Prof. em. Dr. rer. nat.
Reinhard Schneppenheim
  • Emeritus
  • Medical Specialist in Pediatrics and Youth Medicine, with focus on Childrens' Hematology and Oncology
  • Hämostaseologie
Working area

Location

N21 , 2nd Floor
Languages
German (Mother tongue)
English

Areas of expertise

Awards

Memberships

Publications

2019

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction
Schneppenheim R, Hellermann N, Brehm M, Klemm U, Obser T, Huck V, Schneider S, Denis C, Tischer A, Auton M, März W, Xu E, Wilmanns M, Zotz R
BLOOD. 2019;133(4):356 - 365.

Structure and dynamics of the platelet integrin-binding C4 domain of von Willebrand factor
Xu E, von Bülow S, Chen P, Lenting P, Kolšek K, Aponte-Santamaría C, Simon B, Foot J, Obser T, Schneppenheim R, Gräter F, Denis C, Wilmanns M, Hennig J
BLOOD. 2019;133(4):366-376.

2018

Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome
Hasselblatt M, Kurniawan A, Rozsnoki S, Johann P, Bens S, Oyen F, Schneppenheim R, Siebert R, Capper D, Kool M, Schul C, Paulus W
NEUROPATH APPL NEURO. 2018;44(2):229-232.

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany
Hassenpflug W, Obser T, Bode J, Oyen F, Budde U, Schneppenheim S, Schneppenheim R, Brehm M
THROMB HAEMOSTASIS. 2018;118(4):709-722.

Supplementary Therapeutic Recommendations
Hassenpflug W, Schneppenheim R
DTSCH ARZTEBL INT. 2018;155(37):608.

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis
Holsten T, Bens S, Oyen F, Nemes K, Hasselblatt M, Kordes U, Siebert R, Frühwald M, Schneppenheim R, Schüller U
EUR J HUM GENET. 2018;26(8):1083-1093.

Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup
Johann P, Bens S, Oyen F, Wagener R, Giannini C, Perry A, Raisanen J, Reis G, Nobusawa S, Arita K, Felsberg J, Reifenberger G, Agaimy A, Buslei R, Capper D, Pfister S, Schneppenheim R, Siebert R, Frühwald M, Paulus W, Kool M, Hasselblatt M
AM J SURG PATHOL. 2018;42(4):506-511.

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Kehrer-Sawatzki H, Kordes U, Seiffert S, Summerer A, Hagel C, Schüller U, Farschtschi S, Schneppenheim R, Bendszus M, Godel T, Mautner V
Mol Genet Genomic Med. 2018 [Epub ahead of print].

The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort
Nemes K, Clément N, Kachanov D, Bens S, Hasselblatt M, Timmermann B, Schneppenheim R, Gerss J, Siebert R, Furtwängler R, Bourdeaut F, Frühwald M
PEDIATR BLOOD CANCER. 2018;65:e26999.

Cellular stress induces erythrocyte assembly on intravascular von Willebrand factor strings and promotes microangiopathy
Nicolay J, Thorn V, Daniel C, Amann K, Siraskar B, Lang F, Hillgruber C, Goerge T, Hoffmann S, Gorzelanny C, Huck V, Mess C, Obser T, Schneppenheim R, Fleming I, Schneider M, Schneider S
SCI REP-UK. 2018;8(1):10945.

Interaction of von Willebrand factor domains with collagen investigated by single molecule force spectroscopy
Posch S, Obser T, König G, Schneppenheim R, Tampé R, Hinterdorfer P
J CHEM PHYS. 2018;148(12):123310.

An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS-VWF study
Szederjesi A, Baronciani L, Budde U, Castaman G, Lawrie A, Liu Y, Montgomery R, Peyvandi F, Schneppenheim R, Várkonyi A, Patzke J, Bodó I
J THROMB HAEMOST. 2018 [Epub ahead of print].

2017

Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism
Aponte-Santamaría C, Lippok S, Mittag J, Obser T, Schneppenheim R, Baldauf C, Gräter F, Budde U, Rädler J
BIOPHYS J. 2017;112(1):57-65.

Atypical teratoid/rhabdoid tumor arising in a malignant glioma
Bozzai B, Hasselblatt M, Turányi E, Frühwald M, Siebert R, Bens S, Schneppenheim R, Kool M, Stelczer G, Hortobágyi T, Hauser P
PEDIATR BLOOD CANCER. 2017;64(1):96-99.

Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome
Johann P, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson C, Aldape K, Kim S, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones D, Pfister S, Schneppenheim R, Siebert R, Paulus W, Frühwald M, Kool M, Hasselblatt M
BRAIN PATHOL. 2017;27(4):411-418.

Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series
Lehmberg K, Hassenpflug W, Klaassen I, Hillebrand G, Oyen F, Budde U, Singer D, Schneppenheim R
Z GEBURTSH NEONATOL . 2017;221(1):39-42.

Mutual A domain interactions in the force sensing protein von Willebrand factor
Posch S, Aponte-Santamaría C, Schwarzl R, Karner A, Radtke M, Gräter F, Obser T, König G, Brehm M, Gruber H, Netz R, Baldauf C, Schneppenheim R, Tampé R, Hinterdorfer P
J STRUCT BIOL. 2017;197(1):57-64.

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
Ripperger T, Bielack S, Borkhardt A, Brecht I, Burkhardt B, Calaminus G, Debatin K, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald M, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm C, Kuhlen M, Kulozik A, Lamottke B, Leuschner I, Lohmann D, Meinhardt A, Metzler M, Meyer L, Moser O, Nathrath M, Niemeyer C, Nustede R, Pajtler K, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren A, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister S, Kratz C
AM J MED GENET A. 2017;173(4):1017-1037.

Recombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura
Scully M, Knöbl P, Kentouche K, Rice L, Windyga J, Schneppenheim R, Kremer Hovinga J, Kajiwara M, Fujimura Y, Maggiore C, Doralt J, Hibbard C, Martell L, Ewenstein B
BLOOD. 2017;130(19):2055-2063.

Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping
Tischer A, Machha V, Frontroth J, Brehm M, Obser T, Schneppenheim R, Mayne L, Walter Englander S, Auton M
J MOL BIOL. 2017;429(14):2161-2177.

2016

Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report
Arnhold V, Oyen F, Schneppenheim R, Haberl H, Koch A, Frühwald M, Hernáiz Driever P
CHILD NERV SYST. 2016;32(6):1157-61.

Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007
Bartelheim K, Nemes K, Seeringer A, Kerl K, Buechner J, Boos J, Graf N, Dürken M, Gerss J, Hasselblatt M, Kortmann R, Teichert von Luettichau I, Nagel I, Nygaard R, Oyen F, Quiroga E, Schlegel P, Schmid I, Schneppenheim R, Siebert R, Solano-Paez P, Timmermann B, Warmuth-Metz M, Frühwald M
CANCER MED-US. 2016;5(8):1765-75.

Unterarmgangrän bei "normaler" Gerinnung.
Blohm M, Lehmberg K, Schrum J, Helmke K, Ridderbusch I, Schneppenheim R, Singer D
Z GEBURTSH NEONATOL . 2016;220:133-134.

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis
Hasselblatt M, Thomas C, Hovestadt V, Schrimpf D, Johann P, Bens S, Oyen F, Peetz-Dienhart S, Crede Y, Wefers A, Vogel H, Riemenschneider M, Antonelli M, Giangaspero F, Bernardo M, Giannini C, Ud Din N, Perry A, Keyvani K, van Landeghem F, Sumerauer D, Hauser P, Capper D, Korshunov A, Jones D, Pfister S, Schneppenheim R, Siebert R, Frühwald M, Kool M
ACTA NEUROPATHOL. 2016;132(1):149-51.

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes
Johann P, Erkek S, Zapatka M, Kerl K, Buchhalter I, Hovestadt V, Jones D, Sturm D, Hermann C, Segura Wang M, Korshunov A, Rhyzova M, Gröbner S, Brabetz S, Chavez L, Bens S, Gröschel S, Kratochwil F, Wittmann A, Sieber L, Geörg C, Wolf S, Beck K, Oyen F, Capper D, van Sluis P, Volckmann R, Koster J, Versteeg R, von Deimling A, Milde T, Witt O, Kulozik A, Ebinger M, Shalaby T, Grotzer M, Sumerauer D, Zamecnik J, Mora J, Jabado N, Taylor M, Huang A, Aronica E, Bertoni A, Radlwimmer B, Pietsch T, Schüller U, Schneppenheim R, Northcott P, Korbel J, Siebert R, Frühwald M, Lichter P, Eils R, Gajjar A, Hasselblatt M, Pfister S, Kool M
CANCER CELL. 2016;29(3):379-93.

Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant
Kerl K, Oyen F, Giannikopoulou D, Rössig C, Rellensmann G, Sandkötter J, Brentrup A, Selzer G, Schneppenheim R, Frühwald M
PEDIATR BLOOD CANCER. 2016;63(8):1451-3.

von Willebrand factor is dimerized by protein disulfide isomerase
Lippok S, Kolšek K, Löf A, Eggert D, Vanderlinden W, Müller J, König G, Obser T, Röhrs K, Schneppenheim S, Budde U, Baldauf C, Aponte-Santamaría C, Gräter F, Schneppenheim R, Rädler J, Brehm M
BLOOD. 2016;127(9):1183-91.

Shear-Induced Unfolding and Enzymatic Cleavage of Full-Length VWF Multimers
Lippok S, Radtke M, Obser T, Kleemeier L, Schneppenheim R, Budde U, Netz R, Rädler J
BIOPHYS J. 2016;110(3):545-54.

pH-Dependent Interactions in Dimers Govern the Mechanics and Structure of von Willebrand Factor
Müller J, Löf A, Mielke S, Obser T, Bruetzel L, Vanderlinden W, Lipfert J, Schneppenheim R, Benoit M
BIOPHYS J. 2016;111(2):312-22.

Force sensing by the vascular protein von Willebrand factor is tuned by a strong intermonomer interaction
Müller J, Mielke S, Löf A, Obser T, Beer C, Bruetzel L, Pippig D, Vanderlinden W, Lipfert J, Schneppenheim R, Benoit M
P NATL ACAD SCI USA. 2016;113(5):1208-13.

Von Willebrand factor regulates complement on endothelial cells
Noone D, Riedl M, Pluthero F, Bowman M, Liszewski M, Lu L, Quan Y, Balgobin S, Schneppenheim R, Schneppenheim S, Budde U, James P, Atkinson J, Palaniyar N, Kahr W, Licht C
KIDNEY INT. 2016;90(1):123-34.

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
Obser T, Ledford-Kraemer M, Oyen F, Brehm M, Denis C, Marschalek R, Montgomery R, Sadler J, Schneppenheim S, Budde U, Schneppenheim R
J THROMB HAEMOST. 2016;14(9):1725-35.

Single molecule force spectroscopy data and BD- and MD simulations on the blood protein von Willebrand factor
Posch S, Aponte-Santamaría C, Schwarzl R, Karner A, Radtke M, Gräter F, Obser T, König G, Brehm M, Gruber H, Netz R, Baldauf C, Schneppenheim R, Tampé R, Hinterdorfer P
Data Brief. 2016;8:1080-7.

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor
Stahn V, Nagel I, Fischer-Huchzermeyer S, Oyen F, Schneppenheim R, Gesk S, Bohring A, Chikobava L, Young P, Gess B, Werner M, Senner V, Harder A
AM J PATHOL. 2016;186(12):3285-3296.

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Sturm D, Orr B, Toprak U, Hovestadt V, Jones D, Capper D, Sill M, Buchhalter I, Northcott P, Leis I, Ryzhova M, Koelsche C, Pfaff E, Allen S, Balasubramanian G, Worst B, Pajtler K, Brabetz S, Johann P, Sahm F, Reimand J, Mackay A, Carvalho D, Remke M, Phillips J, Perry A, Cowdrey C, Drissi R, Fouladi M, Giangaspero F, Łastowska M, Grajkowska W, Scheurlen W, Pietsch T, Hagel C, Gojo J, Lötsch D, Berger W, Slavc I, Haberler C, Jouvet A, Holm S, Hofer S, Prinz M, Keohane C, Fried I, Mawrin C, Scheie D, Mobley B, Schniederjan M, Santi M, Buccoliero A, Dahiya S, Kramm C, von Bueren A, von Hoff K, Rutkowski S, Herold-Mende C, Frühwald M, Milde T, Hasselblatt M, Wesseling P, Rößler J, Schüller U, Ebinger M, Schittenhelm J, Frank S, Grobholz R, Vajtai I, Hans V, Schneppenheim R, Zitterbart K, Collins V, Aronica E, Varlet P, Puget S, Dufour C, Grill J, Figarella-Branger D, Wolter M, Schuhmann M, Shalaby T, Grotzer M, van Meter T, Monoranu C, Felsberg J, Reifenberger G, Snuderl M, Forrester L, Koster J, Versteeg R, Volckmann R, van Sluis P, Wolf S, Mikkelsen T, Gajjar A, Aldape K, Moore A, Taylor M, Jones C, Jabado N, Karajannis M, Eils R, Schlesner M, Lichter P, von Deimling A, Pfister S, Ellison D, Korshunov A, Kool M
CELL. 2016;164(5):1060-72.

Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?
Vokuhl C, Oyen F, Häberle B, von Schweinitz D, Schneppenheim R, Leuschner I
GENE CHROMOSOME CANC. 2016;55(12):925-931.

2015

Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactions
Aponte-Santamaria C, Huck V, Posch S, Bronowska A, Grässle S, Brehm M, Obser T, Schneppenheim R, Hinterdorfer P, Schneider S, Baldauf C, Grater F
BIOPHYS J. 2015;108(9):2312-21.

Force-sensitive autoinhibition of the von Willebrand factor mediated by inter-domain interactions
Aponte-Santamaría C, Huck V, Posch S, Bronowska A, Grässle S, Brehm M, Obser T, Schneppenheim R, Hinterdorfer P, Schneider S, Baldauf C, Gräter F
BIOPHYS J. 2015;108(9):2312-21.

Platelet dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH
Bodó I, Eikenboom J, Montgomery R, Patzke J, Schneppenheim R, Di Paola J
J THROMB HAEMOST. 2015;13(7):1345-1350.

Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor
Kerl K, Oyen F, Leuschner I, Schneppenheim R, Nagel I, Siebert R, Groll A, Hartmann W, Barth P, Bartelheim K, Seringer A, Wardelmann E, Frühwald M
PEDIATR BLOOD CANCER. 2015;62(5):897-900.

Risk of Rotavirus Vaccination for Children with SCID
Klinkenberg D, Blohm M, Hoehne M, Mas Marques A, Malecki M, Schildgen V, Schneppenheim R, Müller I, Schildgen O, Kobbe R
PEDIATR INFECT DIS J. 2015;34(1):114-5.

Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1
Lehnhardt A, Karnatz N, Ahlenstiel-Grunow T, Benz K, Benz M, Budde K, Büscher A, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya C, Müller D, Neuhaus T, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper M
CLIN J AM SOC NEPHRO. 2015;10(5):825-831.

Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project
Maurer M, Mesters R, Schneppenheim R, Knoefler R, Streif W
KLIN PADIATR. 2015;227(3):131-6.

Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady
Maurer M, Mesters R, Schneppenheim R, Streif W
KLIN PADIATR. 2015;227(3):171-172.

Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease
Stockley J, Nisar S, Leo V, Sabi E, Cunningham M, Eikenboom J, Lethagen S, Schneppenheim R, Goodeve A, Watson S, Mundell S, Daly M
PLOS ONE. 2015;10(12):e0143913.

2014

Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease
Ahmad F, Oyen F, Jan R, Budde U, Schneppenheim R, Saxena R
HAEMOPHILIA. 2014;20(4):e311-e317.

Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)
Bartelheim K, Sumerauer D, Behrends U, Kodetova D, Kucera F, Leuschner I, Neumayer P, Oyen F, Rübe C, Siebert R, Schneppenheim R, Seeringer A, Vasovcak P, Frühwald M
CANCER GENET-NY. 2014;207(9):379-83.

High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB)
Benesch M, Bartelheim K, Fleischhack G, Gruhn B, Schlegel P, Witt O, Stachel K, Hauch H, Urban C, Quehenberger F, Massimino M, Pietsch T, Hasselblatt M, Giangaspero F, Kordes U, Schneppenheim R, Hauser P, Klingebiel T, Frühwald M
BONE MARROW TRANSPL. 2014;49(3):370-5.

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor
Brehm M, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider S, Schneppenheim R
THROMB HAEMOSTASIS. 2014;112(1):96-108.

Interactions of von Willebrand factor and ADAMTS13 in von Willebrand disease and thrombotic thrombocytopenic purpura
Budde U, Schneppenheim R
HAMOSTASEOLOGIE. 2014;34(3):215-25.

Acquired hemophilia A and von Willebrand syndrome in a patient with late-onset systemic lupus erythematosus
Dicke C, Holstein K, Schneppenheim S, Dittmer R, Schneppenheim R, Bokemeyer C, Iking-Konert C, Budde U, Langer F
Exp Hematol Oncol. 2014;3:21.

Identification of novel NOTCH1 mutations: increasing our knowledge of the NOTCH signaling pathway
Gallo Llorente L, Luther H, Schneppenheim R, Zimmermann M, Felice M, Horstmann M
PEDIATR BLOOD CANCER. 2014;61(5):788-96.

von Willebrand Factor Directly Interacts With DNA From Neutrophil Extracellular Traps
Grässle S, Huck V, Pappelbaum K, Gorzelanny C, Aponte-Santamaría C, Baldauf C, Gräter F, Schneppenheim R, Obser T, Schneider S
ARTERIOSCL THROM VAS. 2014;34(7):1382-1389.

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis
Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell R, Schüller U, Junckerstorff R, Rosenblum M, Alassiri A, Rossi S, Schmid I, Gottardo N, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts M, Foulkes W, Siebert R, Frühwald M, Schneppenheim R
ACTA NEUROPATHOL. 2014;128(3):453-6.

Inherited thrombotic thrombocytopenic purpura in children
Hassenpflug W, Budde U, Schneppenheim S, Schneppenheim R
SEMIN THROMB HEMOST. 2014;40(4):487-92.

Successful second ITI with factor IX and combined immunosuppressive therapy. A patient with severe haemophilia B and recurrence of a factor IX inhibitor
Holstein K, Schneppenheim R, Schrum J, Bokemeyer C, Langer F
HAMOSTASEOLOGIE. 2014;34 (4A):5-8.

Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)
Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Frühwald M
PEDIATR BLOOD CANCER. 2014;61(5):919-21.

Platelet-free shear flow assay facilitates analysis of shear-dependent functions of VWF and ADAMTS13
Kraus E, Kraus K, Obser T, Oyen F, Klemm U, Schneppenheim R, Brehm M
THROMB RES. 2014;134(6):1285-1291.

Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion
Langer F, Obser T, Oyen F, Spath B, Holstein K, Greinacher A, White J, Budde U, Bokemeyer C, Schneppenheim R
THROMB HAEMOSTASIS. 2014;111(4):777-779.

Performance evaluation and multicentre study of a von Willebrand factor activity assay based on GPIb binding in the absence of ristocetin
Patzke J, Budde U, Huber A, Méndez A, Muth H, Obser T, Peerschke E, Wilkens M, Schneppenheim R
BLOOD COAGUL FIBRIN. 2014;25(8):860-870.

Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cells
Schneppenheim J, Hüttl S, Kruchen A, Fluhrer R, Müller I, Saftig P, Schneppenheim R, Martin C, Schröder B
BIOCHEM BIOPH RES CO. 2014;451(1):48-53.

Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry
Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S, Timmermann B, Kortmann R, Koscielniak E, Schneppenheim R, Warmuth-Metz M, Gerß J, Siebert R, Graf N, Boos J, Frühwald M
KLIN PADIATR. 2014;226(3):143-148.

Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor
Seeringer A, Reinhard H, Hasselblatt M, Schneppenheim R, Siebert R, Bartelheim K, Leuschner I, Frühwald M
CANCER GENET-NY. 2014;207(9):429-33.

Update on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis
Stockschlaeder M, Schneppenheim R, Budde U
BLOOD COAGUL FIBRIN. 2014;25(3):206-16.

Therapie hereditärer Thrombozytopathien. Interdisziplinäre S2K-Leitlinie der Ständigen Kommission Pädiatrie der Gesellschaft für Thrombose- und Hämostaseforschung e. V
Streif W, Knöfler R, Eberl W, Andres O, Bakchoul T, Bergmann F, Beutel K, Dittmer R, Gehrisch S, Gottstein S, Halimeh S, Haselböck J, Hassenpflug W, Heine S, Holzhauer S, King S, Kirchmaier C, Krause M, Kreuz W, Lösche W, Mahnel R, Maurer M, Nimtz-Talaska A, Olivieri M, Rott H, Schambeck C, Schedel A, Schilling F, Schmugge M, Schneppenheim R, Scholz U, Scholz T, Schulze H, Siegemund A, Strauß G, Sykora K, Wermes C, Wiegering V, Wieland I, Zieger B, Zotz R
HAMOSTASEOLOGIE. 2014;34(4):269-75.

Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells
Vu-Han T, Frühwald M, Hasselblatt M, Kerl K, Nagel I, Obser T, Oyen F, Siebert R, Schneppenheim R
CANCER GENET-NY. 2014;207(9):390-397.

2013

Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients
Ahmad F, Budde U, Jan R, Oyen F, Kannan M, Saxena R, Schneppenheim R
THROMB HAEMOSTASIS. 2013;109(4):652-60.

Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
Ahmad F, Jan R, Kannan M, Obser T, Hassan M, Oyen F, Budde U, Saxena R, Schneppenheim R
THROMB HAEMOSTASIS. 2013;109(1):39-46.

VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease
Eikenboom J, Federici A, Dirven R, Castaman G, Rodeghiero F, Budde U, Schneppenheim R, Batlle J, Canciani M, Goudemand J, Peake I, Goodeve A
BLOOD. 2013;121(12):2336-9.

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient
Enayat M, Ravanbod S, Rassoulzadegan M, Jazebi M, Ala F, Budde U, Schneppenheim S, Obser T, Schneppenheim R
HAEMOPHILIA. 2013;19(4):e261-4.

Distinct role of von Willebrand factor triplet bands in glycoprotein Ib-dependent platelet adhesion and thrombus formation under flow
Fuchs B, de Witt S, Solecka B, Kröning M, Obser T, Cosemans J, Schneppenheim R, Heemskerk J, Kannicht C
SEMIN THROMB HEMOST. 2013;39(3):306-14.

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.
Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald M, Siebert R, Paulus W
GENE CHROMOSOME CANC. 2013;52(2):185-190.

Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations
Jokela V, Lassila R, Szanto T, Joutsi-Korhonen L, Armstrong E, Oyen F, Schneppenheim S, Schneppenheim R
HAEMOPHILIA. 2013;19(6):e344-8.

Pregnancy in Upshaw-Schulman syndrome
Kentouche K, Voigt A, Schleussner E, Schneppenheim R, Budde U, Beck J, Stefańska-Windyga E, Windyga J
HAMOSTASEOLOGIE. 2013;33(2):144-8.

Denosumab: a potential new and innovative treatment option for aneurysmal bone cysts
Lange T, Stehling C, Fröhlich B, Klingenhöfer M, Kunkel P, Schneppenheim R, Escherich G, Gosheger G, Hardes J, Jürgens H, Schulte T
EUR SPINE J. 2013;22(6):1417-22.

Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.
Lehmberg K, Grosse R, Muckenthaler M, Altamura S, Nielsen P, Schmid H, Graubner U, Oyen F, Zeller W, Schneppenheim R, Janka-Schaub G
ANN HEMATOL. 2013;92(3):387-394.

Exponential size distribution of von Willebrand factor
Lippok S, Obser T, Müller J, Stierle V, Benoit M, Budde U, Schneppenheim R, Rädler J
BIOPHYS J. 2013;105(5):1208-16.

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 European Union clinical trials
Mannuccio Mannucci P, Kyrle P, Schulman S, Di Paola J, Schneppenheim R, Cox Gill J
Haematol Blood Transfus. 2013;11(4):533-40.

Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry
Mansouri Taleghani M, von Krogh A, Fujimura Y, George J, Hrachovinová I, Knöbl P, Quist-Paulsen P, Schneppenheim R, Lämmle B, Kremer Hovinga J
HAMOSTASEOLOGIE. 2013;33(2):138-43.

Ultralarge von Willebrand factor fibers mediate luminal Staphylococcus aureus adhesion to an intact endothelial cell layer under shear stress
Pappelbaum K, Gorzelanny C, Grässle S, Suckau J, Laschke M, Bischoff M, Bauer C, Schorpp-Kistner M, Weidenmaier C, Schneppenheim R, Obser T, Sinha B, Schneider S
CIRCULATION. 2013;128(1):50-9.

2012

Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
Castaman G, Giacomelli S, Jacobi P, Obser T, Budde U, Rodeghiero F, Schneppenheim R, Haberichter S
J THROMB HAEMOST. 2012;10(5):951-958.

2011

Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins A, Frühwald M, Obser T, Schneppenheim R, Siebert R, Paulus W
AM J SURG PATHOL. 2011;35(6):933-935.

Parvovirus B19 infection and autoimmune hepatitis in a child with sickle cell anemia.
Kordes U, Schneppenheim R, Briem-Richter A, Scherpe S, Schäfer H
PEDIATR BLOOD CANCER. 2011;56(2):323-324.

Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.
Mohl A, Boda Z, Jager R, Losonczy H, Marosi A, Masszi T, Nagy E, Nemes L, Obser T, Oyen F, Radványi G, Schlammadinger [, Szélessy Z, Várkonyi A, Vezendy K, Vilimi B, Schneppenheim R, Bodó I
J THROMB HAEMOST. 2011;9(5):945-952.

Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.
Roth L, Marschalek R, Oldenburg J, Oyen F, Schneppenheim R
THROMB HAEMOSTASIS. 2011;105(2):279-284.

The pathophysiology of von Willebrand disease: therapeutic implications.
Schneppenheim R
THROMB RES. 2011;128 Suppl 1:3-7.

Regulation der primären Hämostase durch von-Willebrand-Faktor und ADAMTS13
Schneppenheim R, Budde U
HAMOSTASEOLOGIE. 2011;31(4):275-80.

[Von Willebrand factor and ADAMTS13 balancing primary haemostasis].
Schneppenheim R, Budde U
HAMOSTASEOLOGIE. 2011;31(4):275-280.

von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.
Schneppenheim R, Budde U
J THROMB HAEMOST. 2011;9 Suppl 1:209-215.

A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease.
Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici A, Batlle J, Meyer D, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Lethagen S, Hill F, Peake I
HAEMOPHILIA. 2011;17(1):165-166.

2010

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
Castaman G, Giacomelli S, Jacobi P, Obser T, Budde U, Rodeghiero F, Haberichter S, Schneppenheim R
J THROMB HAEMOST. 2010;8(9):2011-2016.

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype
Castaman G, Giacomelli S, Jacobi P, Obser T, Budde U, Rodeghiero F, Haberichter S, Schneppenheim R
J THROMB HAEMOST. 2010;8(9):2011-6.

Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD.
Castaman G, Tosetto A, Cappelletti A, Goodeve A, Federici A, Batlle J, Meyer D, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Lethagen S, Hill F, Peake I, Rodeghiero F
THROMB RES. 2010;126(3):227-231.

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
Castaman G, Tosetto A, Goodeve A, Federici A, Lethagen S, Budde U, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Habart D, Hill F, Peake I, Rodeghiero F
BRIT J HAEMATOL. 2010;151(3):245-51.

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.
Castaman G, Tosetto A, Goodeve A, Federici A, Lethagen S, Ulrich B, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Habart D, Hill F, Peake I, Rodeghiero F
BRIT J HAEMATOL. 2010;151(3):245-251.

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.
Haberichter S, Ulrich B, Obser T, Schneppenheim S, Wermes C, Schneppenheim R
BLOOD. 2010;115(22):4580-4587.

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.
Hampshire D, Burghel G, Goudemand J, Bouvet L, Eikenboom J, Schneppenheim R, Ulrich B, Peake I, Goodeve A
HAEMATOLOGICA. 2010;95(12):2163-2165.

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.
Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici A, James P, Peake I, Eikenboom J, Goodeve A
J THROMB HAEMOST. 2010;8(9):1986-1993.

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels
Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici A, James P, Peake I, Eikenboom J, Goodeve A
J THROMB HAEMOST. 2010;8(9):1986-93.

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.
Klukowska A, Niewiadomska E, Ulrich B, Oyen F, Schneppenheim R
J PEDIAT HEMATOL ONC. 2010;32(2):103-107.

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes U, Briem-Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka-Schaub G
PEDIATR BLOOD CANCER. 2010;54(5):758-760.

Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.
Kordes U, Briem-Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka-Schaub G
PEDIATR BLOOD CANCER. 2010;54(5):758-766.

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.
Kordes U, Gesk S, Frühwald M, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R
GENE CHROMOSOME CANC. 2010;49(2):176-181.

Loss of SMARCB1/INI1 expression in poorly differentiated chordomas.
Mobley B, McKenney J, Bangs C, Callahan K, Yeom K, Schneppenheim R, Hayden M, Cherry A, Gokden M, Edwards M, Fisher P, Vogel H
ACTA NEUROPATHOL. 2010;120(6):745-753.

Laboratory diagnosis of von Willebrand disease.
Patzke J, Schneppenheim R
HAMOSTASEOLOGIE. 2010;30(4):203-206.

Using ImageJ for the quantitative analysis of flow-based adhesion assays in real-time under physiologic flow conditions.
Sascha M, Klinkhardt U, Schneppenheim R, Harder S
PLATELETS. 2010;21(1):60-66.

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Schneppenheim R, Frühwald M, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Subero M, Obser T, Oyen F, Oyen F, Vater I, Siebert R
AM J HUM GENET. 2010;86(2):279-284.

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE
Schneppenheim R, Michiels J, Obser T, Oyen F, Pieconka A, Schneppenheim S, Will K, Zieger B, Budde U
BLOOD. 2010;115(23):4894-901.

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
Schneppenheim R, Michiels J, Obser T, Oyen F, Pieconka A, Schneppenheim S, Will K, Zieger B, Ulrich B
BLOOD. 2010;115(23):4894-4901.

Severe bleeding diathesis associated with moderate thrombocytopenia - diagnostic workup of seven family members with type 2B von Willebrand's disease.
Zdziarska J, Iwaniec T, Skotnicki A, Musia J, Schneppenheim R, Budde U, Kentouche K
HAEMOPHILIA. 2010;16(6):958-962.

2009

ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor.
Beutel K, Hauch H, Rischewski J, Kordes U, Schneppenheim J, Schneppenheim R
HAMOSTASEOLOGIE. 2009;29(2):155-157.

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.
Bug S, Dürig J, Oyen F, Klein-Hitpass L, Martin-Subero J, Harder L, Baudis M, Arnold N, Kordes U, Dührsen U, Schneppenheim R, Siebert R
CANCER GENET CYTOGEN. 2009;192(1):44-47.

Variations in the ratio between von Willebrand factor and its cleaving protease during systemic inflammation and association with severity and prognosis of organ failure.
Claus R, Bockmeyer C, Ulrich B, Kentouche K, Sossdorf M, Hilberg T, Schneppenheim R, Reinhart K, Bauer M, Brunkhorst F, Lösche W
THROMB HAEMOSTASIS. 2009;101(2):239-247.

Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.
Eberl W, Budde U, Bentele K, Christen H, Knapp R, Mey A, Schneppenheim R
HAMOSTASEOLOGIE. 2009;29(2):137-142.

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study
Eikenboom J, Hilbert L, Ribba A, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici A, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Hill F, Peake I, Goodeve A
J THROMB HAEMOST. 2009;7(8):1304-12.

Expression of fourteen von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
Eikenboom J, Hilbert L, Ribba A, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici A, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Oyen F, Peake I, Goodeve A
J THROMB HAEMOST. 2009.

Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.
Hasselblatt M, Oyen F, Gesk S, Kordes U, Brigitte W, Bergmann M, Schmid H, Frühwald M, Schneppenheim R, Siebert R, Paulus W
J NEUROPATH EXP NEUR. 2009;68(12):1249-1255.

Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis
Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Frühwald M, Schneppenheim R, Siebert R, Paulus W
J NEUROPATH EXP NEUR. 2009;68(12):1249-55.

Pancytopenia in a 4-year-old boy. 22q11.2 microdeletion syndrome.
Lehmberg K, Rohr J, Schneppenheim R, Sommerfeld K, Janka-Schaub G
ACTA PAEDIATR. 2009;98(5):769-770, 912-914.

Heterozygous missense protein S mutation in a young boy with incomplete tetraplegia.
Mauz-Koerholz C, Müller T, Kunze C, Schneppenheim R, Bernstaedt M, Koerholz D
KLIN PADIATR. 2009;221(3):180.

Paediatric haemostaseology.
Schneppenheim R
HAMOSTASEOLOGIE. 2009;29(2):133.

Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis.
Schneppenheim R, Baldauf C, Stacklies W, Obser T, Pieconka A, Schneppenheim S, Budde U, Zhou J, Gräter F
J THROMB HAEMOST. 2009;7(12):2096-2105.

Response to DDAVP in children with von Willebrand disease type 2.
Schneppenheim R, Budde U, Beutel K, Hassenpflug W, Hauch H, Obser T, Oyen F, Schneppenheim S, Schrum J
HAMOSTASEOLOGIE. 2009;29(2):143-148.

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.
Schneppenheim R, Schröder J, Obser T, Oyen F, Schneppenheim S, Oldenburg J
HAMOSTASEOLOGIE. 2009;29(2):158-160.

A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression.
van Den H, Esther [, Laat d, Bas [, Eckmann [, Carel M, Michiels [, Jan J, Schneppenheim R, Reinhard [, Ulrich B, Mourik v, Jan A, Versteegh [, Florens G
J PEDIAT HEMATOL ONC. 2009;31(4):277-280.

2008

Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor.
Bockmeyer C, Claus R, Budde U, Kentouche K, Schneppenheim R, Lösche W, Reinhart K, Brunkhorst F
HAEMATOLOGICA. 2008;93(1):137-140.

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).
Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici A, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J THROMB HAEMOST. 2008;6(5):762-771.

Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.
Castaman G, Lethagen S, Federici A, Tosetto A, Goodeve A, Budde U, Batlle J, Meyer D, Mazurier C, Fressinaud E, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Pasi J, Hill F, Peake I, Rodeghiero F
BLOOD. 2008;111(7):3531-3539.

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients.
Fischer-Maas L, Schneppenheim R, Oyen F, Grabhorn E, Briem-Richter A, Fischer L, Ganschow R
PEDIATR TRANSPLANT. 2008;12(7):769-772.

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Gupta P, Saxena R, Adamtziki E, Budde U, Oyen F, Obser T, Schneppenheim R
BLOOD CELL MOL DIS. 2008;41(2):219-222.

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)
Haberichter S, Castaman G, Budde U, Peake I, Goodeve A, Rodeghiero F, Federici A, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Montgomery R
BLOOD. 2008;111(10):4979-85.

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).
Haberichter S, Castaman G, Budde U, Peake I, Goodeve A, Rodeghiero F, Federici A, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Montgomery R
BLOOD. 2008;111(10):4979-4985.

Impaired capacity for acute endogenous fibrinolysis in smokers is restored by ascorbic acid.
Kähler J, Koeke K, Karstens M, Schneppenheim R, Meinertz T, Heitzer T
FREE RADICAL BIO MED. 2008;44(3):315-321.

Successful donor-lymphocyte infusion for extreme immune-hemolysis following unrelated BMT in a patient with X-linked chronic granulomatous disease and McLeod phenotype.
Kordes U, Binder T, Eiermann T, Hassenpflug-Diedrich B, Hassan M, Beutel K, Nagy M, Kabisch H, Schneppenheim R
BONE MARROW TRANSPL. 2008;42(3):219-220.

An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary.
Mohl A, Marschalek R, Masszi T, Nagy E, Obser T, Oyen F, Sallai K, Bodó I, Schneppenheim R
J THROMB HAEMOST. 2008;6(10):1729-1735.

[Inborn and acquired von Willebrand disease]
Schneppenheim R, Budde U
HAMOSTASEOLOGIE. 2008;28(5):312-319.

2007

Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient
Gadisseur A, Vrelust I, Vangenechten I, Schneppenheim R, Van der Planken M
THROMB HAEMOSTASIS. 2007;98(2):464-6.

Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both?
Gerth J, Busch M, Oyen F, Schneppenheim R, Keller T, Budde U, Groene H, Wolf G
CLIN NEPHROL. 2007;68(6):405-11.

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)
Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici A, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, Hallden C, Guilliatt A, Lester W, Peake I
BLOOD. 2007;109(1):112-21.

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
Jakubiczka S, Bettecken T, Mohnike K, Schneppenheim R, Stumm M, Tönnies H, Volleth M, Wieacker P
EUR J PEDIATR. 2007;166(7):743-5.

Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura
Manea M, Kristoffersson A, Schneppenheim R, Saleem M, Mathieson P, Mörgelin M, Björk P, Holmberg L, Karpman D
BRIT J HAEMATOL. 2007;138(5):651-62.

Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD)
Tosetto A, Rodeghiero F, Castaman G, Bernardi M, Bertoncello K, Goodeve A, Federici A, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J THROMB HAEMOST. 2007;5(4):715-21.

2006

Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification
Budde U, Pieconka A, Will K, Schneppenheim R
SEMIN THROMB HEMOST. 2006;32(5):514-21.

Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD
Eikenboom J, Van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G, Federici A, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J THROMB HAEMOST. 2006;4(4):774-82.

von Willebrand factor-cleaving protease (ADAMTS13) in the course of stem cell transplantation
Kentouche K, Zintl F, Angerhaus D, Fuchs D, Hermann J, Schneppenheim R, Budde U
SEMIN THROMB HEMOST. 2006;32(2):98-104.

Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
Sadler J, Budde U, Eikenboom J, Favaloro E, Hill F, Holmberg L, Ingerslev J, Lee C, Lillicrap D, Mannucci P, Mazurier C, Meyer D, Nichols W, Nishino M, Peake I, Rodeghiero F, Schneppenheim R, Ruggeri Z, Srivastava A, Montgomery R, Federici A
J THROMB HAEMOST. 2006;4(10):2103-14.

Thrombosis in infants and children
Schneppenheim R, Greiner J
Hematology Am Soc Hematol Educ Program. 2006;86-96.

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients
Tefs K, Gueorguieva M, Klammt J, Allen C, Aktas D, Anlar F, Aydogdu S, Brown D, Ciftci E, Contarini P, Dempfle C, Dostalek M, Eisert S, Gökbuget A, Günhan O, Hidayat A, Hügle B, Isikoglu M, Irkec M, Joss S, Klebe S, Kneppo C, Kurtulus I, Mehta R, Ornek K, Schneppenheim R, Seregard S, Sweeney E, Turtschi S, Veres G, Zeitler P, Ziegler M, Schuster V
BLOOD. 2006;108(9):3021-6.

A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)
Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici A, Batlle J, Meyer D, Fressinaud E, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J THROMB HAEMOST. 2006;4(4):766-73.

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies H
HUM MUTAT. 2006;27(1):62-8.

2005

Haemophilia A: from mutation analysis to new therapies
Graw J, Brackmann H, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R
NAT GENET. 2005;6(6):488-501.

Hämophilie B (Faktor-IX-Mangel) mit begleitender Faktor-XII-Erniedrigung bei einem Mischlingskater
Lutze G, Kutschmann K, Fürst K, Schneppenheim R
Berliner und Münchener tierärztliche Wochenschrift. 2005;118(5-6):255-60.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R
J INHERIT METAB DIS. 2005;28(6):945-50.

The evolving classification of von Willebrand disease
Schneppenheim R
BLOOD COAGUL FIBRIN. 2005;16 Suppl 1:S3-S10.

Angeborenes und erworbenes von-Willebrand-Syndrom
Schneppenheim R, Barthels M, Budde U
HAMOSTASEOLOGIE. 2005;25(4):367-75.

Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update
Schneppenheim R, Budde U
SEMIN HEMATOL. 2005;42(1):15-28.

DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach
Zur Stadt U, Isbarn H, Schneppenheim R, Kabisch H
INT J ONCOL. 2005;27(2):547-52.

2004

Diagnose der thrombotisch-thrombozytopenischen Purpura
Budde U, Angerhaus D, Obser T, Schneppenheim R
HAMOSTASEOLOGIE. 2004;24(1):65-70.

Standardisierte Diagnostik des von-Willebrand-Syndroms
Budde U, Drewke E, Will K, Schneppenheim R
HAMOSTASEOLOGIE. 2004;24(1):12-26.

Thrombotisch-thrombozytopenische Purpura im Kindesalter
Hassenpflug W, Angerhaus D, Budde U, Obser T, Schneppenheim R
HAMOSTASEOLOGIE. 2004;24(1):71-6.

Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)
Licht C, Stapenhorst L, Simon T, Budde U, Schneppenheim R, Hoppe B
KIDNEY INT. 2004;66(3):955-8.

Molekulare Genetik des von-Willebrand-Syndroms
Schneppenheim R
HAMOSTASEOLOGIE. 2004;24(1):37-43.

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization
Schneppenheim R, Lenk H, Obser T, Oldenburg J, Oyen F, Schneppenheim S, Schwaab R, Will K, Budde U
THROMB HAEMOSTASIS. 2004;92(1):36-41.

2003

2% Hämophilie-A-Patienten ohne Mutation im FVIII-Gen
Uen C, Oldenburg J, Schröder J, Brackmann H, Schramm W, Schwaab R, Schneppenheim R, Graw J
HAMOSTASEOLOGIE. 2003;23(1):1-5.

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 disease monitoring in childhood acute lymphoblastic leukemia
zur Stadt U, Eckert C, Rischewski J, Michael K, Golta S, Müller M, Schneppenheim R, Kabisch H
J CHROMATOGR B ANALYT TECHNOL BIOMED LIFE SCI. 2003;792(2):287-98.

2002

Laboratory diagnosis of congenital von Willebrand disease
Budde U, Drewke E, Mainusch K, Schneppenheim R
SEMIN THROMB HEMOST. 2002;28(2):173-90.

Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F
ACTA PAEDIATR. 2002;91(10):1056-9.

11 hemophilia A patients without mutations in the factor VIII encoding gene
Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J
THROMB HAEMOSTASIS. 2002;88(2):357-60.

2001

Von Willebrand factor and von Willebrand disease
Budde U, Schneppenheim R
Reviews in clinical and experimental hematology. 2001;5(4):335-68; quiz following 431.

Familial Williams-Beuren syndrome showing varying clinical expression
Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, Wessel A, Partsch C
Am J Med Genet. 2001;98(4):324-9.

Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene
Rischewski J, Schneppenheim R
Journal of biochemical and biophysical methods. 2001;47(1-2):53-64.

A molecular approach to the classification of von Willebrand disease
Schneppenheim R, Budde U, Ruggeri Z
BEST PRACT RES CL HA. 2001;14(2):281-98.

Quantification and facilitated comparison of von Willebrand factor multimer patterns by densitometry
Studt J, Budde U, Schneppenheim R, Eisert R, von Depka Prondzinski M, Ganser A, Barthels M
AM J CLIN PATHOL. 2001;116(4):567-74.

Successful treatment of Pseudomonas aeruginosa respiratory tract infection with a sugar solution--a case report on a lectin based therapeutic principle
von Bismarck P, Schneppenheim R, Schumacher U
KLIN PADIATR. 2001;213(5):285-7.

Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia
zur Stadt U, Rischewski J, Schneppenheim R, Kabisch H
CLIN CHEM. 2001;47(11):2003-11.

2000

An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation
Castaman G, Missiaglia E, Federici A, Schneppenheim R, Rodeghiero F
THROMB HAEMOSTASIS. 2000;84(2):350-1.

Paraneoplastic cerebellar degeneration in pediatric Hodgkin disease
Hahn A, Claviez A, Brinkmann G, Altermatt H, Schneppenheim R, Stephani U
NEUROPEDIATRICS. 2000;31(1):42-4.

Hereditary fructose intolerance and alpha(1) antitrypsin deficiency
Hillebrand G, Schneppenheim R, Oldigs H, Santer R
Archives of disease in childhood. 2000;83(1):72-3.

Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients
Pankau R, Partsch C, Gosch A, Siebert R, Schneider M, Schneppenheim R, Winter M, Wessel A
Am J Med Genet. 2000;91(4):322-4.

A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy
Rischewski J, Clausen H, Leber V, Niemeyer C, Ritter J, Schindler D, Schneppenheim R
KLIN PADIATR. 2000;212(4):174-6.

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R
HUM MUTAT. 2000;16(2):177.

Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families
Schneppenheim R, Federici A, Budde U, Castaman G, Drewke E, Krey S, Mannucci P, Riesen G, Rodeghiero F, Zieger B, Zimmermann R
THROMB HAEMOSTASIS. 2000;83(1):136-40.

1999

Intracerebral hemorrhage as a late complication after CNS treatment of childhood lymphoma
Claviez A, Neubauer B, Link J, Schneppenheim R
KLIN PADIATR. 1999;210(6):406-8.

Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome
Partsch C, Dreyer G, Gosch A, Winter M, Schneppenheim R, Wessel A, Pankau R
J PEDIATR-US. 1999;134(1):82-9.

A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP--or von Willebrand type 2B alone?
Rauch R, Budde U, Schneppenheim R, Ries M, Girisch M, Klinge J
EUR J PEDIATR. 1999;158 Suppl 3:S171-3.

1998

Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease
Holmberg L, Karpman D, Isaksson C, Kristoffersson A, Lethagen S, Schneppenheim R
THROMB HAEMOSTASIS. 1998;79(4):718-22.

Bilateral renal vein thrombosis and venous sinus thrombosis in a neonate with factor V mutation (FV Leiden)
Pohl M, Zimmerhackl L, Heinen F, Sutor A, Schneppenheim R, Brandis M
J PEDIATR-US. 1998;132(1):159-61.

Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J
J INHERIT METAB DIS. 1998;21(3):191-4.

1997

APC resistance in childhood thromboembolism: diagnosis and clinical aspects
Nowak-Göttl U, Schneppenheim R, Vielhaber H
SEMIN THROMB HEMOST. 1997;23(3):253-8.

Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment
Nowak-Göttl U, Vielhaber H, Grohmann J, Schneppenheim R, Koch H
EUR J PEDIATR. 1997;156(3):195-8.

1996

Prevalence of factor V Leiden in children with thrombo-embolism
Aschka I, Aumann V, Bergmann F, Budde U, Eberl W, Eckhof-Donovan S, Krey S, Nowak-Göttl U, Schobess R, Sutor A, Wendisch J, Schneppenheim R
EUR J PEDIATR. 1996;155(12):1009-14.

Hepatopathie bei Patienten mit Neuroblastom Stadium 4S
Claviez A, Hero B, Schneppenheim R, Berthold F
KLIN PADIATR. 1996;208(4):221-8.

Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism
Nowak-Göttl U, Auberger K, Göbel U, Kreuz W, Schneppenheim R, Vielhaber H, Zenz W, Zieger B
EUR J PEDIATR. 1996;155(11):921-7.

Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism
Nowak-Göttl U, Koch H, Aschka I, Kohlhase B, Vielhaber H, Kurlemann G, Oleszcuk-Raschke K, Kehl H, Jürgens H, Schneppenheim R
BRIT J HAEMATOL. 1996;92(4):992-8.

APC resistance in neonates and infants: adjustment of the APTT-based method
Nowak-Göttl U, Kohlhase B, Vielhaber H, Aschka I, Schneppenheim R, Jürgens H
THROMB RES. 1996;81(6):665-70.

Von Willebrand disease
Schneppenheim R
EUR J PEDIATR. 1996;155(9):751-2.

Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease
Schneppenheim R, Brassard J, Krey S, Budde U, Kunicki T, Holmberg L, Ware J, Ruggeri Z
P NATL ACAD SCI USA. 1996;93(8):3581-6.

Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1
Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R
THROMB HAEMOSTASIS. 1996;76(4):598-602.

Geographic distribution and origin of CFTR mutations in Germany
Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms R, Harms H, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze M, Schmidt K, von der Hardt H, Estivill X
HUM GENET. 1996;97(6):727-31.

1995

First case of disseminated Mycobacterium avium infection following chemotherapy for childhood acute myeloid leukemia
Claass A, Claviez A, Westphal E, Rüsch-Gerdes S, Schneppenheim R
INFECTION. 1995;23(5):301-2.

Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
Schneppenheim R, Thomas K, Krey S, Budde U, Jessat U, Sutor A, Zieger B
HUM GENET. 1995;95(6):681-6.

Von Willebrand disease in childhood
Schneppenheim R, Thomas K, Sutor A
SEMIN THROMB HEMOST. 1995;21(3):261-75.

1994

The impact of EBV, proliferation rate, and Bcl-2 expression in Hodgkin's disease in childhood
Claviez A, Tiemann M, Peters J, Kreipe H, Schneppenheim R, Parwaresch R
ANN HEMATOL. 1994;68(2):61-6.

Genetic heterogeneity of severe von Willebrand disease type III in the German population
Schneppenheim R, Krey S, Bergmann F, Bock D, Budde U, Lange M, Linde R, Mittler U, Meili E, Mertes G
HUM GENET. 1994;94(6):640-52.

1993

von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure
Holmberg L, Dent J, Schneppenheim R, Budde U, Ware J, Ruggeri Z
J CLIN INVEST. 1993;91(5):2169-77.

1991

Discrepant results of different tests for antibodies to hepatitis C in children with malignant diseases and in patients on renal replacement therapy
Rautenberg P, Schneppenheim R, Leimenstoll G, Behnke H, Loose G
EUR J CLIN MICROBIOL. 1991;10(11):978-81.

Luminography--a new, highly sensitive visualization method for electrophoresis
Schneppenheim R, Budde U, Dahlmann N, Rautenberg P
ELECTROPHORESIS. 1991;12(5):367-72.

Seroprevalence and significance of antibodies to hepatitis C virus in pediatric patients with malignant diseases
Schneppenheim R, Rautenberg P, Behnke H, Vietor K
KLIN PADIATR. 1991;203(4):273-5.

1990

Luminographic detection of von Willebrand factor multimers in agarose gels and on nitrocellulose membranes
Budde U, Schneppenheim R, Plendl H, Dent J, Ruggeri Z, Zimmerman T
THROMB HAEMOSTASIS. 1990;63(2):312-5.

1989

An EcoRI polymorphism in the human von Willebrand factor (vWF) gene
Ewerhardt B, Ludwig M, Schwaab R, Schneppenheim R, Olek K
NUCLEIC ACIDS RES. 1989;17(13):5416.

1988

Luminography--an alternative assay for detection of von Willebrand factor multimers
Schneppenheim R, Plendl H, Budde U
THROMB HAEMOSTASIS. 1988;60(2):133-6.

1987

A luminescence Western blot with enhanced sensitivity for antibodies to human immunodeficiency virus
Schneppenheim R, Rautenberg P
EUR J CLIN MICROBIOL. 1987;6(1):49-51.

Letzte Aktualisierung aus dem FIS: 22.10.2019 - 05:00 Uhr