Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 73

1.

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.

Much CD, Schwefel K, Skowronek D, Shoubash L, von Podewils F, Elbracht M, Spiegler S, Kurth I, Flöel A, Schroeder HWS, Felbor U, Rath M.

Front Neurol. 2019 Nov 20;10:1219. doi: 10.3389/fneur.2019.01219. eCollection 2019.

2.

Postzygotic mosaicism in cerebral cavernous malformation.

Rath M, Pagenstecher A, Hoischen A, Felbor U.

J Med Genet. 2019 Aug 24. pii: jmedgenet-2019-106182. doi: 10.1136/jmedgenet-2019-106182. [Epub ahead of print]

3.

CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics.

Hartmann K, Stein KP, Neyazi B, Felbor U, Hethey S, Sandalcioglu IE.

Neurosurg Rev. 2019 Sep;42(3):765-768. doi: 10.1007/s10143-019-01124-1. Epub 2019 Jun 6.

PMID:
31172378
4.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

5.

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.

Spiegler S, Rath M, Much CD, Sendtner BS, Felbor U.

Mol Genet Genomic Med. 2019 Jul;7(7):e00755. doi: 10.1002/mgg3.755. Epub 2019 May 23.

6.

Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations.

Pilz RA, Korenke GC, Steeb R, Strom TM, Felbor U, Rath M.

J Neurol Sci. 2019 Jun 15;401:34-36. doi: 10.1016/j.jns.2019.04.007. Epub 2019 Apr 8. No abstract available.

PMID:
31005762
7.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U.

Am J Med Genet A. 2019 Feb;179(2):295-299. doi: 10.1002/ajmg.a.60700. Epub 2018 Dec 17.

8.

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.

Schwefel K, Spiegler S, Ameling S, Much CD, Pilz RA, Otto O, Völker U, Felbor U, Rath M.

J Cell Mol Med. 2019 Mar;23(3):1771-1783. doi: 10.1111/jcmm.14075. Epub 2018 Dec 13.

9.

Diagnostic Single Gene Analyses Beyond Sanger.

Najm J, Rath M, Schröder W, Felbor U.

Hamostaseologie. 2018 Aug;38(3):158-165. doi: 10.5482/HAMO-17-01-0008. Epub 2018 Sep 27.

PMID:
30261521
10.

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Spiegler S, Rath M, Paperlein C, Felbor U.

Mol Syndromol. 2018 Feb;9(2):60-69. doi: 10.1159/000486292. Epub 2018 Jan 25. Review.

11.

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Spiegler S, Rath M, Hoffjan S, Dammann P, Sure U, Pagenstecher A, Strom T, Felbor U.

Neurogenetics. 2018 Jan;19(1):55-59. doi: 10.1007/s10048-017-0531-7. Epub 2017 Dec 2.

PMID:
29197946
12.

Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.

Rath M, Korenke GC, Najm J, Hoffmann GF, Hagendorff A, Strom TM, Felbor U.

J Neurol Sci. 2017 Aug 15;379:296-297. doi: 10.1016/j.jns.2017.06.034. Epub 2017 Jun 22. No abstract available.

PMID:
28716265
13.

Diagnostic single gene analyses beyond Sanger. Economic high-throughput sequencing of small genes involved in congenital coagulation and platelet disorders.

Najm J, Rath M, Schröder W, Felbor U.

Hamostaseologie. 2017 Jul 17;99(99). doi: 10.5482/HAMO-17-01-0008. [Epub ahead of print]

PMID:
28715041
14.

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 M, Jenssen SE, Schwefel K, Spiegler S, Kleimeier D, Sperling C, Kaderali L, Felbor U.

Eur J Med Genet. 2017 Sep;60(9):479-484. doi: 10.1016/j.ejmg.2017.06.007. Epub 2017 Jun 20.

PMID:
28645800
15.

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Rath M, Spiegler S, Nath N, Schwefel K, Di Donato N, Gerber J, Korenke GC, Hellenbroich Y, Hehr U, Gross S, Sure U, Zoll B, Gilberg E, Kaderali L, Felbor U.

Mol Genet Genomic Med. 2016 Dec 20;5(1):21-27. doi: 10.1002/mgg3.256. eCollection 2017 Jan.

16.

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U.

Mol Syndromol. 2016 Jul;7(3):144-52. doi: 10.1159/000446884. Epub 2016 Jun 18.

17.

Propranolol stops progressive multiple cerebral cavernoma in an adult patient.

Reinhard M, Schuchardt F, Meckel S, Heinz J, Felbor U, Sure U, Geisen U.

J Neurol Sci. 2016 Aug 15;367:15-7. doi: 10.1016/j.jns.2016.04.053. Epub 2016 May 6.

PMID:
27423555
18.

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

Reinhard M, Schuchardt F, Meckel S, Heinz J, Felbor U, Sure U, Geisen U.

J Neurol Sci. 2016 Oct 15;369:392. doi: 10.1016/j.jns.2016.06.057. Epub 2016 Jun 28. No abstract available.

PMID:
27393041
19.

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW.

PLoS Genet. 2016 May 11;12(5):e1006022. doi: 10.1371/journal.pgen.1006022. eCollection 2016 May.

20.

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 P, Wrede K, Zhu Y, Matsushige T, Maderwald S, Umutlu L, Quick HH, Hehr U, Rath M, Ladd ME, Felbor U, Sure U.

J Neurosurg. 2017 Feb;126(2):570-577. doi: 10.3171/2016.2.JNS152322. Epub 2016 May 6.

PMID:
27153162
21.

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.

Rath M, Najm J, Sirb H, Kentouche K, Dufke A, Pauli S, Hackmann K, Liehr T, Hübner CA, Felbor U; Kompetenznetzwerk Hämorrhagische Diathesen Ost (KHDO).

Hamostaseologie. 2015;35 Suppl 1:S36-42.

PMID:
26540129
22.

Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene.

Stächele J, Bakchoul T, Najm J, Felbor U, Knöfler R.

Hamostaseologie. 2015;35 Suppl 1:S18-21.

PMID:
26540125
23.

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

von Podewils F, Kowoll V, Schroeder W, Geithner J, Wang ZI, Gaida B, Bombach P, Kessler C, Felbor U, Runge U.

Epilepsy Behav. 2015 Mar;44:61-6. doi: 10.1016/j.yebeh.2014.12.016. Epub 2015 Jan 24.

PMID:
25625532
24.

Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteins.

Renz M, Otten C, Faurobert E, Rudolph F, Zhu Y, Boulday G, Duchene J, Mickoleit M, Dietrich AC, Ramspacher C, Steed E, Manet-Dupé S, Benz A, Hassel D, Vermot J, Huisken J, Tournier-Lasserve E, Felbor U, Sure U, Albiges-Rizo C, Abdelilah-Seyfried S.

Dev Cell. 2015 Jan 26;32(2):181-90. doi: 10.1016/j.devcel.2014.12.016.

25.

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 AG, Sure U, Zschocke J, Felbor U.

Clin Neurol Neurosurg. 2015 Jan;128:41-3. doi: 10.1016/j.clineuro.2014.10.023. Epub 2014 Nov 6. No abstract available.

PMID:
25462093
26.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.

Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.

27.

Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.

Schröder W, Najm J, Spiegler S, Mair M, Viera J, Henn W, Felbor U.

Neurosurg Rev. 2014 Jan;37(1):161-5. doi: 10.1007/s10143-013-0478-6. Epub 2013 May 31.

PMID:
23722637
28.

[Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia].

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

Internist (Berl). 2013 Jun;54(6):765-8. doi: 10.1007/s00108-013-3284-x. German.

PMID:
23677566
29.

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

Ten Kate LP, Rath M, Felbor U, Frints SM.

Eur J Med Genet. 2013 May;56(5):243-4. doi: 10.1016/j.ejmg.2013.02.007. Epub 2013 Mar 5.

PMID:
23470695
30.

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

You C, Sandalcioglu IE, Dammann P, Felbor U, Sure U, Zhu Y.

J Cell Mol Med. 2013 Mar;17(3):407-18. doi: 10.1111/jcmm.12022. Epub 2013 Feb 7.

31.

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

Tan CW, Najm J, Morel-Kopp MC, Teo J, Chen Q, Felbor U, Ward CM.

Haemophilia. 2012 Mar;18(2):e55-8. doi: 10.1111/j.1365-2516.2011.02707.x. Epub 2011 Nov 30. No abstract available.

PMID:
22126652
32.

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

Schleider E, Stahl S, Wüstehube J, Walter U, Fischer A, Felbor U.

Neurogenetics. 2011 Feb;12(1):83-6. doi: 10.1007/s10048-010-0261-6. Epub 2010 Sep 23.

33.

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Söhn AS, Glöckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O, Bauer P, Müller U, Grundmann K.

Mov Disord. 2010 Sep 15;25(12):1982-6. doi: 10.1002/mds.23207.

PMID:
20669277
34.

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

Wüstehube J, Bartol A, Liebler SS, Brütsch R, Zhu Y, Felbor U, Sure U, Augustin HG, Fischer A.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12640-5. doi: 10.1073/pnas.1000132107. Epub 2010 Jun 24.

35.

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.

Voss K, Stahl S, Hogan BM, Reinders J, Schleider E, Schulte-Merker S, Felbor U.

Hum Mutat. 2009 Jun;30(6):1003-11. doi: 10.1002/humu.20996.

PMID:
19370760
36.

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.

Hum Mol Genet. 2009 Mar 1;18(5):911-8. doi: 10.1093/hmg/ddn420. Epub 2008 Dec 16.

37.

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U.

Hum Mutat. 2008 May;29(5):709-17. doi: 10.1002/humu.20712.

PMID:
18300272
38.

[Genetics of cerebral cavernous malformations (CCM)].

Felbor U.

Dtsch Med Wochenschr. 2007 Sep;132(38):1967-70. Review. German. No abstract available.

PMID:
17853352
39.

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

Stahl S, Reinders Y, Asan E, Mothes W, Conzelmann E, Sickmann A, Felbor U.

Biochim Biophys Acta. 2007 Oct;1774(10):1237-46. Epub 2007 Jul 19.

PMID:
17765022
40.

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.

Voss K, Stahl S, Schleider E, Ullrich S, Nickel J, Mueller TD, Felbor U.

Neurogenetics. 2007 Nov;8(4):249-56. Epub 2007 Jul 27.

PMID:
17657516
41.

Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

Felbor U, Gaetzner S, Verlaan DJ, Vijzelaar R, Rouleau GA, Siegel AM.

Neurogenetics. 2007 Apr;8(2):149-53. Epub 2007 Jan 9.

PMID:
17211633
42.

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

Gaetzner S, Stahl S, Sürücü O, Schaafhausen A, Halliger-Keller B, Bertalanffy H, Sure U, Felbor U.

Neurosurg Rev. 2007 Apr;30(2):155-9; discussion 159-60. Epub 2006 Dec 23.

PMID:
17187287
43.

Clinical impact of CCM mutation detection in familial cavernous angioma.

Sürücü O, Sure U, Gaetzner S, Stahl S, Benes L, Bertalanffy H, Felbor U.

Childs Nerv Syst. 2006 Nov;22(11):1461-4. Epub 2006 Sep 16.

PMID:
16983571
44.

Genetics of cerebral cavernous angioma.

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

Zentralbl Neurochir. 2006 Aug;67(3):110-6. Review.

PMID:
16958007
45.

Controversial molecular classification of human cerebrovascular malformations.

Stahl S, Felbor U.

Stroke. 2006 Sep;37(9):2214; author reply 2215-6. Epub 2006 Aug 3. No abstract available.

PMID:
16888261
47.

Endostatin phenylalanines 31 and 34 define a receptor binding site.

Stahl S, Gaetzner S, Mueller TD, Felbor U.

Genes Cells. 2005 Sep;10(9):929-39.

48.

Endosomal proteolysis of the Ebola virus glycoprotein is necessary for infection.

Chandran K, Sullivan NJ, Felbor U, Whelan SP, Cunningham JM.

Science. 2005 Jun 10;308(5728):1643-5. Epub 2005 Apr 14.

49.

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

Gaetzner S, Deckers MM, Stahl S, Löwik C, Olsen BR, Felbor U.

Matrix Biol. 2005 Jan;23(8):557-61. Epub 2004 Nov 19.

PMID:
15694132
50.

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

Rychkova N, Stahl S, Gaetzner S, Felbor U.

Dev Dyn. 2005 Feb;232(2):399-407.

Supplemental Content

Loading ...
Support Center