Utermann G - Search Results

1

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Heinz-Erian P, et al. Among authors: utermann g. Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185281 Free PMC article.

2

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

Janecke AR, Nekahm D, Löffler J, Hirst-Stadlmann A, Müller T, Utermann G. Janecke AR, et al. Among authors: utermann g. Hum Genet. 2001 Mar;108(3):269-70. doi: 10.1007/s004390100484. Hum Genet. 2001. PMID: 11354642

3

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Among authors: utermann g. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

4

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: utermann g. 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

5

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Gruber R, et al. Among authors: utermann g. Eur J Hum Genet. 2007 Feb;15(2):179-84. doi: 10.1038/sj.ejhg.5201742. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164798

6

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. Müller T, et al. Among authors: utermann g. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368

7

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR. Miltenberger-Miltenyi G, et al. Among authors: utermann g. Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259128 Free PMC article.

8

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. Dündar M, et al. Among authors: utermann g. Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010. Am J Hum Genet. 2009. PMID: 20004762 Free PMC article.

9

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: utermann b, utermann g. Hum Genet. 2002 Aug;111(2):145-53. doi: 10.1007/s00439-002-0762-y. Epub 2002 Jul 3. Hum Genet. 2002. PMID: 12189487

10

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: utermann g. Eur J Hum Genet. 2001 Mar;9(3):226-30. doi: 10.1038/sj.ejhg.5200607. Eur J Hum Genet. 2001. PMID: 11313763

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