Lista de obras - Reinhard Schneppenheim - Dominio Público Uruguay

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

A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression

artículo científico publicado en 2009

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

artículo científico publicado en 2004

AT-06THE EXTRAORDINARY CHALLENGE OF TREATING PATIENTS WITH CONGENITAL RHABDOID TUMORS - DATA FROM FRANCE, RUSSIA AND THE EU-RHAB REGISTRY.

artículo científico publicado en 2016

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

AT-13THE EU-RHAB EXPERIENCE: CLINICAL, GENETIC AND SURVIVAL DATA DEFINE A STANDARD OF CARE AND ARE THE BASIS FOR CLINICAL TRIALS.

artículo científico publicado en 2016

ATRT-06. CLINICAL AND MOLECULAR RISK FACTORS IN CHILDREN WITH ATYPICAL TERATOID/RHABDOID TUMOUR (AT/RT) - EVIDENCE FROM THE EU-RHAB REGISTRY

ATRT-16. CONGENITAL RHABDOID TUMORS AS A MAJOR CLINICAL CHALLENGE - A COLLABORATIVE EUROPEAN EFFORT

Acquired hemophilia A and von Willebrand syndrome in a patient with late-onset systemic lupus erythematosus

artículo científico publicado en 2014

Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging

artículo científico publicado en 2019

Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT)

artículo científico publicado en 2019

Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations

artículo científico publicado en 2019

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

Atypical teratoid/rhabdoid tumor arising in a malignant glioma

artículo científico publicado en 2016

Bleeding symptoms in patients diagnosed as type 3 Von Willebrand Disease: results from 3WINTERS-IPS, an international and collaborative cross-sectional study

scientific article published on 07 May 2020

Cellular stress induces erythrocyte assembly on intravascular von Willebrand factor strings and promotes microangiopathy

artículo científico publicado en 2018

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

Characterization of VWF gene conversions causing von Willebrand disease

article

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

artículo científico publicado en 2017

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 characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

artículo científico publicado en 2018

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

DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach.

artículo científico publicado en 2005

Denosumab: a potential new and innovative treatment option for aneurysmal bone cysts

artículo científico publicado en 2013

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

Distinct role of von Willebrand factor triplet bands in glycoprotein Ib-dependent platelet adhesion and thrombus formation under flow.

artículo científico publicado en 2013

Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping

artículo científico publicado en 2017

Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease

artículo científico publicado en 2019

Exponential size distribution of von Willebrand factor

artículo científico publicado en 2013

Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).

artículo científico publicado en 2013

Force sensing by the vascular protein von Willebrand factor is tuned by a strong intermonomer interaction.

artículo científico publicado en 2016

Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactions

artículo científico publicado en 2015

GENE-02. GERMLINE MUTATIONS WITHIN THE SWI/SNF COMPLEX PREDICT PATIENTS’ AGE OF ONSET AND TYPE OF DISEASE.

artículo científico publicado en 2017

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

Haemophilia A: from mutation analysis to new therapies

artículo científico publicado en 2005

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

artículo científico

ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor.

artículo científico publicado en 2009

Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease

artículo científico publicado en 2015

Identification and characterisation of clonal incomplete T-cell-receptor Vdelta2-Ddelta3/Ddelta2-Ddelta3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual diseas

artículo científico publicado en 2003

Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient

scientific article published on 01 August 2007

Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.

artículo científico publicado en 2005

Impaired capacity for acute endogenous fibrinolysis in smokers is restored by ascorbic acid

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor

scientific article published on 01 January 2008

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

Inherited thrombotic thrombocytopenic purpura in children

artículo científico publicado en 2014

Interaction of von Willebrand factor domains with collagen investigated by single molecule force spectroscopy

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Laboratory diagnosis of congenital von Willebrand disease

artículo científico publicado en 2002

Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification

artículo científico publicado en 2006

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

artículo científico publicado en 2005

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

Loss of SMARCB1/INI1 expression in poorly differentiated chordomas

artículo científico publicado en 2010

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

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria ⬇️

artículo científico publicado el 1 de noviembre de 2003

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients

artículo científico publicado en 2006

Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism.

artículo científico publicado en 2017

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

artículo científico publicado en 2006

Mutual A domain interactions in the force sensing protein von Willebrand factor.

artículo científico publicado en 2016

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

artículo científico publicado en 2010

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

artículo científico publicado en 2016

Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome

artículo científico publicado en 2006

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

Paediatric haemostaseology

artículo científico publicado en 2009

Pancytopenia in a 4-year-old boy. 22q11.2 microdeletion syndrome

scientific article published on 01 May 2009

Parvovirus B19 infection and autoimmune hepatitis in a child with sickle cell anemia.

artículo científico publicado en 2010

Performance evaluation and multicentre study of a von Willebrand factor activity assay based on GPIb binding in the absence of ristocetin

artículo científico publicado en 2014

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

artículo científico publicado en 2006

Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update

artículo científico publicado en 2005

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

Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura

artículo científico publicado en 2007

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Prophylactic efficacy and pharmacokinetically guided dosing of a von Willebrand factor/factor VIII concentrate in adults and children with von Willebrand's disease undergoing elective surgery: a pooled and comparative analysis of data from USA and E

artículo científico publicado en 2013

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 ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura

artículo científico publicado en 2017

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

Response to DDAVP in children with von Willebrand disease type 2.

artículo científico publicado en 2009

Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.

artículo científico publicado en 2008

Rhabdoid Tumor Predisposition Syndrome

artículo científico publicado en 2017

Risk of Rotavirus Vaccination for Children with SCID

artículo científico publicado en 2015

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

Severe ADAMTS-13 deficiency in childhood

artículo científico publicado en 2004

Shear-Induced Unfolding and Enzymatic Cleavage of Full-Length VWF Multimers.

artículo científico publicado en 2016

Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cells

artículo científico publicado en 2014

Single molecule force spectroscopy data and BD- and MD simulations on the blood protein von Willebrand factor

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

scientific article published on 01 October 2019

Structure and dynamics of the platelet integrin-binding C4 domain of von Willebrand factor

article

Supplementary Therapeutic Recommendations

artículo científico publicado en 2018

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

artículo científico publicado en 2006

Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor

artículo científico publicado en 2014

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: Key findings at enrolment until 2017

artículo científico publicado en 2019

The evolving classification of von Willebrand disease

artículo científico publicado en 2005

The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort

artículo científico publicado en 2018

The impact of bleeding history, von Willebrand factor and PFA-100(®) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD.

artículo científico publicado en 2010

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.

artículo científico publicado en 2010

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

artículo científico publicado en 2002

The pathophysiology of von Willebrand disease: therapeutic implications

artículo científico

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

artículo científico publicado en 2009

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

artículo científico publicado en 2005

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

scientific article published on 26 October 2018

Thrombosis in infants and children

artículo científico publicado en 2006

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

Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).

artículo científico publicado en 2004

Ultralarge von Willebrand factor fibers mediate luminal Staphylococcus aureus adhesion to an intact endothelial cell layer under shear stress

artículo científico publicado en 2013

Update on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis

artículo científico publicado en 2014

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation

scientific article published on 04 May 2020

Using ImageJ for the quantitative analysis of flow-based adhesion assays in real-time under physiologic flow conditions

artículo científico publicado en 2010

VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease

artículo científico publicado en 2013

Von Willebrand Factor Mediates Pneumococcal Aggregation and Adhesion in Blood Flow

scientific article published in 2019

Von Willebrand factor regulates complement on endothelial cells.

artículo científico publicado en 2016

[Hemophilia B (factor IX deficiency) with concomitant factor XII degradation in a male crossbreed cat]

artículo científico publicado en 2005

pH-Dependent Interactions in Dimers Govern the Mechanics and Structure of von Willebrand Factor

artículo científico publicado en 2016

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

artículo científico publicado en 2002

von Willebrand factor directly interacts with DNA from neutrophil extracellular traps.

artículo científico publicado en 2014

von Willebrand factor is dimerized by protein disulfide isomerase

artículo científico publicado en 2015

von Willebrand factor-cleaving protease (ADAMTS13) in the course of stem cell transplantation

artículo científico publicado en 2006

Lista de obras de Reinhard Schneppenheim

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

A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

AT-06THE EXTRAORDINARY CHALLENGE OF TREATING PATIENTS WITH CONGENITAL RHABDOID TUMORS - DATA FROM FRANCE, RUSSIA AND THE EU-RHAB REGISTRY.

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.

AT-13THE EU-RHAB EXPERIENCE: CLINICAL, GENETIC AND SURVIVAL DATA DEFINE A STANDARD OF CARE AND ARE THE BASIS FOR CLINICAL TRIALS.

ATRT-06. CLINICAL AND MOLECULAR RISK FACTORS IN CHILDREN WITH ATYPICAL TERATOID/RHABDOID TUMOUR (AT/RT) - EVIDENCE FROM THE EU-RHAB REGISTRY

ATRT-16. CONGENITAL RHABDOID TUMORS AS A MAJOR CLINICAL CHALLENGE - A COLLABORATIVE EUROPEAN EFFORT

Acquired hemophilia A and von Willebrand syndrome in a patient with late-onset systemic lupus erythematosus

Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.

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

Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging

Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT)

Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations

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

Atypical teratoid/rhabdoid tumor arising in a malignant glioma

Bleeding symptoms in patients diagnosed as type 3 Von Willebrand Disease: results from 3WINTERS-IPS, an international and collaborative cross-sectional study

Cellular stress induces erythrocyte assembly on intravascular von Willebrand factor strings and promotes microangiopathy

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.

Characterization of VWF gene conversions causing von Willebrand disease

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

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

Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

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

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

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

DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach.

Denosumab: a potential new and innovative treatment option for aneurysmal bone cysts

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

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura

Distinct role of von Willebrand factor triplet bands in glycoprotein Ib-dependent platelet adhesion and thrombus formation under flow.

Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping

Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease

Exponential size distribution of von Willebrand factor

Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).

Force sensing by the vascular protein von Willebrand factor is tuned by a strong intermonomer interaction.

Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactions

GENE-02. GERMLINE MUTATIONS WITHIN THE SWI/SNF COMPLEX PREDICT PATIENTS’ AGE OF ONSET AND TYPE OF DISEASE.

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

Haemophilia A: from mutation analysis to new therapies

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

ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor.

Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease

Identification and characterisation of clonal incomplete T-cell-receptor Vdelta2-Ddelta3/Ddelta2-Ddelta3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual diseas

Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient

Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

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

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.

Impaired capacity for acute endogenous fibrinolysis in smokers is restored by ascorbic acid

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

Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor

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

Inherited thrombotic thrombocytopenic purpura in children

Interaction of von Willebrand factor domains with collagen investigated by single molecule force spectroscopy

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

Laboratory diagnosis of congenital von Willebrand disease

Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

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

Loss of SMARCB1/INI1 expression in poorly differentiated chordomas

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

Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria ⬇️

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients

Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism.

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

Mutual A domain interactions in the force sensing protein von Willebrand factor.

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome

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