Thiele H - Search Results

1

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

2

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

3

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.

4

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

5

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.

6

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.

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

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

9

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

10

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.

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