Lista de obras -

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

artículo científico publicado en 2010

A common origin of the 4143insA ADAMTS13 mutation

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2015

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2002

Lista de obras de

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.