Zobrazeno 1 - 10
of 139
pro vyhledávání: '"H. Von Koskull"'
Autor:
Johanna Schleutker, K. Parto, Robert Winqvist, Veli-Matti Kosma, Anne Kallioniemi, Marketta Kähkönen, Arto Mannermaa, Kristiina Avela, Katri Pylkäs, Satu-Leena Laasanen, Tuomo Mantere, Maria Haanpää, H. Hanenberg, Kristiina Aittomäki, Jaana M. Hartikainen, H. Von Koskull
Publikováno v:
Clinical Genetics. 88:68-73
Mutations in downstream Fanconi anemia (FA) pathway genes, BRCA2, PALB2, BRIP1 and RAD51C, explain part of the hereditary breast cancer susceptibility, but the contribution of other FA genes has remained questionable. Due to FA's rarity, the finding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54cc4593b03c1da93ed18b2e17c8f77d
https://doi.org/10.1111/cge.12447
https://doi.org/10.1111/cge.12447
Publikováno v:
Clinical Genetics. 4:241-251
Five patients showing several stigmata of Down's syndrome and a partial trisomy of chromosome 21 are reported. Three patients with only a moderate degree of mental retardation had an additional deleted chromosome 21; the characteristic dark G-band re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afbeedde74773394492fed7f8ff5eb9c
https://doi.org/10.1111/j.1399-0004.1973.tb01149.x
https://doi.org/10.1111/j.1399-0004.1973.tb01149.x
Autor:
H. von Koskull, R. Salonen
Publikováno v:
European Journal of Human Genetics. 5:69-75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4e26cc9e29b9abe5d4389359b6b441c
https://doi.org/10.1159/000484839
https://doi.org/10.1159/000484839
Publikováno v:
Fetal Diagnosis and Therapy. 9:291-295
The presence of nucleated erythrocytes was studied before and after enrichment with immunomagnetic beads and monoclonal antiglycophorin A (anti-GPA) antibody in the peripheral venous blood of 11 pregnant women at 10-16 weeks of gestation. Nucleated e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b87da56d277e92c95e57e5380465bad
https://doi.org/10.1159/000263950
https://doi.org/10.1159/000263950
Publikováno v:
Clinical genetics. 72(6)
We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain react
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf9d9acc055ec39aa2b0bc1cdc43d82
https://pubmed.ncbi.nlm.nih.gov/17922850
https://pubmed.ncbi.nlm.nih.gov/17922850
Autor:
R, Salonen, U, Turpeinen, L, Kurki, M, Lappalainen, P, Ammälä, V, Hiilesmaa, K, Teramo, H, von Koskull, N, Gahmberg, U H, Stenman
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 113(24)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4527a192c3760cbc17de628b4736eb5c
https://pubmed.ncbi.nlm.nih.gov/10892162
https://pubmed.ncbi.nlm.nih.gov/10892162
Publikováno v:
Histochemistry and cell biology. 105(1)
Previous studies have characterized pp125FAK as a focal adhesion (FA)-associated non-receptor tyrosine kinase. However, there are few data available on the expression and localization of this kinase in tissues. In this study we show that in human tis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc58ed705811a45eea57ff2a0dc653d7
https://pubmed.ncbi.nlm.nih.gov/8824902
https://pubmed.ncbi.nlm.nih.gov/8824902
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 genetics. 91(2)
The locus (IP2) for the hereditary form of incontinentia pigmenti (IP) has been mapped to Xq28 by linkage analysis. We studied three IP families with polymorphic markers in the Xq28 region. In two families we observed recombination between the marker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ef9b20222a43af526713d5d943fda9
https://pubmed.ncbi.nlm.nih.gov/8096494
https://pubmed.ncbi.nlm.nih.gov/8096494