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Snowflake degeneration in hereditary vitreoretinal degeneration.

作者信息

Hirose T, Lee K Y, Schepens C L

出版信息

Am J Ophthalmol. 1974 Feb;77(2):143-53. doi: 10.1016/0002-9394(74)90665-5.

DOI:10.1016/0002-9394(74)90665-5

PMID:4812083

Abstract

摘要

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Snowflake degeneration in hereditary vitreoretinal degeneration.

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引用本文的文献

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice.

Front Cell Dev Biol. 2022 Jan 12;9:810020. doi: 10.3389/fcell.2021.810020. eCollection 2021.

Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

Am J Physiol Cell Physiol. 2013 Mar 1;304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19.

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Am J Hum Genet. 2011 Jul 15;89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002.

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Am J Hum Genet. 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002.

The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission.

Graefes Arch Clin Exp Ophthalmol. 1994 Jan;232(1):16-24. doi: 10.1007/BF00176433.

Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

Graefes Arch Clin Exp Ophthalmol. 1994 Jun;232(6):330-6. doi: 10.1007/BF00175984.

The Wagner-Stickler syndrome complex.

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Autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Br J Ophthalmol. 1984 Jan;68(1):2-9. doi: 10.1136/bjo.68.1.2.

Retinitis pigmentosa: clinical observations and correlations.

Trans Am Ophthalmol Soc. 1983;81:693-735.

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Int Ophthalmol. 1986 Apr;9(1):45-60. doi: 10.1007/BF00225938.

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相似文献

Snowflake degeneration in hereditary vitreoretinal degeneration.

Am J Ophthalmol. 1974 Feb;77(2):143-53. doi: 10.1016/0002-9394(74)90665-5.

Wagner's hereditary vitreoretinal degeneration and retinal detachment.

Arch Ophthalmol. 1973 Mar;89(3):176-85. doi: 10.1001/archopht.1973.01000040178003.

Snowflake vitreoretinal degeneration: follow-up of the original family.

Ophthalmology. 2003 Dec;110(12):2418-26. doi: 10.1016/S0161-6420(03)00828-5.

[Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation].

Klin Monbl Augenheilkd. 1991 Mar;198(3):207-14. doi: 10.1055/s-2008-1045954.

[Hereditary macular degenerations].

Ophthalmologica. 1974;168(6):417-45. doi: 10.1159/000307065.

[Hereditary hyaloido-retinal degeneration (Wagner's disease)].

Vestn Oftalmol. 1970;4:75-6.

Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment.

Int Ophthalmol. 1986 Apr;9(1):45-60. doi: 10.1007/BF00225938.

Snowflake degeneration of the retina.

Ophthalmology. 1982 Dec;89(12):1513-7. doi: 10.1016/s0161-6420(82)34609-6.

Hereditary hyaloideoretinal degeneration and palatoschisis.

Arch Ophthalmol. 1970 Feb;83(2):152-62. doi: 10.1001/archopht.1970.00990030154006.

The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission.

Graefes Arch Clin Exp Ophthalmol. 1994 Jan;232(1):16-24. doi: 10.1007/BF00176433.

引用本文的文献

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice.

Front Cell Dev Biol. 2022 Jan 12;9:810020. doi: 10.3389/fcell.2021.810020. eCollection 2021.

Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

Am J Physiol Cell Physiol. 2013 Mar 1;304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19.

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Am J Hum Genet. 2011 Jul 15;89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002.

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Am J Hum Genet. 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002.

The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission.

Graefes Arch Clin Exp Ophthalmol. 1994 Jan;232(1):16-24. doi: 10.1007/BF00176433.

Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

Graefes Arch Clin Exp Ophthalmol. 1994 Jun;232(6):330-6. doi: 10.1007/BF00175984.

The Wagner-Stickler syndrome complex.

Doc Ophthalmol. 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204.

Autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Br J Ophthalmol. 1984 Jan;68(1):2-9. doi: 10.1136/bjo.68.1.2.

Retinitis pigmentosa: clinical observations and correlations.

Trans Am Ophthalmol Soc. 1983;81:693-735.

Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment.

Int Ophthalmol. 1986 Apr;9(1):45-60. doi: 10.1007/BF00225938.