Wachtler FJ - Search Results

1

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: wachtler fj. Laryngoscope. 2005 Mar;115(3):461-5. doi: 10.1097/01.mlg.0000157855.47143.71. Laryngoscope. 2005. PMID: 15744158

2

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.

Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, Baumgartner WD, Raap AK, Bittner R, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: wachtler fj. Eur J Hum Genet. 2002 Jul;10(7):427-32. doi: 10.1038/sj.ejhg.5200826. Eur J Hum Genet. 2002. PMID: 12107817

3

A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.

Frei K, Lucas T, Ramsebner R, Schöfer C, Baumgartner WD, Weipoltshammer K, Erginel-Unaltuna N, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: wachtler fj. Audiol Neurootol. 2004 Jan-Feb;9(1):47-50. doi: 10.1159/000074186. Audiol Neurootol. 2004. PMID: 14676473

4

Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.

Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner WD, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: wachtler fj. Hear Res. 2004 Aug;194(1-2):81-6. doi: 10.1016/j.heares.2004.03.007. Hear Res. 2004. PMID: 15276679

5

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.

Frei K, Ramsebner R, Lucas T, Baumgartner WD, Schoefer C, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: wachtler fj. Hear Res. 2004 Oct;196(1-2):115-8. doi: 10.1016/j.heares.2004.07.001. Hear Res. 2004. PMID: 15464308

6

High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.

Ramsebner R, Volker R, Lucas T, Hamader G, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K, Frei K. Ramsebner R, et al. Among authors: wachtler fj. Ear Hear. 2007 Jun;28(3):298-301. doi: 10.1097/AUD.0b013e318047932d. Ear Hear. 2007. PMID: 17485979

7

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.

Ramsebner R, Lucas T, Schoefer C, Ludwig M, Baumgartner WD, Wachtler FJ, Kirschhofer K, Frei K. Ramsebner R, et al. Among authors: wachtler fj. Otol Neurotol. 2007 Oct;28(7):884-6. Otol Neurotol. 2007. PMID: 17955603

8

Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria.

Ramsebner R, Lucas T, Schoefer C, Ludwig M, Baumgartner WD, Wachtler FJ, Kirschhofer K, Frei K. Ramsebner R, et al. Among authors: wachtler fj. Otol Neurotol. 2007 Oct;28(7):884-886. doi: 10.1097/MAO.0b013e3181461b26. Otol Neurotol. 2007. PMID: 17704703

9

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ. Kirschhofer K, et al. Cytogenet Cell Genet. 1998;82(1-2):126-30. doi: 10.1159/000015086. Cytogenet Cell Genet. 1998. PMID: 9763681

10

The apical ectodermal ridge, fibroblast growth factors (FGF-2 and FGF-4) and insulin-like growth factor I (IGF-I) control the migration of epidermal melanoblasts in chicken wing buds.

Schöfer C, Frei K, Weipoltshammer K, Wachtler F. Schöfer C, et al. Anat Embryol (Berl). 2001 Feb;203(2):137-46. doi: 10.1007/s004290000148. Anat Embryol (Berl). 2001. PMID: 11218060

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