Bolz HJ - Search Results

1

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. Genome Biol. 2007;8(4):R47. doi: 10.1186/gb-2007-8-4-r47. Genome Biol. 2007. PMID: 17407589 Free PMC article.

2

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

Bolz H, Ebermann I, Gal A. Bolz H, et al. Mol Vis. 2005 Nov 3;11:929-33. Mol Vis. 2005. PMID: 16288196 Free article.

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

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

5

Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. Mol Vis. 2007 Aug 30;13:1539-47. Mol Vis. 2007. PMID: 17893653

6

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

7

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c. Neurology. 2008. PMID: 18541889 No abstract available.

8

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.

9

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ. Mégarbané A, et al. Among authors: bolz hj. Eur J Hum Genet. 2009 Aug;17(8):1076-9. doi: 10.1038/ejhg.2008.273. Epub 2009 Feb 4. Eur J Hum Genet. 2009. PMID: 19190672 Free PMC article.

10

GPR98 mutations cause Usher syndrome type 2 in males.

Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ. Ebermann I, et al. Among authors: bolz hj. J Med Genet. 2009 Apr;46(4):277-80. doi: 10.1136/jmg.2008.059626. J Med Genet. 2009. PMID: 19357117

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