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

Year Number of Results
1988 1
1989 1
1993 1
1995 1
1997 1
2006 1
2009 2
2011 1
2013 1
2017 1
2020 2
2024 0

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13 results

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Page 1
Galactose and cataract.
Stambolian D. Stambolian D. Surv Ophthalmol. 1988 Mar-Apr;32(5):333-49. doi: 10.1016/0039-6257(88)90095-1. Surv Ophthalmol. 1988. PMID: 3043741 Free article. Review.
Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase. Any single deficient enzyme can result in cataract through the accumulation of galactitol in the lens. T …
Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinas …
A review of the clinical and genetic aspects of aniridia.
Lee HJ, Colby KA. Lee HJ, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):306-12. doi: 10.3109/08820538.2013.825293. Semin Ophthalmol. 2013. PMID: 24138039 Review.
Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystagmus, and patients tend to develop visually significant pre-senile cataracts and keratopathy. Additionally, they are at high risk for developing gla …
Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystagmus, and patie …
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 …
Neurofibromatosis.
Roos KL, Muckway M. Roos KL, et al. Dermatol Clin. 1995 Jan;13(1):105-11. Dermatol Clin. 1995. PMID: 7712636 Review.
Individuals with neurofibromatosis 1 are at risk for optic nerve gliomas, nerve root and plexi neurofibromas and schwannomas, spinal cord tumors, benign and malignant peripheral nerve sheath tumors, and pheochromocytomas. Individuals with neurofibromatosis 2 are at risk for pr …
Individuals with neurofibromatosis 1 are at risk for optic nerve gliomas, nerve root and plexi neurofibromas and schwannomas, spinal cord tu …
Inherited metabolic diseases affecting the carrier.
Endres W. Endres W. J Inherit Metab Dis. 1997 Mar;20(1):9-20. doi: 10.1023/a:1005397120726. J Inherit Metab Dis. 1997. PMID: 9061562 Review.
Concerning carriers of food-dependent abnormalities, early vascular disease in homocystinuria, hyperammonaemic episodes in ornithine transcarbamylase deficiency, presenile cataracts in galactosaemia as well as galactokinase deficiency, spastic paraparesis in X-linke …
Concerning carriers of food-dependent abnormalities, early vascular disease in homocystinuria, hyperammonaemic episodes in ornithine transca …
[Neurofibromatosis type 2 and auditory brainstem implantation].
Elvsåshagen T, Solyga V, Bakke SJ, Heiberg A, Kerty E. Elvsåshagen T, et al. Tidsskr Nor Laegeforen. 2009 Aug 13;129(15):1469-73. doi: 10.4045/tidsskr.08.0151. Tidsskr Nor Laegeforen. 2009. PMID: 19690597 Free article. Review. Norwegian.
The hallmark of the disease is development of bilateral vestibular schwannomas, and the most common presenting symptom in adults is progressive hearing loss. Presenile cataract, ocular motility disorders, peripheral neuropathy and skin tumours are other common findi …
The hallmark of the disease is development of bilateral vestibular schwannomas, and the most common presenting symptom in adults is progress …
[Renal diseases related to MYH9 disorders].
Galeano D, Zanoli L, L'Imperio V, Fatuzzo P, Granata A. Galeano D, et al. G Ital Nefrol. 2017 Apr;34(2):40-57. G Ital Nefrol. 2017. PMID: 28682562 Review. Italian.
Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts …
Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk …
Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.
Asensio-Juárez G, Llorente-González C, Vicente-Manzanares M. Asensio-Juárez G, et al. Cells. 2020 Jun 12;9(6):1458. doi: 10.3390/cells9061458. Cells. 2020. PMID: 32545517 Free PMC article. Review.
Although caused by different MYH9 mutations, all patients present macrothrombocytopenia, but may later display other pathologies, including loss of hearing, renal failure and presenile cataracts. The correlation between the molecular and cellular effects of the diff …
Although caused by different MYH9 mutations, all patients present macrothrombocytopenia, but may later display other pathologies, including …
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.
Peripheral pigmentary changes and choroidal atrophy were characteristic. Six patients developed cataracts in their early 40s that required extraction. One patient had glaucoma, one developed a retinal detachment, and one had a spontaneous vitreous hemorrhage. Autosomal dom …
Peripheral pigmentary changes and choroidal atrophy were characteristic. Six patients developed cataracts in their early 40s that req …
MYH9 related platelet disorders - often unknown and misdiagnosed.
Althaus K, Najm J, Greinacher A. Althaus K, et al. Klin Padiatr. 2011 May;223(3):120-5. doi: 10.1055/s-0031-1275664. Epub 2011 May 12. Klin Padiatr. 2011. PMID: 21567368 Review.
Depending on the position of the causative mutation within the gene, the risk increases for syndromic manifestations such as renal failure, hearing loss and pre-senile cataract. Mutations in the neck region of the NMMHCIIA protein are more likely associated with these como …
Depending on the position of the causative mutation within the gene, the risk increases for syndromic manifestations such as renal failure, …
13 results