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NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Among authors: giessl a. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT. Kessler K, et al. Among authors: giessl a. Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649. Sci Rep. 2015. PMID: 26130459 Free PMC article.
Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
Falk N, Kessler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, Noegel AA, Ueffing M, Thiel CT, Roepman R, Brandstätter JH, Gießl A. Falk N, et al. Among authors: giessl a. J Cell Sci. 2018 Aug 17;131(16):jcs218487. doi: 10.1242/jcs.218487. J Cell Sci. 2018. PMID: 30054381
Lack of a Retinal Phenotype in a Syne-2/Nesprin-2 Knockout Mouse Model.
Falk N, Joachimsthaler A, Kessler K, Lux UT, Noegel AA, Kremers J, Brandstätter JH, Gießl A, Falk N, Joachimsthaler A, Kessler K, Lux UT, Noegel AA, Kremers J, Brandstätter JH, Gießl A. Falk N, et al. Among authors: giessl a. Cells. 2019 Oct 11;8(10):1238. doi: 10.3390/cells8101238. Cells. 2019. PMID: 31614616 Free PMC article.
Regulatory eosinophils induce the resolution of experimental arthritis and appear in remission state of human rheumatoid arthritis.
Andreev D, Liu M, Kachler K, Llerins Perez M, Kirchner P, Kölle J, Gießl A, Rauber S, Song R, Aust O, Grüneboom A, Kleyer A, Cañete JD, Ekici A, Ramming A, Finotto S, Schett G, Bozec A. Andreev D, et al. Among authors: giessl a. Ann Rheum Dis. 2021 Apr;80(4):451-468. doi: 10.1136/annrheumdis-2020-218902. Epub 2020 Nov 4. Ann Rheum Dis. 2021. PMID: 33148700
Light-dependent regulation of neurotransmitter release from rod photoreceptor ribbon synapses involves an interplay of Complexin 4 and Transducin with the SNARE complex.
Lux UT, Meyer J, Jahn O, Davison A, Babai N, Gießl A, Wartenberg A, Sticht H, Brose N, Reim K, Brandstätter JH. Lux UT, et al. Among authors: giessl a. Front Mol Neurosci. 2024 Feb 28;17:1308466. doi: 10.3389/fnmol.2024.1308466. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38481472 Free PMC article.
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.
Genetics of Exfoliation Syndrome Partnership; Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim … See abstract for full author list ➔ Genetics of Exfoliation Syndrome Partnership, et al. Among authors: giessl a. JAMA. 2021 Feb 23;325(8):753-764. doi: 10.1001/jama.2021.0507. JAMA. 2021. PMID: 33620406 Free PMC article.
61 results