Berger W - Search Results

1

Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

Zaremba J, Feil S, Juszko J, Myga W, van Duijnhoven G, Berger W. Zaremba J, et al. Among authors: berger w. Ophthalmic Genet. 1998 Sep;19(3):157-64. doi: 10.1076/opge.19.3.157.2184. Ophthalmic Genet. 1998. PMID: 9810571

2

Isolation of a candidate gene for Norrie disease by positional cloning.

Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M, et al. Berger W, et al. Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199. Nat Genet. 1992. PMID: 1303235

3

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Berger W, et al. Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461. Hum Mol Genet. 1992. PMID: 1307245 Review.

4

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

5

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: berger w. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

6

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

Berger W, van de Pol D, Bächner D, Oerlemans F, Winkens H, Hameister H, Wieringa B, Hendriks W, Ropers HH. Berger W, et al. Hum Mol Genet. 1996 Jan;5(1):51-9. doi: 10.1093/hmg/5.1.51. Hum Mol Genet. 1996. PMID: 8789439 Free article.

7

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Among authors: berger w. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

8

A Pst I restriction fragment length polymorphism near the MAO locus on Xp.

Salenger PV, Hueber P, Speller PJ, Van Duijnhoven G, Hoopes RR Jr, Thakker RV, Berger W, Scheinman SJ. Salenger PV, et al. Among authors: berger w. Ann Hum Genet. 1996 Sep;60(5):437. doi: 10.1111/j.1469-1809.1996.tb00441.x. Ann Hum Genet. 1996. PMID: 8912796 Free article. No abstract available.

9

Positional cloning of the gene for X-linked retinitis pigmentosa 2.

Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Schwahn U, et al. Among authors: berger w. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Nat Genet. 1998. PMID: 9697692

10

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. Kirschner R, et al. Among authors: berger w. Hum Mol Genet. 1999 Aug;8(8):1571-8. doi: 10.1093/hmg/8.8.1571. Hum Mol Genet. 1999. PMID: 10401007

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