Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Nina Gahmberg"'
Publikováno v:
American Journal of Medical Genetics. 86:416-419
A 3-year-old girl has a de novo deletion of 11q21-22.3. The patient was studied because of minor anomalies, disproportionate short stature, and developmental delay. The deletion was first detected by conventional cytogenetic analysis and defined furt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc77eeca9b7824fd76993a7cdf52441
https://doi.org/10.1002/(sici)1096-8628(19991029)86:5<416::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991029)86:5<416::aid-ajmg4>3.0.co
Autor:
Harriet von Koskull, Nina Gahmberg
Publikováno v:
Prenatal Diagnosis. 15:149-154
Different types of fetal nucleated cells can be found in maternal blood, providing the possibility of non-invasive prenatal diagnosis. For this purpose, we have studied fetal erythroblasts. We discovered that haemoglobin-containing cells treated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::217156148ec56d9ae53c3b0130264b3f
https://doi.org/10.1002/pd.1970150207
https://doi.org/10.1002/pd.1970150207
Autor:
Kari Ylinen, Malta Wessman, Nina Gahmberg, Harriet von Koskull, Anna Slunga-Tallberg, Sakari Knuutila
Publikováno v:
Annals of the New York Academy of Sciences. 731:226-228
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8efb5bc377777eb46d42ee4c6b40849e
https://doi.org/10.1111/j.1749-6632.1994.tb55773.x
https://doi.org/10.1111/j.1749-6632.1994.tb55773.x
Autor:
Vilho Hiilesmaa, Mari Lappalainen, Harriet von Koskull, Ulf-Håkan Stenman, Kari Teramo, Nina Gahmberg, Riitta Salonen, Laina Kurki, Pirkko Ämmälä, Ursula Turpeinen
Publikováno v:
Acta obstetricia et gynecologica Scandinavica. 76(9)
The favorable attitude among the public towards prenatal diagnostics in Finland allowed us to start a trial on population basis when screening for Down's syndrome by maternal serum markers and age was introduced.Screening by maternal serum markers fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4546238ad2a2d94c0f064227a22351
https://pubmed.ncbi.nlm.nih.gov/9351405
https://pubmed.ncbi.nlm.nih.gov/9351405
Publikováno v:
American journal of medical genetics. 51(4)
Three hundred eighty-seven individuals from 32 Finnish fragile X families were studied, using the probe StB12.3 [Oberle et al., 1991: Science 252:1097-1102] for the FRAXA locus, to reveal length variations in the FMR-1 gene. As expected, the affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66df169168a1978ebfd7ed2294da920d
https://pubmed.ncbi.nlm.nih.gov/7943025
https://pubmed.ncbi.nlm.nih.gov/7943025
Publikováno v:
Human Reproduction. 12:307-308
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc5c1da102fee73471dc2ca6118665ce
https://doi.org/10.1093/humrep/12.suppl_2.307-a
https://doi.org/10.1093/humrep/12.suppl_2.307-a
Autor:
Nina Gahmberg, Leena Peltonen
Publikováno v:
Cell Biology International Reports. 11:547-555
The transport of the secretory proteins fibronectin (FN) and procollagen (PC) was studied in cells infected with the temperaturesensitive mutant ts 12 of Uukuniemi virus. Using pulse-labeling followed by immunoprecipitation and SDS-PAGE (FN), or by d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf01fc3d85fdb612d69e323b4b33a6a
https://doi.org/10.1016/0309-1651(87)90017-8
https://doi.org/10.1016/0309-1651(87)90017-8
Autor:
K. Simola, J. Murros, Leila Pajunen, P. Simola, Nina Gahmberg, A. de la Chapelle, Seppo Sarna, Sakari Knuutila, C. Lundqvist
Publikováno v:
Human Genetics. 52:157-167
This paper reports an attempt to determine whether the short arm of one of the X chromosomes in XX males is longer than normal. In a blind study comparing coded photomicrographs of 15 G-banded mitoses from each of five XX males and five control femal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8604d46045f5d26b5fcae1f1c7726e9c
https://doi.org/10.1007/bf00271568
https://doi.org/10.1007/bf00271568
Publikováno v:
Hereditas. 92(2)
Ag-staining of the nucelolus organizers (NOR) was studied in the acrocentric chromosomes identified by Q-banding in lymphocyte cultures from nine members of two families wit balanced D;D translocations. The D;D translocations were dicentric, t(13;14)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76912986c6c370ae0f6fe946c1d7e0a3
https://pubmed.ncbi.nlm.nih.gov/7390867
https://pubmed.ncbi.nlm.nih.gov/7390867
Publikováno v:
Prenatal diagnosis. 9(6)
Trisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::493f24d2b4130fbae057acabc41db98d
https://pubmed.ncbi.nlm.nih.gov/2762235
https://pubmed.ncbi.nlm.nih.gov/2762235