Bolz HJ - Search Results

1

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Among authors: bolz hj. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.

2

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

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

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A. Boulouiz R, et al. Mol Vis. 2007 Oct 2;13:1862-5. Mol Vis. 2007. PMID: 17960123

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

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Among authors: bolz hj. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.

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

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

10

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Dafinger C, et al. Among authors: bolz hj. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. J Clin Invest. 2011. PMID: 21633164 Free PMC article.

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