Gal A - Search Results

1

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

2

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A. Bunge S, et al. Among authors: gal a. Hum Mutat. 1995;6(1):91-4. doi: 10.1002/humu.1380060119. Hum Mutat. 1995. PMID: 7550242 No abstract available.

3

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A. Janecke AR, et al. Among authors: gal a. Hum Mutat. 1999;13(2):133-40. doi: 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U. Hum Mutat. 1999. PMID: 10094549

4

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

5

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.

Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A. Kutsche K, et al. Among authors: gal a. Hum Mutat. 2002 May;19(5):526-35. doi: 10.1002/humu.10072. Hum Mutat. 2002. PMID: 11968085

6

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

7

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1992 Aug;1(5):335-9. doi: 10.1093/hmg/1.5.335. Hum Mol Genet. 1992. PMID: 1303211

8

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A. Popowska E, et al. Among authors: gal a. Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114. Hum Mutat. 1995. PMID: 7728156 No abstract available.

9

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1994 Jun;3(6):861-6. doi: 10.1093/hmg/3.6.861. Hum Mol Genet. 1994. PMID: 7951228

10

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1993 Nov;2(11):1871-5. doi: 10.1093/hmg/2.11.1871. Hum Mol Genet. 1993. PMID: 8281149

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