Günther B - Search Results

1

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F. Saisawat P, et al. Among authors: gunther b. Kidney Int. 2012 Jan;81(2):196-200. doi: 10.1038/ki.2011.315. Epub 2011 Sep 7. Kidney Int. 2012. PMID: 21900877 Free PMC article.

2

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D. Haberlandt E, et al. Among authors: gunther b. Am J Med Genet A. 2006 Feb 1;140(3):281-3. doi: 10.1002/ajmg.a.31071. Am J Med Genet A. 2006. PMID: 16411202

3

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O. Janecke AR, et al. Among authors: gunther b. Am J Med Genet A. 2005 Mar 1;133A(2):128-31. doi: 10.1002/ajmg.a.30515. Am J Med Genet A. 2005. PMID: 15633193

4

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

Höckner M, Pinggera GM, Günther B, Sergi C, Fauth C, Erdel M, Kotzot D. Höckner M, et al. Among authors: gunther b. Fertil Steril. 2008 Nov;90(5):2009.e13-7. doi: 10.1016/j.fertnstert.2008.05.054. Epub 2008 Aug 6. Fertil Steril. 2008. PMID: 18687426 Free article. Review.

5

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

Janecke AR, Hirst-Stadlmann A, Günther B, Utermann B, Müller T, Löffler J, Utermann G, Nekahm-Heis D. Janecke AR, et al. Among authors: gunther b. Hum Genet. 2002 Aug;111(2):145-53. doi: 10.1007/s00439-002-0762-y. Epub 2002 Jul 3. Hum Genet. 2002. PMID: 12189487

6

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.

Günther B, Steiner A, Nekahm-Heis D, Albegger K, Zorowka P, Utermann G, Janecke A. Günther B, et al. Hum Mutat. 2003 Aug;22(2):180. doi: 10.1002/humu.9167. Hum Mutat. 2003. PMID: 12872268

7

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, Janecke AR. Löffler J, et al. Among authors: gunther b. Eur J Hum Genet. 2001 Mar;9(3):226-30. doi: 10.1038/sj.ejhg.5200607. Eur J Hum Genet. 2001. PMID: 11313763

8

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.

Obenauf AC, Schwarzbraun T, Auer M, Hoffmann EM, Waldispuehl-Geigl J, Ulz P, Günther B, Duba HC, Speicher MR, Geigl JB. Obenauf AC, et al. Among authors: gunther b. J Cell Mol Med. 2010 Aug;14(8):2078-84. doi: 10.1111/j.1582-4934.2010.01116.x. J Cell Mol Med. 2010. PMID: 20597996 Free PMC article.

9

High-energy X-ray diffraction experiment employing a compact synchrotron X-ray source based on inverse Compton scattering.

Melcher J, Dierolf M, Günther B, Achterhold K, Pfeiffer D, Pfeiffer F. Melcher J, et al. Among authors: gunther b. Z Med Phys. 2024 Apr 15:S0939-3889(24)00029-1. doi: 10.1016/j.zemedi.2024.03.003. Online ahead of print. Z Med Phys. 2024. PMID: 38631968 Free article.

10

A multidimensional approach to older patients during COVID-19 pandemic: a position paper of the Special Interest Group on Comprehensive Geriatric Assessment of the European Geriatric Medicine Society (EuGMS).

Pilotto A, Custodero C, Palmer K, Sanchez-Garcia EM, Topinkova E, Polidori MC; Members of the Special Interest Group on Comprehensive Geriatric Assessment of the EuGMS (European Geriatric Medicine Society). Pilotto A, et al. Eur Geriatr Med. 2023 Feb;14(1):33-41. doi: 10.1007/s41999-022-00740-3. Epub 2023 Jan 19. Eur Geriatr Med. 2023. PMID: 36656486 Free PMC article. Review.

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