Bergen AA - Search Results

1

Identification of the gene responsible for Best macular dystrophy.

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C. Petrukhin K, et al. Among authors: bergen aa. Nat Genet. 1998 Jul;19(3):241-7. doi: 10.1038/915. Nat Genet. 1998. PMID: 9662395

2

The mutation spectrum of the bestrophin protein--functional implications.

Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C. Bakall B, et al. Among authors: bergen aa. Hum Genet. 1999 May;104(5):383-9. doi: 10.1007/s004390050972. Hum Genet. 1999. PMID: 10394929

3

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Among authors: bergen aa. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521

4

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. Among authors: bergen aa. Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199. Nat Genet. 1992. PMID: 1303235

5

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: bergen aa. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Nat Genet. 1998. PMID: 9697692

6

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Bech-Hansen NT, et al. Among authors: bergen aa. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619. Nat Genet. 2000. PMID: 11062471

7

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Bassi MT, et al. Among authors: bergen aa. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

8

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: bergen aa. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

9

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Cremers FP, et al. Among authors: bergen aa. Hum Mol Genet. 1998 Mar;7(3):355-62. doi: 10.1093/hmg/7.3.355. Hum Mol Genet. 1998. PMID: 9466990

10

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.

van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. van de Vosse E, et al. Among authors: bergen aa. Hum Genet. 1997 Dec;101(2):235-7. doi: 10.1007/s004390050622. Hum Genet. 1997. PMID: 9402977

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