Zobrazeno 1 - 8
of 8
pro vyhledávání: '"I H Ellis"'
Publikováno v:
Journal of Medical Genetics. 29:563-567
In the course of defining mutations causing Tay-Sachs disease (TSD) in non-Jewish patients and carriers from the British Isles, we identified a guanine to adenine change (also previously described) in the obligatory GT sequence of the donor splice si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48bdc85cc6af5882c4e325cbad9dd5eb
https://doi.org/10.1136/jmg.29.8.563
https://doi.org/10.1136/jmg.29.8.563
Publikováno v:
Journal of Medical Genetics. 28:101-109
An assay for measuring hexosaminidase A in serum and leucocytes is described in which a centrifugal analyser is used for automation of the enzyme assays after manual heat inactivation. The assay was used in a screening programme to identify heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608523e4050efe66a0346bdcd86b74f3
https://doi.org/10.1136/jmg.28.2.101
https://doi.org/10.1136/jmg.28.2.101
Autor:
I H Ellis, E C Landels, Michael M. Kaback, Karen Zeiger, Joyce Lim-Steele, M Bobrow, Peter M. Green, A H Fensom, Nancy Levy
Publikováno v:
Journal of Medical Genetics. 30:479-481
In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles. It was found more frequently in subje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ebe0586c83da455993658f1c759ad3
https://doi.org/10.1136/jmg.30.6.479
https://doi.org/10.1136/jmg.30.6.479
Publikováno v:
The Medical clinics of North America. 84(3)
This article highlights several of the important issues and illustrates a European protocol that should be considered when offering genetic testing on a research or clinical basis for HP, as well as for other inherited disorders of the pancreas.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::baf979c45c6a4d20ce246246cc4aeed3
https://pubmed.ncbi.nlm.nih.gov/10872415
https://pubmed.ncbi.nlm.nih.gov/10872415
Publikováno v:
Journal of medical genetics. 28(3)
Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37929c55959e3c3d7294269521b4552
https://pubmed.ncbi.nlm.nih.gov/1828838
https://pubmed.ncbi.nlm.nih.gov/1828838
Autor:
I H Ellis
Publikováno v:
BMJ. 285:1337-1339
It had taken over a year of letter writing, grant applications, and visa petitioning, but as the lift doors opened I knew I had finally arrived. . . . Family groups were sitting in the waiting area and among them were several people clearly affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4844af9a3f50d9846f1e0d8c1a0c9c1c
https://doi.org/10.1136/bmj.285.6351.1337
https://doi.org/10.1136/bmj.285.6351.1337
Autor:
I H Ellis
Publikováno v:
BMJ. 287:1883-1884
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36f456d7b211a5069d4cf06ab5ab5fc3
https://doi.org/10.1136/bmj.287.6408.1883-b
https://doi.org/10.1136/bmj.287.6408.1883-b