Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity (Q28211673)

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E D Silva

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O H Sundin

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M F Goldberg

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M R De Jong

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J S Sunness

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R Zeimer

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D G Hunter

Optic nerve coloboma associated with renal disease

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language of work or name

English

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publication date

April 2001

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published in

Ophthalmology

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volume

108

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issue

4

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page(s)

738-49

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cites work

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7 January 2021

Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature

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7 January 2021

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

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Mutation of PAX2 in two siblings with renal-coloboma syndrome

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Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease

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Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome

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Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

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Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

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Genomic structure of the human PAX2 gene

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Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus

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Morning glory syndrome. A functional analysis including fluorescein angiography, ultrasonography, and computerized tomography.

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Doppler ultrasonography of the ophthalmic and central retinal vessels

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Color Doppler imaging of the eye and orbit. Technique and normal vascular anatomy

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Noninvasive mapping of the normal retinal thickness at the posterior pole

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Arterial vascular anomalies of the retina

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Development of cilioretinal collaterals in a patient with calcific valvular heart disease

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The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

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The molecular basis of embryonic kidney development

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Pax-2, kidney development, and oncogenesis

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Pax2 expression and retinal morphogenesis in the normal and Krd mouse

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Ocular and optic nerve blood flow at normal and increased intraocular pressures in monkeys (Macaca irus): a study with radioactively labelled microspheres including flow determinations in brain and some other tissues

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