Gal A - Search Results

1

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U. Renner AB, et al. Among authors: gal a. Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. doi: 10.1016/j.ajo.2008.09.007. Epub 2008 Nov 26. Am J Ophthalmol. 2009. PMID: 19038374

2

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A. Schuster A, et al. Among authors: gal a. Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31. doi: 10.1167/iovs.06-0628. Invest Ophthalmol Vis Sci. 2007. PMID: 17389517

3

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.

Kellner U, Fuchs S, Bornfeld N, Foerster MH, Gal A. Kellner U, et al. Among authors: gal a. Ophthalmic Genet. 1996 Jun;17(2):67-74. doi: 10.3109/13816819609057873. Ophthalmic Genet. 1996. PMID: 8832723

4

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C. Langmann T, et al. Among authors: gal a. Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705278 Free PMC article.

5

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: gal a. Br J Ophthalmol. 1995 Jan;79(1):28-34. doi: 10.1136/bjo.79.1.28. Br J Ophthalmol. 1995. PMID: 7880786 Free PMC article.

6

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.

Fuchs S, van de Pol D, Beudt U, Kellner U, Meire F, Berger W, Gal A. Fuchs S, et al. Among authors: gal a. Hum Mutat. 1996;8(1):85-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8807344 Free article. No abstract available.

7

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.

Fuchs S, Kellner U, Wedemann H, Gal A. Fuchs S, et al. Among authors: gal a. Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312. Hum Mutat. 1995. PMID: 8535448 No abstract available.

8

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mutat. 1997;10(6):479-85. doi: 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9401012

9

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: gal a. Ger J Ophthalmol. 1992;1(5):319-27. Ger J Ophthalmol. 1992. PMID: 1477634

10

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Chakarova CF, et al. Among authors: gal a. Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26. Am J Hum Genet. 2007. PMID: 17924349 Free PMC article.

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