Zobrazeno 1 - 10 of 16 pro vyhledávání: '"B. H. Weber"'
1
[Evidence-based diagnostic approach to inherited retinal dystrophies 2009]
Autor: U, Kellner, S, Kellner, A B, Renner, B S, Fiebig, S, Weinitz, B H, Weber
Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 226(12)
Hereditary retinal dystrophies comprise a heterogeneous group of inherited retinal disorders with variable clinical presentation and multiple associated genes. Clinical diagnosis and differential diagnosis are difficult. The purpose of the current pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a856e03667b37772f299e30257674af2
https://pubmed.ncbi.nlm.nih.gov/19757352
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2
Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer
Autor: J, Chang-Claude, H, Becher, M, Caligo, D, Eccles, G, Evans, N, Haites, S, Hodgson, P, Møller, B H, Weber, D, Stoppa-Lyonnet
Publikováno v: Disease Markers
For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing. We used data from eight collaborating centres
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0aa71c68af3dc4a2d99e06f06661b71c
https://pubmed.ncbi.nlm.nih.gov/10595253
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3
[Sorsby's fundus dystrophy. A genetically homogeneous disease]
Autor: U, Felbor, B H, Weber
Publikováno v: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft. 95(5)
The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene underlying SFD pathology has made it possible to address the question of genetic heterogeneity in this disorder. In addition, it now has become feasible to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0882b9132688fa8c4dcce7108219f7cf
https://pubmed.ncbi.nlm.nih.gov/9643018
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4
Localization of the human membrane-type 2 matrix metalloproteinase gene (MMP15) to 16q12.1 near DNA elements that are part of centromeric and non-centromeric heterochromatin of 11 human chromosomes
Autor: M R, Koehler, C G, Sauer, N, Reismann, C, Steinlein, B H, Weber, H, Will, M, Schmid
Publikováno v: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 6(3)
We have localized a second gene for membrane-type matrix metalloproteinases, MT2-MMP, to chromosome 16q12 by in situ hybridization. FISH experiments using a genomic PAC clone containing the MT2-MMP gene resulted in an unusual hybridization pattern de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b8867cb36cc71d15615b4be77ad46f0a
https://pubmed.ncbi.nlm.nih.gov/9609663
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5
[North Carolina macular dystrophy. Hereditary macular disease with good functional prognosis]
Autor: H D, Schworm, M W, Ulbig, J, Hoops, G, Rudolph, B H, Weber, O, Ehrt, K P, Boergen
Publikováno v: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft. 95(1)
North Carolina macular dystrophy (NCMD) is a rare autosomal dominant maculopathy with highly variable expressivity. Genetic analysis of an American family consisting of 247 members out of which 96 were affected with NCMD allowed chromosomal assignmen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::12fc4b08f8e91d9e6cf91734acd9c890
https://pubmed.ncbi.nlm.nih.gov/9531796
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7
[Genetics of macular degeneration]
Autor: B H, Weber
Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 210(1)
Hereditary macular degeneration comprise a large group of disorders characterized by a preferential loss of central vision due to degenerative changes in the macular area of the retina. The primary causes underlying these degenerative processes are u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e1333072ee794741bb9fb510e579425f
https://pubmed.ncbi.nlm.nih.gov/9206726
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9
Chemical modification of yeast 3-phosphoglycerate kinase
Autor: Francis S. Markland, A D Bacharach, G C Saunders, N Umemura, T C O'Grady, B H Weber
Publikováno v: Journal of Biological Chemistry. 250:1301-1310
Sulfhydryl reagents, as well as mild hydrogen peroxide oxidation, do not inhibit the activity of yeast phosphoglycerate kinase, indicating that the single thiol group and 3 methionine residues present in the enzyme are not essential for activity. Nit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8dd21870f63d06d700962b7ba15953d8
https://doi.org/10.1016/s0021-9258(19)41814-0
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10
PURIFICATION OF CHOLINE ACETYLTRANSFERASE FROM DROSOPHILA MELANOGASTER
Autor: W. J. Driskell, Eugene Roberts, B. H. Weber
Publikováno v: Journal of Neurochemistry. 30:1135-1141
— Purification of choline acetyltransferase (ChAc) from heads of Drosophila melanogaster, the richest known source of ChAc, has been accomplished. The stability of the enzyme was preserved by working with a concentration of protein above 0.1 mg/ml.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579062f23e90c61e4ceb8768c1dcb348
https://doi.org/10.1111/j.1471-4159.1978.tb12408.x
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