Bolz HJ - Search Results

1

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF. Vaché C, et al. Among authors: bolz hj. Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 22009552

2

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A. von Brederlow B, et al. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

3

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H. Ebermann I, et al. Hum Genet. 2007 Apr;121(2):203-11. doi: 10.1007/s00439-006-0304-0. Epub 2006 Dec 15. Hum Genet. 2007. PMID: 17171570

4

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

Becirovic E, Ebermann I, Nagy D, Zrenner E, Seeliger MW, Bolz HJ. Becirovic E, et al. Among authors: bolz hj. Hum Mutat. 2008 Mar;29(3):452. doi: 10.1002/humu.9526. Hum Mutat. 2008. PMID: 18273900

5

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. Eur J Hum Genet. 2009 Jan;17(1):80-4. doi: 10.1038/ejhg.2008.143. Epub 2008 Jul 30. Eur J Hum Genet. 2009. PMID: 18665195 Free PMC article.

6

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM. Aller E, et al. Among authors: bolz hj. Mol Vis. 2010 Mar 23;16:495-500. Mol Vis. 2010. PMID: 20352026 Free PMC article.

7

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3. J Clin Invest. 2010. PMID: 20440071 Free PMC article.

8

Clinical utility gene card for: Usher syndrome.

Bolz HJ, Roux AF. Bolz HJ, et al. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.15. Epub 2011 Mar 9. Eur J Hum Genet. 2011. PMID: 21697857 Free PMC article. No abstract available.

9

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: bolz hj. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.

10

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. Hum Mutat. 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. Hum Mutat. 2007. PMID: 17301963

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