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Items: 1 to 20 of 80

1.

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.

Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, Werker PM, Tinschert S, Franke A, Gieger C, Strauch K, Nothnagel M, Nürnberg P, Hennies HC; German Dupuytren Study Group.

PLoS One. 2016 Jul 28;11(7):e0158101. doi: 10.1371/journal.pone.0158101. eCollection 2016.

2.

Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients.

van Vught LA, Scicluna BP, Wiewel MA, Hoogendijk AJ, Klein Klouwenberg PM, Franitza M, Toliat MR, Nürnberg P, Cremer OL, Horn J, Schultz MJ, Bonten MM, van der Poll T.

Am J Respir Crit Care Med. 2016 Jun 6. [Epub ahead of print]

PMID:
27267747
3.

Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample.

Mobascher A, Diaz-Lacava A, Wagner M, Gallinat J, Wienker TF, Drichel D, Becker T, Steffens M, Dahmen N, Gründer G, Thürauf N, Kiefer F, Kornhuber J, Toliat MR, Thiele H, Nürnberg P, Steinlein O, Winterer G.

PLoS One. 2016 Apr 7;11(4):e0152984. doi: 10.1371/journal.pone.0152984. eCollection 2016.

4.

Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients.

Claushuis TA, van Vught LA, Scicluna BP, Wiewel MA, Klein Klouwenberg PM, Hoogendijk AJ, Ong DS, Cremer OL, Horn J, Franitza M, Toliat MR, Nürnberg P, Zwinderman AH, Bonten MJ, Schultz MJ, van der Poll T; Molecular Diagnosis and Risk Stratification of Sepsis Consortium.

Blood. 2016 Jun 16;127(24):3062-72. doi: 10.1182/blood-2015-11-680744. Epub 2016 Mar 8.

PMID:
26956172
5.

The Impact of HIV Co-Infection on the Genomic Response to Sepsis.

Huson MA, Scicluna BP, van Vught LA, Wiewel MA, Hoogendijk AJ, Cremer OL, Bonten MJ, Schultz MJ, Franitza M, Toliat MR, Nürnberg P, Grobusch MP, van der Poll T.

PLoS One. 2016 Feb 12;11(2):e0148955. doi: 10.1371/journal.pone.0148955. eCollection 2016.

6.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M.

PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016.

7.

Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNP.

Vogt J, Yang JW, Mobascher A, Cheng J, Li Y, Liu X, Baumgart J, Thalman C, Kirischuk S, Unichenko P, Horta G, Radyushkin K, Stroh A, Richers S, Sahragard N, Distler U, Tenzer S, Qiao L, Lieb K, Tüscher O, Binder H, Ferreiros N, Tegeder I, Morris AJ, Gropa S, Nürnberg P, Toliat MR, Winterer G, Luhmann HJ, Huai J, Nitsch R.

EMBO Mol Med. 2015 Dec 15;8(1):25-38. doi: 10.15252/emmm.201505677.

8.

Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample.

Bey K, Lennertz L, Markett S, Petrovsky N, Gallinat J, Gründer G, Spreckelmeyer KN, Wienker TF, Mobascher A, Dahmen N, Thuerauf N, Kornhuber J, Kiefer F, Toliat MR, Nürnberg P, Winterer G, Wagner M.

Eur Neuropsychopharmacol. 2016 Jan;26(1):150-5. doi: 10.1016/j.euroneuro.2015.11.007. Epub 2015 Nov 14.

PMID:
26612384
9.

ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.

Buyandelger B, Mansfield C, Kostin S, Choi O, Roberts AM, Ware JS, Mazzarotto F, Pesce F, Buchan R, Isaacson RL, Vouffo J, Gunkel S, Knöll G, McSweeney SJ, Wei H, Perrot A, Pfeiffer C, Toliat MR, Ilieva K, Krysztofinska E, López-Olañeta MM, Gómez-Salinero JM, Schmidt A, Ng KE, Teucher N, Chen J, Teichmann M, Eilers M, Haverkamp W, Regitz-Zagrosek V, Hasenfuss G, Braun T, Pennell DJ, Gould I, Barton PJ, Lara-Pezzi E, Schäfer S, Hübner N, Felkin LE, O'Regan DP, Brand T, Milting H, Nürnberg P, Schneider MD, Prasad S, Petretto E, Knöll R.

Circ Cardiovasc Genet. 2015 Oct;8(5):643-52. doi: 10.1161/CIRCGENETICS.113.000690. Epub 2015 Jul 14.

PMID:
26175529
10.

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG.

Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15.

PMID:
26174448
11.

A molecular biomarker to diagnose community-acquired pneumonia on intensive care unit admission.

Scicluna BP, Klein Klouwenberg PM, van Vught LA, Wiewel MA, Ong DS, Zwinderman AH, Franitza M, Toliat MR, Nürnberg P, Hoogendijk AJ, Horn J, Cremer OL, Schultz MJ, Bonten MJ, van der Poll T.

Am J Respir Crit Care Med. 2015 Oct 1;192(7):826-35. doi: 10.1164/rccm.201502-0355OC.

PMID:
26121490
12.

Erratum: Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.

Hossini AM, Megges M, Prigione A, Lichtner B, Toliat MR, Wruck W, Schröter F, Nuernberg P, Kroll H, Makrantonaki E, Zouboulis CC, Adjaye J.

BMC Genomics. 2015 Jun 6;16:433. doi: 10.1186/s12864-015-1537-x. No abstract available.

13.

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I.

Hum Genet. 2015 Jul;134(7):691-704. doi: 10.1007/s00439-015-1549-2. Epub 2015 Apr 19.

PMID:
25893793
14.

Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.

Hossini AM, Megges M, Prigione A, Lichtner B, Toliat MR, Wruck W, Schröter F, Nuernberg P, Kroll H, Makrantonaki E, Zouboulis CC, Adjaye J.

BMC Genomics. 2015 Feb 14;16:84. doi: 10.1186/s12864-015-1262-5. Erratum in: BMC Genomics. 2015;16:433. Zoubouliss, Christos C [corrected to Zouboulis, Christos C].

15.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841
16.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.

Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.

17.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.

Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.

PMID:
25362483
18.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.

Nat Genet. 2014 Dec;46(12):1283-92. doi: 10.1038/ng.3122. Epub 2014 Oct 26.

19.

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.

Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.

20.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F.

Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3.

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