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.

scientific article

Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

scientific article published on 21 April 2014

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

scientific article

Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis

scientific article published in December 2009

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

scientific article published on 6 July 2016

Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

scientific article published on 16 November 2019

Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor.

scientific article

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura

scientific article

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.

scientific article published on 19 March 2018

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

scientific article

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome

scientific article

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors

scientific article published on 17 October 2012

IMMU-28. DECIPHERING THE AT/RT LIGANDOME. ⬇️

scientific article published on 22 June 2018

Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells

scientific article published on 21 May 2014

Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007.

scientific article published on 26 May 2016

Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series

scientific article

Intracranial hemorrhage in a term newborn with severe von Willebrand disease type 3 associated with sinus venous thrombosis.

scientific article published in December 2006

Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report

scientific article published on 8 January 2016

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor

scientific article

Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression

Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.

scientific article

Platelet-free shear flow assay facilitates analysis of shear-dependent functions of VWF and ADAMTS13.

scientific article published on 28 August 2014

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.

scientific article published on 11 April 2016

Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

scientific article

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization

scientific article published on 01 July 2004

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition

scientific article published in July 2009

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

article

Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup

scientific article published on 10 January 2018

Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?

scientific article published on 29 June 2016

The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).

scientific article published on 14 August 2015

Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

scientific article published on 03 April 2019

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

scientific article

List of works by Florian Oyen

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

A common origin of the 4143insA ADAMTS13 mutation

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.

Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Characterisation of mutations and molecular studies of type 2 von Willebrand disease

Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion.

Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.

Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor.

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors

IMMU-28. DECIPHERING THE AT/RT LIGANDOME. ⬇️

Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells

Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007.

Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series

Intracranial hemorrhage in a term newborn with severe von Willebrand disease type 3 associated with sinus venous thrombosis.

Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor

Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression

Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.

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.

Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup

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).

Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.