Gal A - Search Results

1

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R. Azam M, et al. Among authors: gal a. Mol Vis. 2009 Dec 3;15:2526-34. Mol Vis. 2009. PMID: 19960070 Free PMC article.

2

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Among authors: gal a. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.

3

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Schob C, Orth U, Gal A, Kindler S, Chakarova CF, Bhattacharya SS, Rüther K. Schob C, et al. Among authors: gal a. Ophthalmic Genet. 2009 Jun;30(2):96-8. doi: 10.1080/13816810802695543. Ophthalmic Genet. 2009. PMID: 19373681

4

Three novel PAX6 mutations in patients with aniridia.

Zumkeller W, Orth U, Gal A. Zumkeller W, et al. Among authors: gal a. Mol Pathol. 2003 Jun;56(3):180-3. doi: 10.1136/mp.56.3.180. Mol Pathol. 2003. PMID: 12782766 Free PMC article.

5

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Gal A, et al. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64. Nat Genet. 1994. PMID: 8075643

6

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D. Gal A, et al. Nat Genet. 2000 Nov;26(3):270-1. doi: 10.1038/81555. Nat Genet. 2000. PMID: 11062461

7

Missense rhodopsin mutation in a family with recessive RP.

Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CR, Orth U, Oehlmann R, Gal A. Kumaramanickavel G, et al. Among authors: gal a. Nat Genet. 1994 Sep;8(1):10-1. doi: 10.1038/ng0994-10. Nat Genet. 1994. PMID: 7987385 No abstract available.

8

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

Rio Frio T, Panek S, Iseli C, Di Gioia SA, Kumar A, Gal A, Rivolta C. Rio Frio T, et al. Among authors: gal a. Mol Vis. 2009 Dec 8;15:2627-33. Mol Vis. 2009. PMID: 20011630 Free PMC article.

9

[Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity].

Orth U, Samanns C, Gusseck H, Niemeyer G, Ludwig M, Meitinger T, Schinzel A, Schwinger E, Gal A. Orth U, et al. Among authors: gal a. Fortschr Ophthalmol. 1991;88(5):455-9. Fortschr Ophthalmol. 1991. PMID: 1757031 German.

10

Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected.

Wicklein EM, Orth U, Gal A, Kunze K. Wicklein EM, et al. Among authors: gal a. J Neurol Neurosurg Psychiatry. 1997 Sep;63(3):379-81. doi: 10.1136/jnnp.63.3.379. J Neurol Neurosurg Psychiatry. 1997. PMID: 9328258 Free PMC article.

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