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of 40
pro vyhledávání: '"Hayez-Delatte"'
Autor:
Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, Edwin Reyniers, R. Frank Kooy
Publikováno v:
Human mutation
Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869355eee58e40fa6f3a7daec04d490e
https://pubmed.ncbi.nlm.nih.gov/12325019
https://pubmed.ncbi.nlm.nih.gov/12325019
Publikováno v:
Genetic counseling (Geneva, Switzerland). 9(2)
The 3 affected children from 2 different wedlocks of the mother have been previously described (11). Search by FISH analysis in the mother revealed she is a carrier of balanced translocation of clear terminal G bands of equal sizes of the long arms o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::58a8c77049fcc27fdbbef3edb67e7bf1
https://pubmed.ncbi.nlm.nih.gov/9664205
https://pubmed.ncbi.nlm.nih.gov/9664205
Autor:
M.-J. Tassignon, C. Van Broeckhoven, F. Hayez-Delatte, Jean-Marie Brucher, P. J. Willems, Patrick Evrard, Chantal Ceuterick, J.J. Martin, T. de Barsy, Henri Szliwowski, L. Krols, N. Van Regemorter, H. Smet-Dieleman
Publikováno v:
Acta neuropathologica
We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a716fa772ff362932706988993d4f40e
https://hdl.handle.net/10067/82700151162165141
https://hdl.handle.net/10067/82700151162165141
Autor:
M. Foerster, C. M. Lapiere, E. Damis, E. Vamos, N. Van Regemorter, G. Pierquin, N. Cremer-Perlmutter, J. Bormans, C. Fourneau, Hayez-Delatte
Publikováno v:
Human genetics. 87(5)
Two unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations) suggesting the diagnosis of Larsen syndrome. Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79387dff47f4e67c573c2ab20f9df117
https://pubmed.ncbi.nlm.nih.gov/1916762
https://pubmed.ncbi.nlm.nih.gov/1916762
Autor:
N, Van Regemorter, F, Hayez-Delatte
Publikováno v:
Revue medicale de Bruxelles. 11(6)
1000 cases of genetic counseling have been reviewed. Most patients are sent to the genetic center by gynecologists (68.4%), mostly because of a personal or previous familial history (64%). This previous history concerns mainly congenital malformation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b985c0f2f8417a4963fb3b8d566a82df
https://pubmed.ncbi.nlm.nih.gov/2371466
https://pubmed.ncbi.nlm.nih.gov/2371466
Autor:
N, Van Regemorter, F, Hayez-Delatte
Publikováno v:
Revue medicale de Bruxelles. 11(6)
In the literature dealing with the impact of genetic counsel in the reproduction decision, two aspects are discussed: 1. memorization and appraisal of the recurrence risk, chosen options for family planning, appraisal of genetic counsel by the patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7cc8cd61913da68e1ca51de2540de1d6
https://pubmed.ncbi.nlm.nih.gov/2371467
https://pubmed.ncbi.nlm.nih.gov/2371467
Publikováno v:
Revue medicale de Bruxelles. 11(6)
The authors report the results of chromosomal analyses performed on 6235 amniocenteses and 559 choriocenteses. Whereas the frequencies of chromosomal anomalies observed respectively on amniocenteses and choriocenteses did not differ significantly, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8f0230ba8a127cb4595ae313c019b3a4
https://pubmed.ncbi.nlm.nih.gov/2371469
https://pubmed.ncbi.nlm.nih.gov/2371469
Akademický článek
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Autor:
Pierquin, G., Regemorter, N., Hayez-Delatte, Fourneau, C., Bormans, J., Foerster, M., Damis, E., Cremer-Perlmutter, N., Lapiere, C., Vamos, E.
Publikováno v:
Human Genetics; 1991, Vol. 87 Issue 5, p587-591, 5p
Autor:
F, Hayez-Delatte, W, Feremans
Publikováno v:
Bulletin du cancer. 62(1)
The authors tried to determine a dose-effect relation between the concentration of Bleomycin and the number of chromosomal aberrations "in vitro" in human lymphocytes during 48 h cultures. Concentrations of 1 gamma/ml, 2 gamma/ml, 10 gamma/ml and 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6b358f801ada9141e413c0b7e7e360f0
https://pubmed.ncbi.nlm.nih.gov/56965
https://pubmed.ncbi.nlm.nih.gov/56965