Preimplantation genetic diagnosis: twenty years of practice

Autor: Iwarsson, E., Malmgren, H., Blennow, E.

Publikováno v: In Seminars in Fetal and Neonatal Medicine April 2011 16(2):74-80

An excess of chromosome 1 breakpoints in male infertility

Autor: Bache, I., Van Assche, E., Cingoz, S., Bugge, M., Tümer, Z., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondum-Nielsen, K., Bruun-Petersen, Gert, Croquette, M.F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H.C., Duprez, L., Ferguson-Smith, M., FitzPatrick, D.R., Grace, E., Hansmann, I., Hultén, M., Jensen, P.K.A., Jonveaux, P., Kristoffersson, U., Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, Kirsten

Publikováno v: Bache, I, Van Assche, E, Cingoz, S, Bugge, M, Tümer, Z, Hjorth, M, Lundsteen, C, Lespinasse, J, Winther, K, Niebuhr, A, Kalscheuer, V, Liebaers, I, Bonduelle, M, Tournaye, H, Ayuso, C, Barbi, G, Blennow, E, Bourrouillou, G, Brondum-Nielsen, K, Bruun-Petersen, G, Croquette, M F, Dahoun, S, Dallapiccola, B, Davison, V, Delobel, B, Duba, H C, Duprez, L, Ferguson-Smith, M, FitzPatrick, D R, Grace, E, Hansmann, I, Hultén, M, Jensen, P K A, Jonveaux, P, Kristoffersson, U, Lopez-Pajares, I, McGowan-Jordan, J, Murken, J, Orera, M, Parkin, T, Passarge, E, Ramos, C & Rasmussen, K 2004, ' An excess of chromosome 1 breakpoints in male infertility. ', European Journal of Human Genetics, vol. 12, pp. 993-1000 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::5a374fae6724147fb3cbe4c18c19b89e
https://portal.findresearcher.sdu.dk/da/publications/14fe6160-f198-11db-821c-000ea68e967b

Molecular cytogenetic characterization and origin of two de novo duplication 9p cases

Autor: Tsezou, A Kitsiou, S Galla, A Petersen, MB Karadima, G and Syrrou, M Sahlen, S Blennow, E

We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::4369240e19c2c743411d72c19309b997
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053141

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families

Autor: Vorechovsky, I., Blennow, E., Magnus Nordenskjöld, Webster, Adb, Hammarstrom, L.

Publikováno v: Europe PubMed Central
Karolinska Institutet

Previous reports of an association between constitutional chromosome 18 abnormalities and low levels of IgA suggested that this chromosome contains a susceptibility locus for selective IgA deficiency (IgAD), the most frequent Ig deficiency in humans.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e31ed1b4b1e0f6ae5b1fd1ef88bea2ea
https://pubmed.ncbi.nlm.nih.gov/10438966

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