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Items: 1 to 50 of 68

1.

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 MC, Schneppenheim R, Schüller U.

Eur J Hum Genet. 2018 Aug;26(8):1083-1093. doi: 10.1038/s41431-018-0143-1. Epub 2018 Apr 30. Review.

PMID:
29706634
2.

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

Hassenpflug WA, Obser T, Bode J, Oyen F, Budde U, Schneppenheim S, Schneppenheim R, Brehm MA.

Thromb Haemost. 2018 Apr;118(4):709-722. doi: 10.1055/s-0038-1637749. Epub 2018 Mar 19.

PMID:
29554699
3.

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

Johann PD, Bens S, Oyen F, Wagener R, Giannini C, Perry A, Raisanen JM, Reis GF, Nobusawa S, Arita K, Felsberg J, Reifenberger G, Agaimy A, Buslei R, Capper D, Pfister SM, Schneppenheim R, Siebert R, Frühwald MC, Paulus W, Kool M, Hasselblatt M.

Am J Surg Pathol. 2018 Apr;42(4):506-511. doi: 10.1097/PAS.0000000000001023.

PMID:
29324471
4.

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

Hasselblatt M, Kurniawan AD, Rozsnoki S, Johann PD, Bens S, Oyen F, Schneppenheim R, Siebert R, Capper D, Kool M, Schul C, Paulus W.

Neuropathol Appl Neurobiol. 2018 Feb;44(2):229-232. doi: 10.1111/nan.12395. No abstract available.

PMID:
28218953
5.

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 Dec;186(12):3285-3296. doi: 10.1016/j.ajpath.2016.08.019. Epub 2016 Oct 17.

PMID:
27765635
6.

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

Lehmberg K, Hassenpflug WA, Klaassen I, Hillebrand G, Oyen F, Budde U, Singer D, Schneppenheim R.

Z Geburtshilfe Neonatol. 2017 Feb;221(1):39-42. doi: 10.1055/s-0042-109404. Epub 2016 Jul 6.

PMID:
27383044
7.

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

Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson CR, Aldape K, Kim SP, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones DTW, Pfister SM, Schneppenheim R, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M.

Brain Pathol. 2017 Jul;27(4):411-418. doi: 10.1111/bpa.12413. Epub 2016 Aug 11.

PMID:
27380723
8.

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

Vokuhl C, Oyen F, Häberle B, von Schweinitz D, Schneppenheim R, Leuschner I.

Genes Chromosomes Cancer. 2016 Dec;55(12):925-931. doi: 10.1002/gcc.22390. Epub 2016 Jul 29.

PMID:
27356182
9.

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.

Obser T, Ledford-Kraemer M, Oyen F, Brehm MA, Denis CV, Marschalek R, Montgomery RR, Sadler JE, Schneppenheim S, Budde U, Schneppenheim R.

J Thromb Haemost. 2016 Sep;14(9):1725-35. doi: 10.1111/jth.13398. Epub 2016 Aug 20.

10.

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 RD, Teichert von Luettichau I, Nagel I, Nygaard R, Oyen F, Quiroga E, Schlegel PG, Schmid I, Schneppenheim R, Siebert R, Solano-Paez P, Timmermann B, Warmuth-Metz M, Frühwald MC.

Cancer Med. 2016 Aug;5(8):1765-75. doi: 10.1002/cam4.741. Epub 2016 May 26.

11.

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 MC.

Pediatr Blood Cancer. 2016 Aug;63(8):1451-3. doi: 10.1002/pbc.25996. Epub 2016 Apr 19.

PMID:
27092963
12.

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 MJ, Antonelli M, Giangaspero F, Bernardo MC, Giannini C, Ud Din N, Perry A, Keyvani K, van Landeghem F, Sumerauer D, Hauser P, Capper D, Korshunov A, Jones DT, Pfister SM, Schneppenheim R, Siebert R, Frühwald MC, Kool M.

Acta Neuropathol. 2016 Jul;132(1):149-51. doi: 10.1007/s00401-016-1574-9. Epub 2016 Apr 11. No abstract available.

PMID:
27067307
13.

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

Johann PD, Erkek S, Zapatka M, Kerl K, Buchhalter I, Hovestadt V, Jones DTW, 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 AE, Ebinger M, Shalaby T, Grotzer M, Sumerauer D, Zamecnik J, Mora J, Jabado N, Taylor MD, Huang A, Aronica E, Bertoni A, Radlwimmer B, Pietsch T, Schüller U, Schneppenheim R, Northcott PA, Korbel JO, Siebert R, Frühwald MC, Lichter P, Eils R, Gajjar A, Hasselblatt M, Pfister SM, Kool M.

Cancer Cell. 2016 Mar 14;29(3):379-393. doi: 10.1016/j.ccell.2016.02.001. Epub 2016 Feb 25.

14.

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 MC, Hernáiz Driever P.

Childs Nerv Syst. 2016 Jun;32(6):1157-61. doi: 10.1007/s00381-015-2999-5. Epub 2016 Jan 8.

PMID:
26747622
15.

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

Grosse R, Lukacs Z, Cobos PN, Oyen F, Ehmen C, Muntau B, Timmann C, Noack B.

Pediatr Blood Cancer. 2016 Jan;63(1):168-70. doi: 10.1002/pbc.25706. Epub 2015 Aug 14.

PMID:
26275168
16.

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 AH, Hartmann W, Barth PJ, Bartelheim K, Seringer A, Wardelmann E, Frühwald MC.

Pediatr Blood Cancer. 2015 May;62(5):897-900. doi: 10.1002/pbc.25412. Epub 2015 Feb 7.

PMID:
25663425
17.

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 MA.

Thromb Res. 2014 Dec;134(6):1285-91. doi: 10.1016/j.thromres.2014.08.013. Epub 2014 Aug 28.

PMID:
25201004
18.

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

Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R.

Acta Neuropathol. 2014 Sep;128(3):453-6. doi: 10.1007/s00401-014-1323-x. Epub 2014 Jul 25. No abstract available.

PMID:
25060813
19.

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

Vu-Han TL, Frühwald MC, Hasselblatt M, Kerl K, Nagel I, Obser T, Oyen F, Siebert R, Schneppenheim R.

Cancer Genet. 2014 Sep;207(9):390-7. doi: 10.1016/j.cancergen.2014.05.008. Epub 2014 May 21.

PMID:
25016934
20.

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 MC.

Cancer Genet. 2014 Sep;207(9):379-83. doi: 10.1016/j.cancergen.2014.04.005. Epub 2014 Apr 21.

PMID:
24972932
21.

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 Jul;20(4):e311-7. doi: 10.1111/hae.12441. Epub 2014 Apr 8.

PMID:
24712919
22.

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.

Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R.

Thromb Haemost. 2014 Jul 3;112(1):96-108. doi: 10.1160/TH13-11-0902. Epub 2014 Mar 6.

PMID:
24598842
23.

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 JG, Budde U, Bokemeyer C, Schneppenheim R.

Thromb Haemost. 2014 Apr 1;111(4):777-9. doi: 10.1160/TH13-06-0462. Epub 2013 Dec 12. No abstract available.

PMID:
24337418
24.

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 Nov;19(6):e344-8. doi: 10.1111/hae.12225. Epub 2013 Jul 9.

PMID:
23834637
25.

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 Haemost. 2013 Apr;109(4):652-60. doi: 10.1160/TH12-10-0737. Epub 2013 Feb 14.

PMID:
23407766
26.

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

Lehmberg K, Grosse R, Muckenthaler MU, Altamura S, Nielsen P, Schmid H, Graubner U, Oyen F, Zeller W, Schneppenheim R, Janka GE.

Ann Hematol. 2013 Mar;92(3):387-94. doi: 10.1007/s00277-012-1618-8. Epub 2012 Nov 20.

PMID:
23180434
27.

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

Ahmad F, Jan R, Kannan M, Obser T, Hassan MI, Oyen F, Budde U, Saxena R, Schneppenheim R.

Thromb Haemost. 2013 Jan;109(1):39-46. doi: 10.1160/TH12-07-0475. Epub 2012 Nov 22.

PMID:
23179108
28.

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.

Genes Chromosomes Cancer. 2013 Feb;52(2):185-90. doi: 10.1002/gcc.22018. Epub 2012 Oct 17.

PMID:
23074045
29.

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 AR, Frühwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W.

Am J Surg Pathol. 2011 Jun;35(6):933-5. doi: 10.1097/PAS.0b013e3182196a39.

PMID:
21566516
30.

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 Á, Szélessy ZS, Várkonyi A, Vezendy K, Vilimi B, Schneppenheim R, Bodó I.

J Thromb Haemost. 2011 May;9(5):945-52. doi: 10.1111/j.1538-7836.2011.04250.x.

31.

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 Haemost. 2011 Feb;105(2):279-84. doi: 10.1160/TH10-09-0570. Epub 2010 Nov 23.

PMID:
21103668
32.

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 JJ, Obser T, Oyen F, Pieconka A, Schneppenheim S, Will K, Zieger B, Budde U.

Blood. 2010 Jun 10;115(23):4894-901. doi: 10.1182/blood-2009-07-226324. Epub 2010 Mar 29.

33.

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

Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R.

Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.

34.

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.

Klukowska A, Niewiadomska E, Budde U, Oyen F, Schneppenheim R.

J Pediatr Hematol Oncol. 2010 Mar;32(2):103-7. doi: 10.1097/MPH.0b013e3181cbd265.

PMID:
20118810
35.

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 MC, Schneppenheim R, Siebert R, Paulus W.

J Neuropathol Exp Neurol. 2009 Dec;68(12):1249-55. doi: 10.1097/NEN.0b013e3181c06a51.

PMID:
19915490
36.

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

Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R.

Genes Chromosomes Cancer. 2010 Feb;49(2):176-81. doi: 10.1002/gcc.20729.

PMID:
19902524
37.

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 JI, Harder L, Baudis M, Arnold N, Kordes U, Dührsen U, Schneppenheim R, Siebert R.

Cancer Genet Cytogenet. 2009 Jul;192(1):44-7. doi: 10.1016/j.cancergencyto.2009.03.001.

PMID:
19480937
38.

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

Schneppenheim R, Budde U, Beutel K, Hassenpflug WA, Hauch H, Obser T, Oyen F, Schneppenheim S, Schrum J.

Hamostaseologie. 2009 May;29(2):143-8.

PMID:
19404524
39.

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 May;29(2):158-60.

PMID:
19404520
40.

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 Oct;6(10):1729-35. doi: 10.1111/j.1538-7836.2008.03107.x. Epub 2008 Jul 28.

41.

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Gupta PK, Saxena R, Adamtziki E, Budde U, Oyen F, Obser T, Schneppenheim R.

Blood Cells Mol Dis. 2008 Sep-Oct;41(2):219-22. doi: 10.1016/j.bcmd.2008.03.004. Epub 2008 May 16.

PMID:
18485763
42.

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

Fischer-Maas L, Schneppenheim R, Oyen F, Grabhorn E, Richter A, Fischer L, Ganschow R.

Pediatr Transplant. 2008 Nov;12(7):769-72. doi: 10.1111/j.1399-3046.2007.00900.x. Epub 2008 Jan 8.

PMID:
18194353
43.

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 HJ, Wolf G.

Clin Nephrol. 2007 Dec;68(6):405-11.

PMID:
18184524
44.

A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3.

Schneppenheim R, Castaman G, Federici AB, Kreuz W, Marschalek R, Oldenburg J, Oyen F, Budde U.

J Thromb Haemost. 2007 Apr;5(4):722-8. Epub 2007 Feb 26.

45.

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

Wetzstein V, Budde U, Oyen F, Ding X, Herrmann J, Liebig B, Schneppenheim R.

Haematologica. 2006 Dec;91(12 Suppl):ECR60.

46.

A common origin of the 4143insA ADAMTS13 mutation.

Schneppenheim R, Kremer Hovinga JA, Becker T, Budde U, Karpman D, Brockhaus W, Hrachovinová I, Korczowski B, Oyen F, Rittich S, von Rosen J, Tjønnfjord GE, Pimanda JE, Wienker TF, Lämmle B.

Thromb Haemost. 2006 Jul;96(1):3-6.

PMID:
16807643
47.

Gene conversions are a common cause of von Willebrand disease.

Gupta PK, Adamtziki E, Budde U, Jaiprakash M, Kumar H, Harbeck-Seu A, Kannan M, Oyen F, Obser T, Wedekind I, Saxena R, Schneppenheim R.

Br J Haematol. 2005 Sep;130(5):752-8.

PMID:
16115133
48.

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 Haemost. 2004 Jul;92(1):36-41.

PMID:
15213842
49.

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

Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW.

Blood. 2003 Mar 1;101(5):1845-50. Epub 2002 Oct 17.

50.

The toxicity of 1,3-dichloropropene as determined by repeated exposure of laboratory animals.

Torkelson TR, Oyen F.

Am Ind Hyg Assoc J. 1977 May;38(5):217-23. No abstract available.

PMID:
868761

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