Bech-Hansen NT - Search Results

1

Development of a 1.4-Mb BAC/PAC contig and physical map within the critical region for complete X-linked congenital stationary night blindness in Xp11.4.

Sparkes RL, Summer CG, Boycott KM, Zahorchak RJ, Bech-Hansen NT. Sparkes RL, et al. Genomics. 2000 Aug 15;68(1):97-100. doi: 10.1006/geno.2000.6270. Genomics. 2000. PMID: 10950933

2

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. Boycott KM, et al. Am J Hum Genet. 1998 Apr;62(4):865-75. doi: 10.1086/301781. Am J Hum Genet. 1998. PMID: 9529339 Free PMC article.

3

Construction of a 1.5-Mb bacterial artificial chromosome contig in Xp11.23, a region of high gene content.

Boycott KM, Zahorchak RJ, Summer CG, Boycott NP, Kotak V, Russell CG, Bech-Hansen NT. Boycott KM, et al. Genomics. 1998 Mar 15;48(3):369-72. doi: 10.1006/geno.1997.5167. Genomics. 1998. PMID: 9545643

4

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Bech-Hansen NT, et al. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Nat Genet. 1998. PMID: 9662400

5

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.

Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG. Bech-Hansen NT, et al. Hum Genet. 1998 Aug;103(2):124-30. doi: 10.1007/s004390050794. Hum Genet. 1998. PMID: 9760193

6

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.

Boycott KM, Pearce WG, Bech-Hansen NT. Boycott KM, et al. Can J Ophthalmol. 2000 Jun;35(4):204-13. doi: 10.1016/s0008-4182(00)80031-9. Can J Ophthalmol. 2000. PMID: 10900517

7

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. Hum Genet. 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461. Hum Genet. 2001. PMID: 11281458

8

A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255.

Boycott KM, Halley GR, Schlessinger D, Bech-Hansen NT. Boycott KM, et al. Genomics. 1996 May 1;33(3):488-97. doi: 10.1006/geno.1996.0224. Genomics. 1996. PMID: 8661008

9

Integration of 101 DNA markers across human Xp11 using a panel of somatic cell hybrids.

Boycott KM, Moore BJ, Gratton KJ, Stoddart KL, Roland B, Bech-Hansen NT. Boycott KM, et al. Cytogenet Cell Genet. 1997;76(3-4):223-8. doi: 10.1159/000134555. Cytogenet Cell Genet. 1997. PMID: 9186530

10

Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.

Naylor MJ, Rancourt DE, Bech-Hansen NT. Naylor MJ, et al. Genomics. 2000 Jun 15;66(3):324-7. doi: 10.1006/geno.2000.6204. Genomics. 2000. PMID: 10873387

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