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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1981 1
1982 2
1983 1
1986 1
1993 2
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2009 1
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2014 2
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2020 2
2023 1
2024 0

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18 results

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Page 1
MYH9-related platelet disorders.
Althaus K, Greinacher A. Althaus K, et al. Semin Thromb Hemost. 2009 Mar;35(2):189-203. doi: 10.1055/s-0029-1220327. Epub 2009 Apr 30. Semin Thromb Hemost. 2009. PMID: 19408192 Review.
Macrothrombocytopenia is present in all affected individuals, whereas only some develop additional clinical manifestations such as renal failure, hearing loss, and presenile cataracts. The bleeding tendency is usually moderate, with menorrhagia and easy bruising bei …
Macrothrombocytopenia is present in all affected individuals, whereas only some develop additional clinical manifestations such as renal fai …
Autosomal dominant vitreoretinochoroidopathy.
Kaufman SJ, Goldberg MF, Orth DH, Fishman GA, Tessler H, Mizuno K. Kaufman SJ, et al. Arch Ophthalmol. 1982 Feb;100(2):272-8. doi: 10.1001/archopht.1982.01030030274008. Arch Ophthalmol. 1982. PMID: 7065944
Most affected family members have diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. The vitreous is characterized by fibrillar condensation and a moderate number of cells. ...
Most affected family members have diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. The v …
Scanning and transmission electron microscopy study of anterior lens epithelium in presenile cataract.
Wu J, Zhou J, Ping X, Xu X, Cui Y, Yang H, Yin Q, Shentu X. Wu J, et al. Int Ophthalmol. 2020 Jun;40(6):1411-1418. doi: 10.1007/s10792-020-01307-6. Epub 2020 Mar 6. Int Ophthalmol. 2020. PMID: 32144529
METHODS: The anterior lens capsules (aLCs) of patients with presenile cataracts and patients with ordinary age-related cataracts were obtained from routine cataract surgery, and the 5-5.5 mm circles of the central aLC were cut in half and prepared for transmission e …
METHODS: The anterior lens capsules (aLCs) of patients with presenile cataracts and patients with ordinary age-related catarac …
Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Traboulsi EI, Payne JW. Traboulsi EI, et al. Arch Ophthalmol. 1993 Feb;111(2):194-6. doi: 10.1001/archopht.1993.01090020048021. Arch Ophthalmol. 1993. PMID: 8431155 Review.
Autosomal dominant vitreoretinochoroidopathy is a well-defined condition featuring presenile cataracts, vitreal degeneration, characteristic ophthalmoscopic findings, and good visual prognosis....
Autosomal dominant vitreoretinochoroidopathy is a well-defined condition featuring presenile cataracts, vitreal degeneration, …
Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.
Li H, Li H, Yang L, Sun Z, Wu S, Sui R. Li H, et al. Ophthalmic Genet. 2020 Oct;41(5):432-439. doi: 10.1080/13816810.2020.1786843. Epub 2020 Jul 6. Ophthalmic Genet. 2020. PMID: 32623950
RESULTS: Affected subjects manifested typical WVR features, including an optically empty vitreous with vitreoretinal membranes and veils, chorioretinal atrophy, and presenile cataracts. One patient was complicated with retinal detachment. ...
RESULTS: Affected subjects manifested typical WVR features, including an optically empty vitreous with vitreoretinal membranes and veils, ch …
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I. Thomas S, et al. Eur J Hum Genet. 2014 Mar;22(3):344-9. doi: 10.1038/ejhg.2013.162. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942204 Free PMC article.
We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. ...
We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts …
Cataracts in patients heterozygous for galactokinase deficiency.
Stambolian D, Scarpino-Myers V, Eagle RC Jr, Hodes B, Harris H. Stambolian D, et al. Invest Ophthalmol Vis Sci. 1986 Mar;27(3):429-33. Invest Ophthalmol Vis Sci. 1986. PMID: 3949470
The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined. Erythrocyte galactokinase activity was measured from 95 normal Caucasian subjects and from 39 Caucasian patients who had developed idiopathic bilat …
The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined. Erythro …
Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Prchal JT, Conrad ME, Skalka HW. Prchal JT, et al. Lancet. 1978 Jan 7;1(8054):12-3. doi: 10.1016/s0140-6736(78)90359-8. Lancet. 1978. PMID: 74495
Even when Black subjects were excluded from analysis because of their high incidence of polymorphism for galactokinase, these findings are significantly different from those expected from population surveys and suggest that many patients with presenile cataracts hav …
Even when Black subjects were excluded from analysis because of their high incidence of polymorphism for galactokinase, these findings are s …
Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase.
Orzalesi N, Sorcinelli R, Guiso G. Orzalesi N, et al. Arch Ophthalmol. 1981 Jan;99(1):69-70. doi: 10.1001/archopht.1981.03930010071004. Arch Ophthalmol. 1981. PMID: 7458742
The frequency of the deficiency was increasingly higher in presenile cataracts. In the G6PD-deficient group, the incidence of cortical and total cataracts was also increased. ...
The frequency of the deficiency was increasingly higher in presenile cataracts. In the G6PD-deficient group, the incidence of …
18 results