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Norrie's disease. Congenital progressive oculo-acoustico-cerebral degeneration.

作者信息

Fradkin A H

出版信息

Am J Ophthalmol. 1971 Nov;72(5):947-8. doi: 10.1016/0002-9394(71)91694-1.

DOI:10.1016/0002-9394(71)91694-1

PMID:5000913

Abstract

摘要

相似文献

Norrie's disease. Congenital progressive oculo-acoustico-cerebral degeneration.

Am J Ophthalmol. 1971 Nov;72(5):947-8. doi: 10.1016/0002-9394(71)91694-1.

Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family.

Am J Ophthalmol. 1973 Nov;76(5):797-803. doi: 10.1016/0002-9394(73)90580-1.

Norrie's disease--differential diagnosis and treatment.

Acta Ophthalmol (Copenh). 1975 Mar;53(2):217-36. doi: 10.1111/j.1755-3768.1975.tb01156.x.

Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness.

J Pediatr. 1971 Jul;79(1):89-92. doi: 10.1016/s0022-3476(71)80063-x.

Norrie's disease.

Ophthalmologica. 1970;160(5):375-7. doi: 10.1159/000306039.

Norrie's disease.

South Med J. 1971 Nov;64(11):1317-21. doi: 10.1097/00007611-197111000-00003.

Ocular histopathology of Norrie's disease.

Am J Ophthalmol. 1974 Aug;78(2):196-203. doi: 10.1016/0002-9394(74)90076-2.

Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness.

N Engl J Med. 1971 Feb 18;284(7):367-8. doi: 10.1056/NEJM197102182840707.

Letter: Norrie's disease.

Am J Ophthalmol. 1974 Jul;78(1):150-1. doi: 10.1016/0002-9394(74)90026-9.

[Retinal dysplasia (Norrie's disease)].

Bull Soc Ophtalmol Fr. 1970 Sep-Oct;70(9):941-4.

引用本文的文献

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.

EMBO Mol Med. 2023 Oct 11;15(10):e17393. doi: 10.15252/emmm.202317393. Epub 2023 Aug 29.

Norrie disease gene is distinct from the monoamine oxidase genes.

Am J Hum Genet. 1989 Sep;45(3):424-34.

Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Trans Am Ophthalmol Soc. 1992;90:405-79.

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相似文献

Norrie's disease. Congenital progressive oculo-acoustico-cerebral degeneration.

Am J Ophthalmol. 1971 Nov;72(5):947-8. doi: 10.1016/0002-9394(71)91694-1.

Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family.

Am J Ophthalmol. 1973 Nov;76(5):797-803. doi: 10.1016/0002-9394(73)90580-1.

Norrie's disease--differential diagnosis and treatment.

Acta Ophthalmol (Copenh). 1975 Mar;53(2):217-36. doi: 10.1111/j.1755-3768.1975.tb01156.x.

Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness.

J Pediatr. 1971 Jul;79(1):89-92. doi: 10.1016/s0022-3476(71)80063-x.

Norrie's disease.

Ophthalmologica. 1970;160(5):375-7. doi: 10.1159/000306039.

Norrie's disease.

South Med J. 1971 Nov;64(11):1317-21. doi: 10.1097/00007611-197111000-00003.

Ocular histopathology of Norrie's disease.

Am J Ophthalmol. 1974 Aug;78(2):196-203. doi: 10.1016/0002-9394(74)90076-2.

Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness.

N Engl J Med. 1971 Feb 18;284(7):367-8. doi: 10.1056/NEJM197102182840707.

Letter: Norrie's disease.

Am J Ophthalmol. 1974 Jul;78(1):150-1. doi: 10.1016/0002-9394(74)90026-9.

[Retinal dysplasia (Norrie's disease)].

Bull Soc Ophtalmol Fr. 1970 Sep-Oct;70(9):941-4.

引用本文的文献

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.

EMBO Mol Med. 2023 Oct 11;15(10):e17393. doi: 10.15252/emmm.202317393. Epub 2023 Aug 29.

Norrie disease gene is distinct from the monoamine oxidase genes.

Am J Hum Genet. 1989 Sep;45(3):424-34.

Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Trans Am Ophthalmol Soc. 1992;90:405-79.