Thiele H - Search Results

1

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Stankiewicz P, et al. Among authors: thiele h. Am J Med Genet A. 2005 Sep 15;138(1):11-7. doi: 10.1002/ajmg.a.30910. Am J Med Genet A. 2005. PMID: 16097007

2

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

Stankiewicz P, Thiele H, Baldermann C, Krüger A, Giannakudis I, Dörr S, Werner N, Kunz J, Rappold GA, Hansmann I. Stankiewicz P, et al. Among authors: thiele h. Am J Med Genet. 2001 Sep 15;103(1):56-62. doi: 10.1002/ajmg.1512. Am J Med Genet. 2001. PMID: 11562935 Review.

3

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.

Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Krüger A, Dörr S, Starke H, Hansmann I. Stankiewicz P, et al. Among authors: thiele h. Am J Med Genet. 2001 Aug 15;102(3):286-92. doi: 10.1002/ajmg.1462. Am J Med Genet. 2001. PMID: 11484209

4

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

5

Familial arhinia, choanal atresia, and microphthalmia.

Thiele H, Musil A, Nagel F, Majewski F. Thiele H, et al. Am J Med Genet. 1996 May 3;63(1):310-3. doi: 10.1002/(SICI)1096-8628(19960503)63:1<310::AID-AJMG51>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723126 Review.

6

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.

7

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.

8

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.

9

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

10

Effect of Valve Type and Anesthesia Strategy for TAVR: 5-Year Results of the SOLVE-TAVI Trial.

Feistritzer HJ, Kurz T, Vonthein R, Schröder L, Stachel G, Eitel I, Marquetand C, Saraei R, Kirchhof E, Heringlake M, Abdel-Wahab M, Desch S, Thiele H; SOLVE-TAVI Investigators. Feistritzer HJ, et al. Among authors: thiele h. J Am Coll Cardiol. 2024 Oct 21:S0735-1097(24)08456-0. doi: 10.1016/j.jacc.2024.09.007. Online ahead of print. J Am Coll Cardiol. 2024. PMID: 39503651

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