Zobrazeno 1 - 10
of 11
pro vyhledávání: '"W L, Gouw"'
Publikováno v:
Clinical Genetics. 14:284-284
The use of a combination of transmitted light and epiluminescence after silver and fluorescent staining of chromosome preparations makes it possible to achieve simultaneous visualization of silver-stained NORs and fluorescent chromosomes. This techni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79d5ce302b9cdb837c38e4f0a5592c9f
https://doi.org/10.1111/j.1399-0004.1978.tb02155.x
https://doi.org/10.1111/j.1399-0004.1978.tb02155.x
Publikováno v:
International Journal of Epidemiology, 7(4), 323-330. Oxford University Press
To assess the value of detecting albumin in meconium as a screening procedure for cystic fibrosis [CF] 68,000 meconium samples were examined by BM Meconium Test, single radial immunodiffusion and benzidine reaction. The specificity and sensitivity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f30dba2bc5efd7134c97125946b62659
https://doi.org/10.1093/ije/7.4.323
https://doi.org/10.1093/ije/7.4.323
Publikováno v:
Humangenetik, 19(1), 123-126
In a male infant with multiple congenital malformations a deletion of the long arm of chromosome No. 18 was identified by means of the A.S.G. technique. His mother and sister were balanced heterozygotes with the karyotypes 46,XX,t(6p+;18q-).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fed0b1c18a3c7e3a14e4f9468aea0c7
https://research.rug.nl/en/publications/4fec687c-e6a2-41c1-aaef-0213fb6062aa
https://research.rug.nl/en/publications/4fec687c-e6a2-41c1-aaef-0213fb6062aa
Publikováno v:
Human Genetics. 16:251-259
In a mentally retarded boy without gross malformations, karyotype analysis showed a partial 4p trisomy. His phenotypical normal father is a carrier of the balanced translocation t(4p-; 14p+ or 15p+).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba693bcc2b692ee41d44e823b4b8e02d
https://doi.org/10.1007/bf00273472
https://doi.org/10.1007/bf00273472
Publikováno v:
HUMAN GENETICS, 57(1), 28-30. SPRINGER
Distamycin A/DAPI staining and sequential C-banding of human lymphocyte chromosomes reveals the regular occurrence of differentially staining subfractions of chromosome 9 constitutive heterochromatin. These subfractions are regionally organized as tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1af37e43a326224f33c4072876cd1cc3
https://doi.org/10.1007/bf00271162
https://doi.org/10.1007/bf00271162
Publikováno v:
HUMAN GENETICS, 44(2), 173-180. SPRINGER
The use of a combination of transmitted light and epiluminescence after silver and fluorescent staining of chromosome preparations makes it possible to achieve simultaneous visualization of silver-stained NORs and flourescent chromosomes. This techni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94e7008584cf151735754f9808c3b52b
https://research.rug.nl/en/publications/18f006e7-4254-4ee3-8e26-b3f910235936
https://research.rug.nl/en/publications/18f006e7-4254-4ee3-8e26-b3f910235936
Autor:
J. M. M. Borkent-Ypma, Charles H.C.M. Buys, J. A. M. Blenkers-Platter, G. J. P. A. Anders, W. L. Gouw
Publikováno v:
HUMAN GENETICS, 52(1), 133-138. SPRINGER
Using DAPI staining after pretreatment with distamycin A we detected a familial deficiency of chromosome 16 heterochromatin. A distinct positively staining band, however, was seen after C-banding. Thus, by using these different heterochromatin staini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a97b4d7e5c0fad667ac12d045420050
https://pubmed.ncbi.nlm.nih.gov/527974
https://pubmed.ncbi.nlm.nih.gov/527974
Publikováno v:
HUMAN GENETICS, 49(2), 129-132. SPRINGER
In cultured amniotic fluid cells a mediocentric chromosome 9 appeared to be completely deficient in constitutive heterochromatin when stained with distamycin A and DAPI. In addition, this deficient chromosome was found in a blood cell culture from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17a6a2a2dce415de50c0a98fe290a907
https://research.rug.nl/en/publications/2617c0aa-bf39-434e-a565-0d0969ec7de1
https://research.rug.nl/en/publications/2617c0aa-bf39-434e-a565-0d0969ec7de1
Autor:
G J, Anders, W L, Gouw
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 110(43)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::481c7571e6d262d3ad22613f2751f71c
https://pubmed.ncbi.nlm.nih.gov/4962663
https://pubmed.ncbi.nlm.nih.gov/4962663
Publikováno v:
Schweizerische medizinische Wochenschrift. 90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb19420965c006eebb32ba3f16fbbeec
https://pubmed.ncbi.nlm.nih.gov/13712322
https://pubmed.ncbi.nlm.nih.gov/13712322