Bolz H - Search Results

1

Phenotypic variability in rippling muscle disease.

Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Vorgerd M, et al. Among authors: bolz h. Neurology. 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. Neurology. 1999. PMID: 10227634

2

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.

Bolz H, Ramírez A, von Brederlow B, Kubisch C. Bolz H, et al. Biochim Biophys Acta. 2001 Dec 30;1522(3):221-5. doi: 10.1016/s0167-4781(01)00329-3. Biochim Biophys Acta. 2001. PMID: 11779638

3

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

4

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.

5

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. Wilch E, et al. Among authors: bolz h. Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1. Clin Genet. 2010. PMID: 20236118 Free PMC article.

6

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.

7

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. Among authors: bolz h. Mol Vis. 2007 Oct 2;13:1862-5. Mol Vis. 2007. PMID: 17960123

8

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. Mol Vis. 2007 Aug 30;13:1539-47. Mol Vis. 2007. PMID: 17893653

9

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

10

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. Among authors: bolz h. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

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