Zobrazeno 1 - 7
of 7
pro vyhledávání: '"R. D. F. M. Taalman"'
Autor:
Karl Mehnert, J. M. J. C. Scheres, Klaus Rodens, Detlev Schindler, R. D. F. M. Taalman, Max Müller, Helga Seyschab, Gotthold Barbi
Publikováno v:
American Journal of Medical Genetics. 40:44-50
We report on a microcephalic, growth-retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiecta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb052d4184dee27c1e073ef46487a1a6
https://doi.org/10.1002/ajmg.1320400109
https://doi.org/10.1002/ajmg.1320400109
Autor:
Jacques M. J. C. Scheres, Theo W. J. Hustinx, Corry M.R. Weemaes, R. D. F. M. Taalman, Angela Schmidt, E. Passarge, Eva Seemanova
Publikováno v:
American Journal of Medical Genetics. 32:425-431
We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e27e4943044fe36eab01a752453af7e
https://doi.org/10.1002/ajmg.1320320332
https://doi.org/10.1002/ajmg.1320320332
Publikováno v:
Mutation Research/DNA Repair Reports. 112:23-32
The Nijmegen Breakage Syndrome (NBS) is a new chromosomal instability disorder different from ataxia telangiectasia (AT) and other chromosome-breakage syndromes. Cells from an NBS patient appeared hypersensitive to X-irradiation. X-rays induced signi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3fb9e14067271446218591ca109752a
https://doi.org/10.1016/0167-8817(83)90021-4
https://doi.org/10.1016/0167-8817(83)90021-4
Autor:
Corry M.R. Weemaes, T.W.J. Hustinx, R. D. F. M. Taalman, J. M. J. C. Scheres, P. J. J. Van Munster, J. A. J. M. Bakkeren
Publikováno v:
Acta paediatrica Scandinavica. 70(4)
Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. M. J. C, van Minister, P. J. J., Bakkeren, J. A. J. M. and Taalman, R. D. F. M. (Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands.) Acta Paediatr Scand,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376f282067bb1d2042c207d024166fc2
https://pubmed.ncbi.nlm.nih.gov/7315300
https://pubmed.ncbi.nlm.nih.gov/7315300
Autor:
T. W. J. Hustinx, R. D. F. M. Taalman, J. M. E. Clement, G. B. A. Stoelinga, Corry M.R. Weemaes, J. M. J. C. Scheres
Publikováno v:
Clinical genetics. 32(2)
Chromosome analysis was performed in 17 children with IgA-deficiency. In two patients a constitutional structural chromosome abnormality was found. A ring chromosome 22 was seen in one, while in the other a mosaicism of ring chromosome 18/18p+ was ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76896e9851edd679bc62adb3dbbe01c4
https://pubmed.ncbi.nlm.nih.gov/3652494
https://pubmed.ncbi.nlm.nih.gov/3652494
Publikováno v:
American Journal of Medical Genetics. 33:289-289
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8aaee0dbc18dc95159391e80ca572a1d
https://doi.org/10.1002/ajmg.1320330302
https://doi.org/10.1002/ajmg.1320330302
Autor:
J. M. J. C. Scheres, Corry M.R. Weemaes, R. D. F. M. Taalman, T. W. J. Hustinx, E Passarge, E Seemanova
Publikováno v:
Pediatric Research. 20:1060-1060
In 1981 Weemaes et al.(Acta Paediatr.Scand.70:557-564 1981) reported on two Dutch children with microcephaly, stunted growth immunodeficiency and chromosome instability. Recently Seemanova et al.(Amj. Med Genetics 20:639-648 1985)described 9 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d5cb87acbc8f62077c604973406c345
https://doi.org/10.1203/00006450-198610000-00212
https://doi.org/10.1203/00006450-198610000-00212