Bergen AA - Search Results

1

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

2

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. Boycott KM, et al. Among authors: bergen aa. Hum Genet. 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461. Hum Genet. 2001. PMID: 11281458

3

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. Peachey NS, et al. Among authors: bergen aa. Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006. Am J Hum Genet. 2012. PMID: 22325362 Free PMC article.

4

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

5

Multipoint linkage analysis in X-linked juvenile retinoschisis.

Bergen AA, van Schooneveld MJ, Orth U, Bleeker-Wagemakers EM, Gal A. Bergen AA, et al. Clin Genet. 1993 Mar;43(3):113-6. doi: 10.1111/j.1399-0004.1993.tb04433.x. Clin Genet. 1993. PMID: 8500256

6

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

7

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

8

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.

Bergen AA, Samanns C, Van Dorp DB, Ferguson-Smith MA, Gal A, Bleeker-Wagemakers EM. Bergen AA, et al. Ophthalmic Paediatr Genet. 1990 Sep;11(3):165-70. doi: 10.3109/13816819009020975. Ophthalmic Paediatr Genet. 1990. PMID: 2280973

9

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.

Bergen AA, Schuurman EJ, van den Born LI, Samanns C, van Dorp DB, Pinckers AJ, Bakker E, van Ommen GJ, Gal A, Bleeker-Wagemakers EM. Bergen AA, et al. Clin Genet. 1992 Mar;41(3):135-8. doi: 10.1111/j.1399-0004.1992.tb03649.x. Clin Genet. 1992. PMID: 1348665

10

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

Bergen AA, Kestelyn P, Leys M, Meire F. Bergen AA, et al. J Med Genet. 1994 Jul;31(7):580-2. doi: 10.1136/jmg.31.7.580. J Med Genet. 1994. PMID: 7966198 Free PMC article.

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