Thiele H - Search Results

1

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S. Pfister M, et al. Among authors: thiele h. Mol Med. 2002 Oct;8(10):607-11. Mol Med. 2002. PMID: 12477971 Free PMC article.

2

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: thiele h. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

3

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: thiele h. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.

4

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.

Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Thiele H, et al. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60. doi: 10.1073/pnas.0400334101. Epub 2004 Jun 23. Proc Natl Acad Sci U S A. 2004. PMID: 15215498 Free PMC article.

5

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.

Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nürnberg P, Ozkarakas H, Kupka S. Pfister M, et al. Among authors: thiele h. Cell Physiol Biochem. 2004;14(4-6):369-76. doi: 10.1159/000080347. Cell Physiol Biochem. 2004. PMID: 15319541

6

HaploPainter: a tool for drawing pedigrees with complex haplotypes.

Thiele H, Nürnberg P. Thiele H, et al. Bioinformatics. 2005 Apr 15;21(8):1730-2. doi: 10.1093/bioinformatics/bth488. Epub 2004 Sep 17. Bioinformatics. 2005. PMID: 15377505

7

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S. Jenne DE, et al. Among authors: thiele h. Biol Chem. 2005 Jan;386(1):61-7. doi: 10.1515/BC.2005.008. Biol Chem. 2005. PMID: 15843148

8

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.

Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. Netzer C, et al. Among authors: thiele h. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41. doi: 10.1002/ajmg.b.30560. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17680603

9

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F. Thiele H, et al. Hum Mutat. 2010 Nov;31(11):E1836-50. doi: 10.1002/humu.21357. Hum Mutat. 2010. PMID: 20842748 Free PMC article.

10

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: thiele h. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.

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