Thiele H - Search Results

1

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K. Shelbourne P, et al. Among authors: thiele h. Hum Mol Genet. 1992 Oct;1(7):467-73. doi: 10.1093/hmg/1.7.467. Hum Mol Genet. 1992. PMID: 1307246

2

Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Meiner A, Wolf C, Carey N, Okitsu A, Johnson K, Shelbourne P, Kunath B, Sauermann W, Thiele H, Kupferling P, et al. Meiner A, et al. Among authors: thiele h. J Med Genet. 1995 Aug;32(8):645-9. doi: 10.1136/jmg.32.8.645. J Med Genet. 1995. PMID: 7473660 Free PMC article.

3

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G. Schmitt-Ney M, et al. Among authors: thiele h. Am J Hum Genet. 1995 Apr;56(4):862-9. Am J Hum Genet. 1995. PMID: 7717397 Free PMC article.

4

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.

Lenk U, Hanke R, Thiele H, Speer A. Lenk U, et al. Among authors: thiele h. Hum Mol Genet. 1993 Nov;2(11):1877-81. doi: 10.1093/hmg/2.11.1877. Hum Mol Genet. 1993. PMID: 8281150

5

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B. Gillessen-Kaesbach G, et al. Among authors: thiele h. Eur J Hum Genet. 1999 Sep;7(6):638-44. doi: 10.1038/sj.ejhg.5200362. Eur J Hum Genet. 1999. PMID: 10482951

6

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P. Wieland I, et al. Among authors: thiele h. Am J Hum Genet. 2004 Jun;74(6):1209-15. doi: 10.1086/421532. Epub 2004 Apr 29. Am J Hum Genet. 2004. PMID: 15124102 Free PMC article.

7

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: thiele h. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

8

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

9

Mechanical circulatory support for patients with infarct-related cardiogenic shock: a state-of-the-art review.

Moller JE, Thiele H, Zeymer U, Proudfoot A, Hassager C. Moller JE, et al. Among authors: thiele h. Heart. 2025 Jan 16:heartjnl-2024-324883. doi: 10.1136/heartjnl-2024-324883. Online ahead of print. Heart. 2025. PMID: 39819613 Review.

10

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.

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