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of 96
pro vyhledávání: '"L N Went"'
Publikováno v:
Hereditary Malignant Melanoma ISBN: 9780429276514
Hereditary Malignant Melanoma
Hereditary Malignant Melanoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b0f8d73c526b0397ed2456944aaad24
https://doi.org/10.1201/9780429276514-3
https://doi.org/10.1201/9780429276514-3
Autor:
L. N. Went, E. C. De Vries-De Mol
Publikováno v:
Clinical Genetics. 2:15-27
A man with a unilateral colour vision defect is reported. The defect of his right eye can best be defined as lying between deuteranopia and extreme deuteranomaly. The left eye was unusual in that it gave a normal Rayleigh equation on the anomaloscope
Autor:
L N, WENT
Publikováno v:
Helvetica physiologica et pharmacologica acta. 4
Publikováno v:
Journal of Medical Genetics. 29:295-298
A dominant cone dystrophy spanning seven generations was found in a pedigree from the Netherlands. The onset of the decline of visual acuity started after the age of 20, while a near complete absence of blue cone function (a so-called tritan defect)
Autor:
Riccardo Fodde, H. van Heeren, L N Went, Monique Losekoot, C. L. Harteveld, Piero C. Giordano, Luigi F. Bernini
Publikováno v:
Journal of Medical Genetics. 28:252-255
A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA
Publikováno v:
Journal of the neurological sciences. 113(1)
Neuropathological findings in a 59-year-old male case of hereditary spastic dystonia with Leber's hereditary optic atrophy included: marked depletion of myelinated nerve fibres in the posterior funiculi, corticopontine tracts and striatum; practicall
Publikováno v:
American journal of human genetics. 51(2)
We investigated 111 members of a five generation family with X linked cone dystrophy. The patients showed the characteristic picture of cone dystrophy. Routine ophthalmological examination of the carrier women showed no abnormalities. However, with d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3259a178385afad2d76d176b0dd5a02
https://europepmc.org/articles/PMC1015946/
https://europepmc.org/articles/PMC1015946/
Publikováno v:
The British journal of ophthalmology. 75(6)
The results of ophthalmological and colour vision studies are reported on 13 patients from a family with a dominant cone dystrophy spanning seven generations. The onset of visual deterioration occurred in the third or fourth decade. In the early stag
Publikováno v:
Journal of the neurological sciences. 103(2)
A large kindred, in which either Leber's hereditary optic atrophy, or a hereditary spastic dystonia, or a combination of both manifested over many generations was restudied after the first report on it in 1964. NMR scans revealed bilateral, and, in t