Golovleva I - Search Results

1

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Köhn L, Kohl S, Bowne SJ, Sullivan LS, Kellner U, Daiger SP, Sandgren O, Golovleva I. Köhn L, et al. Among authors: golovleva i. Ophthalmic Genet. 2010 Sep;31(3):139-40. doi: 10.3109/13816810.2010.486776. Ophthalmic Genet. 2010. PMID: 20590364 Free PMC article.

2

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.

Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O. Burstedt MS, et al. Among authors: golovleva i. Arch Ophthalmol. 2001 Feb;119(2):260-7. Arch Ophthalmol. 2001. PMID: 11176989

3

Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions.

Golovleva I, Bhattacharya S, Wu Z, Shaw N, Yang Y, Andrabi K, West KA, Burstedt MS, Forsman K, Holmgren G, Sandgren O, Noy N, Qin J, Crabb JW. Golovleva I, et al. J Biol Chem. 2003 Apr 4;278(14):12397-402. doi: 10.1074/jbc.M207300200. Epub 2003 Jan 20. J Biol Chem. 2003. PMID: 12536144 Free article.

4

Retinal function in Bothnia dystrophy. An electrophysiological study.

Burstedt MS, Sandgren O, Golovleva I, Wachtmeister L. Burstedt MS, et al. Among authors: golovleva i. Vision Res. 2003 Nov;43(24):2559-71. doi: 10.1016/s0042-6989(03)00440-1. Vision Res. 2003. PMID: 13129542 Free article.

5

Tinted contact lenses in Bothnia dystrophy.

Jonsson AC, Burstedt MS, Golovleva I, Sandgren O. Jonsson AC, et al. Among authors: golovleva i. Acta Ophthalmol Scand. 2007 Aug;85(5):534-9. doi: 10.1111/j.1600-0420.2007.00894.x. Epub 2007 Mar 22. Acta Ophthalmol Scand. 2007. PMID: 17376191 Free article.

6

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.

Köhn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I. Köhn L, et al. Among authors: golovleva i. Eur J Hum Genet. 2007 Jun;15(6):664-71. doi: 10.1038/sj.ejhg.5201817. Epub 2007 Mar 21. Eur J Hum Genet. 2007. PMID: 17377520

7

Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study.

Burstedt MS, Sandgren O, Golovleva I, Wachtmeister L. Burstedt MS, et al. Among authors: golovleva i. Doc Ophthalmol. 2008 May;116(3):193-205. doi: 10.1007/s10633-007-9082-9. Epub 2007 Oct 6. Doc Ophthalmol. 2008. PMID: 17922155

8

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.

Köhn L, Kadzhaev K, Burstedt MS, Haraldsson S, Sandgren O, Golovleva I. Köhn L, et al. Among authors: golovleva i. Adv Exp Med Biol. 2008;613:229-34. doi: 10.1007/978-0-387-74904-4_26. Adv Exp Med Biol. 2008. PMID: 18188949 No abstract available.

9

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I. Köhn L, et al. Among authors: golovleva i. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3172-7. doi: 10.1167/iovs.07-1664. Epub 2008 Mar 14. Invest Ophthalmol Vis Sci. 2008. PMID: 18344446

10

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.

Köhn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O, Golovleva I. Köhn L, et al. Among authors: golovleva i. Eur J Hum Genet. 2009 May;17(5):651-5. doi: 10.1038/ejhg.2008.223. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050727 Free PMC article.

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