Zobrazeno 1 - 10
of 136
pro vyhledávání: '"I. Willers"'
Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families*
Publikováno v:
Clinical Genetics. 11:193-200
Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37f3aa6af7c15b0571175144c0a9806
https://doi.org/10.1111/j.1399-0004.1977.tb01299.x
https://doi.org/10.1111/j.1399-0004.1977.tb01299.x
Publikováno v:
Clinical Genetics. 11:277-284
Fibroblast strains derived from six patients with maple syrup urine disease have been investigated for their requirements of the cofactors NAD, CoASH, Mg++ and TPP in comparison with 10 normal control strains. The reconstitution of the decarboxylase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d809331fd75241d3bc3e1fefbe04fe24
https://doi.org/10.1111/j.1399-0004.1977.tb01313.x
https://doi.org/10.1111/j.1399-0004.1977.tb01313.x
Publikováno v:
Archives of Gynecology and Obstetrics. 248:87-92
In long-term cultures of chorion villi the expression of cytoskeletal proteins — vimentin, cytokeratin, actin, tropomyosin and vinculin — was studied using immunoreactivity to antibodies. Vimentin was detected in all cells of chorionic villi cult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::976caaca0a2618764774b8b21d02e58a
https://doi.org/10.1007/bf02389580
https://doi.org/10.1007/bf02389580
Autor:
Michael Beck, I. Willers, Rossella Parini, Bengt Lindblad, Catharina Whybra, Andreas Gal, Uma Ramaswami, Markus Ries
Publikováno v:
European journal of pediatrics. 162(11)
Fabry disease (FD) is a debilitating progressive multisystem X-linked lysosomal storage disorder. It was generally believed that the disease affects only adult males. Through systematic pedigree analysis, we identified 35 paediatric FD patients (age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb3e37af879ffecc4f309f4b5567581f
https://pubmed.ncbi.nlm.nih.gov/14505049
https://pubmed.ncbi.nlm.nih.gov/14505049
Publikováno v:
ICECCS
Proceedings First IEEE International Conference on Engineering of Complex Computer Systems (ICECCS'95, Fort Lauderdale FL, USA, November 6-10, 1995), 207-210
STARTPAGE=207;ENDPAGE=210;TITLE=Proceedings First IEEE International Conference on Engineering of Complex Computer Systems (ICECCS'95, Fort Lauderdale FL, USA, November 6-10, 1995)
Proceedings First IEEE International Conference on Engineering of Complex Computer Systems (ICECCS'95, Fort Lauderdale FL, USA, November 6-10, 1995), 207-210
STARTPAGE=207;ENDPAGE=210;TITLE=Proceedings First IEEE International Conference on Engineering of Complex Computer Systems (ICECCS'95, Fort Lauderdale FL, USA, November 6-10, 1995)
PORS is a system designed for on-line event reconstruction in high energy physics (HEP) experiments. It uses the CPREAD reconstruction program. Central to the system is a parallel in-memory database which is used as communication medium between paral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f458475be6220ca7c7ff7369c47b94
https://doi.org/10.1109/iceccs.1995.479330
https://doi.org/10.1109/iceccs.1995.479330
Publikováno v:
PDP
Large, Petabyte-scale data stores need detailed design considerations about distributing and replicating particular parts of the data store in a cost-effective way. Technical issues need to be analysed and, based on these constraints, an optimisation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42b4c9b7a1918d0c1956a21c5c555a8c
https://doi.org/10.1109/empdp.2001.905075
https://doi.org/10.1109/empdp.2001.905075
Autor:
S. Bunge, Catharina Whybra, Bryan Winchester, K. Brühl, C. Kampmann, Jörg Kriegsmann, Mathias Beck, Jessica Davies, I. Willers, Andreas Gal
Publikováno v:
Journal of inherited metabolic disease. 24(7)
Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01f1840427446622e226c2ccbcd6907
https://pubmed.ncbi.nlm.nih.gov/11804208
https://pubmed.ncbi.nlm.nih.gov/11804208
Publikováno v:
Pathobiology. 61:197-199
The human hepatoma cell line G2 (Hep G2) has been compared to lung carcinoma, sarcoma and skin fibroblasts for the expression of intermediate filaments, i.e. vimentin and cytokeratin. The immunofluorescence study revealed that, in contradiction to Sz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c4a5d1ffcab191d01dd38ddd5cb497
https://doi.org/10.1159/000163793
https://doi.org/10.1159/000163793
Publikováno v:
Clinical Genetics. 8:18-19
A micromethod enabling the making of chromosome preparations from fibroblasts and amniotic cells cultured on surface-treated Microtest II plates is presented. Preparations from each well contain sufficient metaphases to perform a reliable diagnosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681e27c5d3ee069a39e581a8e9aeffcf
https://doi.org/10.1111/j.1399-0004.1975.tb01949.x
https://doi.org/10.1111/j.1399-0004.1975.tb01949.x
Publikováno v:
Journal of the neurological sciences. 117(1-2)
Fibroblasts obtained from patients with Friedreich's ataxia and normal control subjects were studied by immunocytochemistry for intermediate filament vimentin and also for in vitro proliferation. Trypsinized cells were seeded on coverslips and incuba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3383c930dab2e1678de408b23ef407aa
https://pubmed.ncbi.nlm.nih.gov/8410050
https://pubmed.ncbi.nlm.nih.gov/8410050