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Items: 44

1.

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q 12 microdeletion syndrome?

Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B.

Prenat Diagn. 2019 Sep 9. doi: 10.1002/pd.5556. [Epub ahead of print]

PMID:
31498910
2.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L.

Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17.

PMID:
31090057
3.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.

Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Review.

4.

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B.

Am J Med Genet A. 2019 Jan;179(1):50-56. doi: 10.1002/ajmg.a.60679. Epub 2018 Dec 11.

PMID:
30548383
5.

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Plötz S, Farrell M, Trautmann U, Kraus C, Ekici AB, Asadollahi R, Regensburger M, Günther K, Rauch A, Edenhofer F, Winkler J, Winner B, Reis A.

Sci Rep. 2018 Nov 21;8(1):17201. doi: 10.1038/s41598-018-35506-0.

6.

α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies.

Prots I, Grosch J, Brazdis RM, Simmnacher K, Veber V, Havlicek S, Hannappel C, Krach F, Krumbiegel M, Schütz O, Reis A, Wrasidlo W, Galasko DR, Groemer TW, Masliah E, Schlötzer-Schrehardt U, Xiang W, Winkler J, Winner B.

Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7813-7818. doi: 10.1073/pnas.1713129115. Epub 2018 Jul 10.

7.

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

Reuter MS, Krumbiegel M, Schlüter G, Ekici AB, Reis A, Zweier C.

Am J Med Genet A. 2017 Aug;173(8):2231-2234. doi: 10.1002/ajmg.a.38288. Epub 2017 May 24.

PMID:
28544326
8.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R.

JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.

PMID:
28097321
9.

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A.

Int J Cancer. 2017 Jan 1;140(1):95-102. doi: 10.1002/ijc.30428. Epub 2016 Sep 23.

10.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study, Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C.

J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29.

PMID:
27572252
11.

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Shahwan SA, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team; Wellcome Trust Case Control Consortium 2, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC.

Nat Genet. 2015 Jun;47(6):689. doi: 10.1038/ng0615-689c. No abstract available.

PMID:
26018902
12.

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Al Shahwan S, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team; Wellcome Trust Case Control Consortium 2, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC.

Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Epub 2015 Feb 23. Erratum in: Nat Genet. 2015 Jun;47(6):689.

13.

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

Kraus C, Rau TT, Lux P, Erlenbach-Wünsch K, Löhr S, Krumbiegel M, Thiel CT, Stöhr R, Agaimy A, Croner RS, Stürzl M, Hohenberger W, Hartmann A, Reis A.

Int J Cancer. 2015 Mar 15;136(6):E559-68. doi: 10.1002/ijc.29149. Epub 2014 Aug 30.

14.

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C.

Am J Med Genet A. 2012 Jul;158A(7):1765-70. doi: 10.1002/ajmg.a.35427. Epub 2012 Jun 7.

PMID:
22678764
15.

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.

Uebe S, Pasutto F, Krumbiegel M, Schanze D, Ekici AB, Reis A.

BMC Bioinformatics. 2010 Sep 21;11:472. doi: 10.1186/1471-2105-11-472.

16.

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A.

Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1.

17.

Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A.

J Glaucoma. 2010 Oct-Nov;19(8):561-5. doi: 10.1097/IJG.0b013e3181ca76c4.

PMID:
20543710
18.

Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. doi: 10.1167/iovs.08-2339. Epub 2009 Jan 31.

PMID:
19182256
19.

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

Pasutto F, Krumbiegel M, Mardin CY, Paoli D, Lämmer R, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1459-63. doi: 10.1167/iovs.07-1449.

PMID:
18385063
20.

LSECtin interacts with filovirus glycoproteins and the spike protein of SARS coronavirus.

Gramberg T, Hofmann H, Möller P, Lalor PF, Marzi A, Geier M, Krumbiegel M, Winkler T, Kirchhoff F, Adams DH, Becker S, Münch J, Pöhlmann S.

Virology. 2005 Sep 30;340(2):224-36.

21.

DC-SIGN and DC-SIGNR interact with the glycoprotein of Marburg virus and the S protein of severe acute respiratory syndrome coronavirus.

Marzi A, Gramberg T, Simmons G, Möller P, Rennekamp AJ, Krumbiegel M, Geier M, Eisemann J, Turza N, Saunier B, Steinkasserer A, Becker S, Bates P, Hofmann H, Pöhlmann S.

J Virol. 2004 Nov;78(21):12090-5.

22.

Susceptibility to SARS coronavirus S protein-driven infection correlates with expression of angiotensin converting enzyme 2 and infection can be blocked by soluble receptor.

Hofmann H, Geier M, Marzi A, Krumbiegel M, Peipp M, Fey GH, Gramberg T, Pöhlmann S.

Biochem Biophys Res Commun. 2004 Jul 9;319(4):1216-21.

PMID:
15194496
23.

S protein of severe acute respiratory syndrome-associated coronavirus mediates entry into hepatoma cell lines and is targeted by neutralizing antibodies in infected patients.

Hofmann H, Hattermann K, Marzi A, Gramberg T, Geier M, Krumbiegel M, Kuate S, Uberla K, Niedrig M, Pöhlmann S.

J Virol. 2004 Jun;78(12):6134-42.

24.

Amino acid 324 in the simian immunodeficiency virus SIVmac V3 loop can confer CD4 independence and modulate the interaction with CCR5 and alternative coreceptors.

Pöhlmann S, Davis C, Meister S, Leslie GJ, Otto C, Reeves JD, Puffer BA, Papkalla A, Krumbiegel M, Marzi A, Lorenz S, Münch J, Doms RW, Kirchhoff F.

J Virol. 2004 Apr;78(7):3223-32.

25.

Acid-induced changes in thermal stability and fusion activity of influenza hemagglutinin.

Remeta DP, Krumbiegel M, Minetti CA, Puri A, Ginsburg A, Blumenthal R.

Biochemistry. 2002 Feb 12;41(6):2044-54.

PMID:
11827552
27.

Modulation of different human immunodeficiency virus type 1 Nef functions during progression to AIDS.

Carl S, Greenough TC, Krumbiegel M, Greenberg M, Skowronski J, Sullivan JL, Kirchhoff F.

J Virol. 2001 Apr;75(8):3657-65.

28.

Simian immunodeficiency virus utilizes human and sooty mangabey but not rhesus macaque STRL33 for efficient entry.

Pöhlmann S, Lee B, Meister S, Krumbiegel M, Leslie G, Doms RW, Kirchhoff F.

J Virol. 2000 Jun;74(11):5075-82.

29.

Coreceptor usage of BOB/GPR15 and Bonzo/STRL33 by primary isolates of human immunodeficiency virus type 1.

Pöhlmann S, Krumbiegel M, Kirchhoff F.

J Gen Virol. 1999 May;80 ( Pt 5):1241-51.

PMID:
10355771
30.

Transient changes of the conformation of hemagglutinin of influenza virus at low pH detected by time-resolved circular dichroism spectroscopy.

Korte T, Ludwig K, Krumbiegel M, Zirwer D, Damaschun G, Herrmann A.

J Biol Chem. 1997 Apr 11;272(15):9764-70.

31.

Assessment of fusogenic properties of influenza virus hemagglutinin deacylated by site-directed mutagenesis and hydroxylamine treatment.

Philipp HC, Schroth B, Veit M, Krumbiegel M, Herrmann A, Schmidt MF.

Virology. 1995 Jun 20;210(1):20-8.

32.

Transient domains induced by influenza haemagglutinin during membrane fusion.

Blumenthal R, Pak CC, Raviv Y, Krumbiegel M, Bergelson LD, Morris SJ, Lowy RJ.

Mol Membr Biol. 1995 Jan-Mar;12(1):135-42.

PMID:
7767373
33.

Characterization of dimyristoylphosphatidylcholine liposome aggregates induced by dextran sulfate and La(3+) by fluorescence spectroscopy.

Zschörnig O, Richter W, Krumbiegel M, Arnold K.

J Fluoresc. 1994 Dec;4(4):373-5. doi: 10.1007/BF01881461.

PMID:
24233620
34.
35.
36.

Intermediates in influenza virus PR/8 haemagglutinin-induced membrane fusion.

Pak CC, Krumbiegel M, Blumenthal R.

J Gen Virol. 1994 Feb;75 ( Pt 2):395-9.

PMID:
8113761
39.

Dextran sulfate inhibits fusion of influenza virus and cells expressing influenza hemagglutinin with red blood cells.

Krumbiegel M, Dimitrov DS, Puri A, Blumenthal R.

Biochim Biophys Acta. 1992 Oct 5;1110(2):158-64.

PMID:
1390844
40.

Modification of low density lipoproteins by sodium hypochlorite.

Arnhold J, Wiegel D, Richter O, Hammerschmidt S, Arnold K, Krumbiegel M.

Biomed Biochim Acta. 1991;50(8):967-73.

PMID:
1723592
41.

Interaction of dextran sulfate with phospholipid surfaces and liposome aggregation and fusion.

Arnold K, Ohki S, Krumbiegel M.

Chem Phys Lipids. 1990 Sep;55(3):301-7.

PMID:
2289288
42.
43.

Characterization of chemical modifications of surface properties of low density lipoproteins.

Arnold K, Arnhold J, Zschörnig O, Wiegel D, Krumbiegel M.

Biomed Biochim Acta. 1989;48(10):735-42.

PMID:
2483939
44.

Interaction of glycosaminoglycans with low density lipoproteins and liposomes detected by alteractions of surface potential.

Krumbiegel M, Zschoernig O, Arnold K, Panasenka O, Volnova T, Azizova OA, Deev AI, Herrmann K.

Chem Phys Lipids. 1988 Sep;48(1-2):83-9. No abstract available.

PMID:
2856801

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