Zobrazeno 1 - 10
of 46
pro vyhledávání: '"B S, Danes"'
Autor:
B. S. Danes
Publikováno v:
JAMA: The Journal of the American Medical Association. 247:2798-2802
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9db888cae7ee3ffd8107de13eba61f5
https://doi.org/10.1001/jama.247.20.2798
https://doi.org/10.1001/jama.247.20.2798
Publikováno v:
Journal of Medical Genetics. 14:103-107
The approach, identification of clinical phenotype followed by lysosomal enzyme assays in cell culture, used in the classification of the genetic mucopolysaccharidoses I-VI has been applied to the chondroitinsulphaturias. There was evidence of hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b68f4f7d972a84c9648f01cfa6d27755
https://doi.org/10.1136/jmg.14.2.103
https://doi.org/10.1136/jmg.14.2.103
Autor:
B S Danes
Publikováno v:
Journal of Medical Genetics. 14:346-351
An alpha-L-iduronidase deficiency syndrome has been described in adult male twins, which was phenotypically distinct from that of the Hurler and Scheie syndromes or the chondroitinsulphaturias. Multiple dysostosis and stiff joints were present withou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93e8bc7ddcabac560ab851afaeab496
https://doi.org/10.1136/jmg.14.5.346
https://doi.org/10.1136/jmg.14.5.346
Publikováno v:
Journal of Medical Genetics. 16:417-422
Cell culture studies on adenomatosis of the colon and rectum (ACR) suggested that the clinical phenotype, colonic adenomas which become malignant recognised as a single clinical entity, may not be entirely the result of a single dominant mutation. Of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a19570b95f4c897595c2a8a7a4624e1
https://doi.org/10.1136/jmg.16.6.417
https://doi.org/10.1136/jmg.16.6.417
Autor:
B S Danes, E J Gardner
Publikováno v:
Journal of Medical Genetics. 15:346-351
In vitro studies on skin cultures established from 49 members from Kindred 109, in whom the Gardner syndrome was first delineated, showed that increased in vitro tetraploidy occurred only in those cultures derived from branches with the full expressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ca3f43b19d4725bf7ced35d741405dc
https://doi.org/10.1136/jmg.15.5.346
https://doi.org/10.1136/jmg.15.5.346
Publikováno v:
Proceedings of the National Academy of Sciences. 70:548-551
A chromatographic fraction has been identified in media from fibroblast cultures derived from 15 of 18 cystic fibrosis patients and 8 of 10 heterozygotes that inhibits ciliary activity, as judged by the oyster gill assay. The analogous fraction of me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c402ed187c8ac4e3554283f1786d6042
https://doi.org/10.1073/pnas.70.2.548
https://doi.org/10.1073/pnas.70.2.548
Autor:
B S Danes, H Grossman
Publikováno v:
American Journal of Roentgenology. 103:149-153
Neurovisceral storage disease is inherited as an autosomal recessive trait.The patients have clinical and roentgenographic features resembling Hurler's disease. There is severe progressive cerebral degeneration with death occurring in the first two y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39c5b60e008f867ad63e5023b9d882d1
https://doi.org/10.2214/ajr.103.1.149
https://doi.org/10.2214/ajr.103.1.149
Autor:
B S Danes
Publikováno v:
Journal of Medical Genetics. 12:405-407
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae47734af83e85c180934966d72e643a
https://doi.org/10.1136/jmg.12.4.405
https://doi.org/10.1136/jmg.12.4.405
Publikováno v:
Disease markers. 6(3)
The incidence of tetraploidy in monolayer cultures of dermal fibroblasts from 40 clinically affected members from 10 families with heritable colon cancer was compared with similar cultures from 40 clinically normal volunteers with three different tec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::30c19587af12c9fdfb363eb390b0dd9a
https://pubmed.ncbi.nlm.nih.gov/3168398
https://pubmed.ncbi.nlm.nih.gov/3168398
Publikováno v:
Ugeskrift for laeger. 143(42)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::daac1cf6b14755352f9dd1c1684873e2
https://pubmed.ncbi.nlm.nih.gov/7324208
https://pubmed.ncbi.nlm.nih.gov/7324208