Bolz HJ - Search Results

1

Role of sphingosine-1-phosphate phosphohydrolase 1 in the regulation of resistance artery tone.

Peter BF, Lidington D, Harada A, Bolz HJ, Vogel L, Heximer S, Spiegel S, Pohl U, Bolz SS. Peter BF, et al. Among authors: bolz hj, bolz ss. Circ Res. 2008 Aug 1;103(3):315-24. doi: 10.1161/CIRCRESAHA.108.173575. Epub 2008 Jun 26. Circ Res. 2008. PMID: 18583713 Free PMC article.

2

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).

Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A. Bolz H, et al. Hum Mutat. 2004 Sep;24(3):274-5. doi: 10.1002/humu.9272. Hum Mutat. 2004. PMID: 15300860

3

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ. Thoenes M, et al. Among authors: bolz hj. Orphanet J Rare Dis. 2015 Feb 10;10:15. doi: 10.1186/s13023-015-0238-5. Orphanet J Rare Dis. 2015. PMID: 25759012 Free PMC article.

4

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

5

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A. Bolz H, et al. Hear Res. 2004 Feb;188(1-2):42-6. doi: 10.1016/S0378-5955(03)00346-0. Hear Res. 2004. PMID: 14759569

6

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.

7

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

8

Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.

Bolz H, Reiners J, Wolfrum U, Gal A. Bolz H, et al. Adv Exp Med Biol. 2002;514:399-410. doi: 10.1007/978-1-4615-0121-3_24. Adv Exp Med Biol. 2002. PMID: 12596935 Review. No abstract available.

9

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.

Linder B, Hirmer A, Gal A, Rüther K, Bolz HJ, Winkler C, Laggerbauer B, Fischer U. Linder B, et al. Among authors: bolz hj. PLoS One. 2014 Nov 10;9(11):e111754. doi: 10.1371/journal.pone.0111754. eCollection 2014. PLoS One. 2014. PMID: 25383878 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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