Gal A - Search Results

1

Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.

Willers I, Bolz H, Wehnert M, Gal A. Willers I, et al. Among authors: gal a. J Inherit Metab Dis. 1999 Oct;22(7):845-6. doi: 10.1023/a:1005522527689. J Inherit Metab Dis. 1999. PMID: 10518289 No abstract available.

2

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.

Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Brühl K, Gal A, Bunge S, Beck M. Whybra C, et al. Among authors: gal a. J Inherit Metab Dis. 2001 Dec;24(7):715-24. doi: 10.1023/a:1012993305223. J Inherit Metab Dis. 2001. PMID: 11804208

3

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: gal a. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

4

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

Bolz H, Reiners J, Wolfrum U, Gal A. Bolz H, et al. Among authors: gal a. 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.

5

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. Among authors: gal a. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

6

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. Among authors: gal a. Hear Res. 2004 Feb;188(1-2):42-6. doi: 10.1016/S0378-5955(03)00346-0. Hear Res. 2004. PMID: 14759569

7

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. Among authors: gal a. Hum Mutat. 2004 Sep;24(3):274-5. doi: 10.1002/humu.9272. Hum Mutat. 2004. PMID: 15300860

8

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

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

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: gal a. 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

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Stefanova M, Meinecke P, Gal A, Bolz H. Stefanova M, et al. Among authors: gal a. Am J Med Genet A. 2005 Feb 1;132A(4):386-90. doi: 10.1002/ajmg.a.30484. Am J Med Genet A. 2005. PMID: 15654694

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