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1

Functional analyses of human and zebrafish 18–amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

Katrin Voss, Sonja Stahl, Benjamin M. Hogan, Joerg Reinders, Elisa Schleider, Stefan Schulte-Merker, Ute Felbor

Journal:

Year:

2009

Language:

english

File:

PDF, 457 KB

english, 2009

2

Birth defects after incestuous mating: Calculating the probability of causality and reflecting on the desirability of genetic testing

ten Kate, Leo P., Rath, Matthias, Felbor, Ute, Frints, Suzanna M.G.

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 157 KB

english, 2013

3

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

Ute Felbor, Harald Schilling, Bernhard H. F. Weber

Journal:

Year:

1997

Language:

english

File:

PDF, 239 KB

english, 1997

4

Non–heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development

Natalia Rychkova, Sonja Stahl, Sabine Gaetzner, Ute Felbor

Journal:

Developmental Dynamics

Year:

2005

Language:

english

File:

PDF, 409 KB

english, 2005

5

Prevalence of THAP1 sequence variants in German patients with primary dystonia

Anne S. Söhn, Nicola Glöckle, Andrea Duarte Doetzer, Günther Deuschl, Ute Felbor, Helge R. Topka, Ludger Schöls, Olaf Riess, Peter Bauer, Ulrich Müller, Kathrin Grundmann

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 639 KB

english, 2010

6

Proteomic analysis of cathepsin B and L-deficient mouse brain lysosomes

Sonja Stahl, Yvonne Reinders, Esther Asan, Walther Mothes, Ernst Conzelmann, Albert Sickmann, Ute Felbor

Journal:

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Year:

2007

Language:

english

File:

PDF, 2.03 MB

english, 2007

7

VEGF receptors on PC12 cells mediate transient activation of ERK1/2 and Akt: comparison of nerve growth factor and vascular endothelial growth factor

Ingrid Berger, Sonja Stahl, Natalia Rychkova, Ute Felbor

Journal:

Journal of Negative Results in BioMedicine

Year:

2006

Language:

english

File:

PDF, 785 KB

english, 2006

8

NeueCCM1-Mutation bei einem 2-Jährigen

O. Sürücü, U. Sure, S. Stahl, S. Gaetzner, D. Miller, H. Bertalanffy, U. Felbor

Journal:

Monatsschrift Kinderheilkunde

Year:

2007

Language:

german

File:

PDF, 340 KB

german, 2007

9

Sorsby's fundus dystrophy: a genetically homogeneous condition

Ute Felbor, Bernhard H. F. Weber

Journal:

Der Ophthalmologe

Year:

1998

Language:

german

File:

PDF, 215 KB

german, 1998

10

Clinical impact ofCCMmutation detection in familial cavernous angioma

Oguzkan Sürücü, Ulrich Sure, Sabine Gaetzner, Sonja Stahl, Ludwig Benes, Helmut Bertalanffy, Ute Felbor

Journal:

Child's Nervous System

Year:

2006

Language:

english

File:

PDF, 263 KB

english, 2006

11

Centromeric association of chromosome 16- and 18-derived microchromosomes

Ute Felbor, Désirée Rutschow, Thomas Haaf, Michael Schmid

Journal:

Year:

2002

Language:

english

File:

PDF, 210 KB

english, 2002

12

Large germline deletions and duplication in isolated cerebral cavernous malformation patients

U. Felbor, S. Gaetzner, D. J. Verlaan, R. Vijzelaar, G. A. Rouleau, A. M. Siegel

Journal:

Year:

2007

Language:

english

File:

PDF, 299 KB

english, 2007

13

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

Katrin Voss, Sonja Stahl, Elisa Schleider, Sybille Ullrich, Joachim Nickel, Thomas D. Mueller, Ute Felbor

Journal:

Year:

2007

Language:

english

File:

PDF, 420 KB

english, 2007

14

Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3

Elisa Schleider, Sonja Stahl, Joycelyn Wüstehube, Ulrich Walter, Andreas Fischer, Ute Felbor

Journal:

Year:

2011

Language:

english

File:

PDF, 218 KB

english, 2011

15

CCM1gene deletion identified by MLPA in cerebral cavernous malformation

Sabine Gaetzner, Sonja Stahl, Oguzkan Sürücü, Anne Schaafhausen, Birgit Halliger-Keller, Helmut Bertalanffy, Ulrich Sure, Ute Felbor

Journal:

Neurosurgical Review

Year:

2007

Language:

english

File:

PDF, 330 KB

english, 2007

16

Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes

C. W. TAN, J. NAJM, M.-C. MOREL-KOPP, J. TEO, Q. CHEN, U. FELBOR, C. M WARD

Journal:

Year:

2012

Language:

english

File:

PDF, 221 KB

english, 2012

17

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Weber, Bernhard H. F., Vogt, Gudrun, Pruett, Ronald C., Stöhr, Heidi, Felbor, Ute

Journal:

Nature Genetics

Year:

1994

File:

PDF, 816 KB

1994

18

Allelic heterogeneity of alkaptonuria in Central Europe

Müller, C R, Fregin, A, Srsen, S, Srsnova, K, Halliger-Keller, B, Felbor, U, Seemanova, E, Kress, W

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 213 KB

english, 1999

19

Endostatin phenylalanines 31 and 34 define a receptor binding site

Sonja Stahl, Sabine Gaetzner, Thomas D. Mueller, Ute Felbor

Journal:

Year:

2005

Language:

english

File:

PDF, 407 KB

english, 2005

20

Secreted cathepsin L generates endostatin from collagen XVIII

Journal:

The EMBO Journal

Year:

2000

Language:

english

File:

PDF, 552 KB

english, 2000

21

Endostatin's heparan sulfate-binding site is essential for inhibition of angiogenesis and enhances in situ binding to capillary-like structures in bone explants

Sabine Gaetzner, Martine M.L. Deckers, Sonja Stahl, Clemens Löwik, Bjorn R. Olsen, Ute Felbor

Journal:

Year:

2005

Language:

english

File:

PDF, 358 KB

english, 2005

22

Generation and degradation of human endostatin proteins by various proteinases

Mercedes Ferreras, Ute Felbor, Thomas Lenhard, Bjorn R. Olsen, Jean-Marie Delaissé

Journal:

Year:

2000

Language:

english

File:

PDF, 256 KB

english, 2000

23

A Nonsense Mutation in MSX1 Causes Witkop Syndrome

Dolrudee Jumlongras, Marianna Bei, Jean M. Stimson, Wen-Fang Wang, Steven R. DePalma, Christine E. Seidman, Ute Felbor, Richard Maas, Jonathan G. Seidman, Bjorn R. Olsen

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.14 MB

english, 2001

24

Milde Blutungsneigung bei einer 62-Jährigen mit hereditärer Thrombozytopenie

Ventz, R., Hundemer, M., Witzens-Harig, M., Lehmann, B., Felbor, U., Najm, J.

Journal:

Year:

2013

Language:

german

File:

PDF, 454 KB

german, 2013

25

Predictive genetic testing of at-risk relatives requires analysis of allCCMgenes after identification of an unclassifiedCCM1variant in an individual affected with cerebral cavernous malformations

Schröder, Winnie, Najm, Juliane, Spiegler, Stefanie, Mair, Martina, Viera, Julio, Henn, Wolfram, Felbor, Ute

Journal:

Neurosurgical Review

Year:

2014

Language:

english

File:

PDF, 231 KB

english, 2014

26

35 Jahre Greifswalder Institut für Humangenetik

Journal:

medizinische genetik

Year:

2014

Language:

german

File:

PDF, 435 KB

german, 2014

27

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas

Fauth, C., Rostasy, K., Rath, M., Gizewski, E., Lederer, A.G., Sure, U., Zschocke, J., Felbor, U.

Journal:

Clinical Neurology and Neurosurgery

Year:

2015

Language:

english

File:

PDF, 473 KB

english, 2015

28

Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations

You, Chao, Erol Sandalcioglu, Ibrahim, Dammann, Philipp, Felbor, Ute, Sure, Ulrich, Zhu, Yuan

Journal:

Journal of Cellular and Molecular Medicine

Year:

2013

Language:

english

File:

PDF, 686 KB

english, 2013

29

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

von Podewils, Felix, Kowoll, Victoria, Schroeder, Winnie, Geithner, Julia, Wang, Zhong I., Gaida, Bernadette, Bombach, Paula, Kessler, Christof, Felbor, Ute, Runge, Uwe

Journal:

Epilepsy & Behavior

Year:

2015

Language:

english

File:

PDF, 297 KB

english, 2015

30

Neuronal loss and brain atrophy in mice lacking cathepsins B and L

Felbor, U., Kessler, B., Mothes, W., Goebel, H. H., Ploegh, H. L., Bronson, R. T., Olsen, B. R.

Journal:

Proceedings of the National Academy of Sciences

Year:

2002

Language:

english

File:

PDF, 668 KB

english, 2002

31

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

Wüstehube, Joycelyn, Bartol, Arne, Liebler, Sven S., Brütsch, René, Zhu, Yuan, Felbor, Ute, Sure, Ulrich, Augustin, Hellmut G., Fischer, Andreas

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.09 MB

english, 2010

32

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.

Felbor, U, Stohr, H, Amann, T, Schonherr, U, Apfelstedt-Sylla, E, Weber, B H

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 801 KB

english, 1996

33

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene

Felbor, U., Mutsch, Y., Grehn, F., Muller, C. R, Kress, W.

Journal:

British Journal of Ophthalmology

Year:

1999

Language:

english

File:

PDF, 175 KB

english, 1999

34

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

Pagenstecher, A., Stahl, S., Sure, U., Felbor, U.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 313 KB

english, 2008

35

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

Gehrig, A, Felbor, U, Kelsell, R E, Hunt, D M, Maumenee, I H, Weber, B H

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.11 MB

english, 1998

36

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

Felbor, Ute, Stöhr, Heidl, Amann, Thomas, Schönherr, Ulrich, Weber, Bernhard H.F.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.94 MB

english, 1995

37

Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies

Felbor, U., Gehrig, A., Sauer, C.G., Marquardt, A., K&ouml, hler, M., Schmid, M., Weber, B.H.F.

Journal:

Cytogenetic and Genome Research

Year:

1998

Language:

english

File:

PDF, 849 KB

english, 1998

38

The rare human fragile site 16B

Felbor, U., Feichtinger, W., Schmid, M.

Journal:

Cytogenetic and Genome Research

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

39

Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation

Felbor, U., Kn&ouml, tgen, N., Schams, G., Buwe, A., Steinlein, C., Schmid, M.

Journal:

Cytogenetic and Genome Research

Year:

2004

Language:

english

File:

PDF, 134 KB

english, 2004

40

Sorsby Fundus Dystrophy

Journal:

Archives of Ophthalmology

Year:

1997

Language:

english

File:

PDF, 433 KB

english, 1997

41

Genetics of Cerebral Cavernous Angioma

Felbor, U., Sure, U., Grimm, T., Bertalanffy, H.

Journal:

Zentralblatt für Neurochirurgie

Year:

2006

File:

PDF, 167 KB

2006

42

Genetics of Cerebral Cavernous Angioma

Felbor, U., Sure, U., Grimm, T., Bertalanffy, H.

Journal:

Zentralblatt für Neurochirurgie

Year:

2006

Language:

english

File:

PDF, 167 KB

english, 2006

43

Genetik zerebraler kavernöser Gefäßmalformationen

Journal:

DMW - Deutsche Medizinische Wochenschrift

Year:

2007

Language:

german

File:

PDF, 134 KB

german, 2007

44

Controversial Molecular Classification of Human Cerebrovascular Malformations

Stahl, S., Felbor, U.

Journal:

Year:

2006

Language:

english

File:

PDF, 283 KB

english, 2006

45

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

Joycelyn Wüstehube, Arne Bartol, Sven S. Liebler, René Brütsch, Yuan Zhu, Ute Felbor, Ulrich Sure, Hellmut G. Augustin, Andreas Fischer and Napoleone Ferrara

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.99 MB

english, 2010

46

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

Dammann, Philipp, Wrede, Karsten, Zhu, Yuan, Matsushige, Toshinori, Maderwald, Stefan, Umutlu, Lale, Quick, Harald H., Hehr, Ute, Rath, Matthias, Ladd, Mark E., Felbor, Ute, Sure, Ulrich

Journal:

Journal of Neurosurgery

Year:

2016

Language:

english

File:

PDF, 2.50 MB

english, 2016

47

Propranolol stops progressive multiple cerebral cavernoma in an adult patient

Reinhard, Matthias, Schuchardt, Florian, Meckel, Stephan, Heinz, Jürgen, Felbor, Ute, Sure, Ulrich, Geisen, Ulrich

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 722 KB

english, 2016

48

Authors' response to the letter by Dr. Eisa-Beygi

Reinhard, Matthias, Schuchardt, Florian, Meckel, Stephan, Heinz, Jürgen, Felbor, Ute, Sure, Ulrich, Geisen, Ulrich

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 126 KB

english, 2016

49

Mukoviszidose

Rath, Matthias, Najm, Juliane, Gilberg, Eberhard, Felbor, Ute

Journal:

medizinische genetik

Year:

2016

Language:

german

File:

PDF, 1.69 MB

german, 2016

50

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1 , CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations

Rath, Matthias, Jenssen, Sönke E., Schwefel, Konrad, Spiegler, Stefanie, Kleimeier, Dana, Sperling, Christian, Kaderali, Lars, Felbor, Ute

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.34 MB

english, 2017