Hanno Bolz
Overview
Explore the profile of Hanno Bolz including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
334
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Recent Articles
1.
Galvez-Ruiz A, Neuhaus C, Bergmann C, Bolz H
J Neuroophthalmol
. 2013 Sep;
33(4):349-53.
PMID: 24051421
Background: Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the OPA1 gene, which encodes dynamin-related GTPase, a protein of the internal mitochondrial membrane. To date,...
2.
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, et al.
Mol Vis
. 2007 Oct;
13:1862-5.
PMID: 17960123
Purpose: Mutations in the MYO7A gene are responsible for Usher syndrome type 1B (USH1B), the most common USH1 subtype, which accounts for the largest proportion of USH1 cases in most...
3.
Ebermann I, Scholl H, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, et al.
Hum Genet
. 2006 Dec;
121(2):203-11.
PMID: 17171570
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified...
4.
Bolz H, Ebermann I, Gal A
Mol Vis
. 2005 Nov;
11:929-33.
PMID: 16288196
Purpose: It has been demonstrated that mice lacking a functional copy of prCAD, the gene encoding protocadherin-21, show progressive photoreceptor degeneration. Therefore we searched for a human retinal phenotype associated...
5.
Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel G, et al.
Eur J Hum Genet
. 2005 Mar;
13(5):563-9.
PMID: 15770227
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition with male lethality characterized by microphthalmia, congenital cataracts, facial dysmorphic features, congenital heart defects, and dental anomalies. Mutations in BCOR (BCL6...
6.
Stefanova M, Meinecke P, Gal A, Bolz H
Am J Med Genet A
. 2005 Jan;
132A(4):386-90.
PMID: 15654694
We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD)...
7.
Bolz H, Bolz S, Schade G, Kothe C, Mohrmann G, Hess M, et al.
Hum Mutat
. 2004 Aug;
24(3):274-5.
PMID: 15300860
Both myosin 7A (MYO7A) and calmodulin (CaM) are required for transduction and adaptation processes in inner ear hair cells. We identified a novel heterozygous missense mutation (c.2557C>T; p.R853C) in a...
8.
Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A
Hear Res
. 2004 Feb;
188(1-2):42-6.
PMID: 14759569
Mutations in GJB2, encoding the gap junction protein connexin 26, are the most common cause of inherited non-syndromic hearing loss (NSHL), with a broad spectrum of mutations leading to recessive...
9.
Troger B, Kutsche K, Bolz H, Luttgen S, Gal A, Almassy Z, et al.
Am J Med Genet A
. 2003 Aug;
121A(1):82-4.
PMID: 12900909
No abstract available.
10.
Bolz H, Reiners J, Wolfrum U, Gal A
Adv Exp Med Biol
. 2003 Feb;
514:399-410.
PMID: 12596935
No abstract available.