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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H. Köllges R, et al. Among authors: thiele h. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepańska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnyś P, Grote P, Odermatt B, Reutter HM, Dworschak GC. Kolvenbach CM, et al. Among authors: thiele h. J Med Genet. 2023 Jun;60(6):587-596. doi: 10.1136/jmg-2022-108738. Epub 2022 Nov 15. J Med Genet. 2023. PMID: 36379543 Free PMC article.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: thiele h. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. von Brauchitsch S, et al. Among authors: thiele h. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. Epilepsia Open. 2023. PMID: 36896643 Free PMC article.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: thiele h. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: thiele h. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Incidence and predictors of weaning failure from veno-arterial extracorporeal membrane oxygenation therapy in patients with cardiogenic shock.
Dettling A, Kellner C, Sundermeyer J, Beer BN, Besch L, Bertoldi LF, Blankenberg S, Dauw J, Eckner D, Eitel I, Graf T, Horn P, Jozwiak-Nozdrzykowska J, Kirchhof P, Kluge S, Krais J, von Lewinski D, Linke A, Luedike P, Lüsebrink E, Nordbeck P, Pappalardo F, Pauschinger M, Proudfoot A, Rassaf T, Reichenspurner H, Sag CM, Scherer C, Schulze PC, Schwinger RHG, Skurk C, Sramko M, Tavazzi G, Thiele H, Morici N, Winzer EB, Westermann D, Schrage B, Mangner N. Dettling A, et al. Among authors: thiele h. Eur J Heart Fail. 2025 Jan 17. doi: 10.1002/ejhf.3583. Online ahead of print. Eur J Heart Fail. 2025. PMID: 39823252
Identifying biomarker-driven subphenotypes of cardiogenic shock: analysis of prospective cohorts and randomized controlled trials.
Soussi S, Tarvasmäki T, Kimmoun A, Ahmadiankalati M, Azibani F, Dos Santos CC, Duarte K, Gayat E, Jentzer JC, Harjola VP, Hibbert B, Jung C, Johan L, Levy B, Lu Z, Lawler PR, Marshall JC, Pöss J, Sadoune M, Nguyen A, Raynor A, Peoc'h K, Thiele H, Mathew R, Mebazaa A. Soussi S, et al. Among authors: thiele h. EClinicalMedicine. 2024 Dec 18;79:103013. doi: 10.1016/j.eclinm.2024.103013. eCollection 2025 Jan. EClinicalMedicine. 2024. PMID: 39802301 Free PMC article.
[Management of acute coronary syndrome].
Buske M, Feistritzer HJ, Jobs A, Thiele H. Buske M, et al. Among authors: thiele h. Herz. 2025 Jan 10. doi: 10.1007/s00059-024-05284-9. Online ahead of print. Herz. 2025. PMID: 39792316 German.
1,715 results