Sökning: onr:"swepub:oai:lup.lub.lu.se:5584fee5-487e-4f07-8914-959c792e2b72" > An excess of chromo...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 05475naa a2201093 4500 | |
001 | oai:lup.lub.lu.se:5584fee5-487e-4f07-8914-959c792e2b72 | |
003 | SwePub | |
008 | 160401s2004 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:110659376 | |
024 | 7 | a https://lup.lub.lu.se/record/11306542 URI |
024 | 7 | a https://doi.org/10.1038/sj.ejhg.52012632 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1106593762 URI |
040 | a (SwePub)lud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Bache, Iben4 aut |
245 | 1 0 | a An excess of chromosome 1 breakpoints in male infertility. |
264 | c 2004-09-15 | |
264 | 1 | b Springer Science and Business Media LLC,c 2004 |
520 | a In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a male infertility | |
653 | a chromosome 1 | |
653 | a translocation | |
653 | a inversion | |
653 | a autosomal loci | |
700 | 1 | a Van Assche, Elvire4 aut |
700 | 1 | a Cingoz, Sultan4 aut |
700 | 1 | a Bugge, Merete4 aut |
700 | 1 | a Tümer, Zeynep4 aut |
700 | 1 | a Hjorth, Mads4 aut |
700 | 1 | a Lundsteen, Claes4 aut |
700 | 1 | a Lespinasse, James4 aut |
700 | 1 | a Winther, Kirsten4 aut |
700 | 1 | a Niebuhr, Anita4 aut |
700 | 1 | a Kalscheuer, Vera4 aut |
700 | 1 | a Liebaers, Inge4 aut |
700 | 1 | a Bonduelle, Maryse4 aut |
700 | 1 | a Tournaye, Herman4 aut |
700 | 1 | a Ayuso, Carmen4 aut |
700 | 1 | a Barbi, Gotthold4 aut |
700 | 1 | a Blennow, Elisabethu Karolinska Institutet4 aut |
700 | 1 | a Bourrouillou, Georges4 aut |
700 | 1 | a Brondum-Nielsen, Karen4 aut |
700 | 1 | a Bruun-Petersen, Gert4 aut |
700 | 1 | a Croquette, Marie-Francoise4 aut |
700 | 1 | a Dahoun, Sophie4 aut |
700 | 1 | a Dallapiccola, Bruno4 aut |
700 | 1 | a Davison, Val4 aut |
700 | 1 | a Delobel, Bruno4 aut |
700 | 1 | a Duba, Hans-Christoph4 aut |
700 | 1 | a Duprez, Laurence4 aut |
700 | 1 | a Ferguson-Smith, Malcolm4 aut |
700 | 1 | a FitzPatrick, David R4 aut |
700 | 1 | a Grace, Elizabeth4 aut |
700 | 1 | a Hansmann, Ingo4 aut |
700 | 1 | a Hultén, Maj4 aut |
700 | 1 | a Jensen, Peter KA4 aut |
700 | 1 | a Jonveaux, Philippe4 aut |
700 | 1 | a Kristoffersson, Ulfu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-ukr |
700 | 1 | a Lopez-Pajares, Isidora4 aut |
700 | 1 | a McGowan-Jordan, Jean4 aut |
700 | 1 | a Murken, Jan4 aut |
700 | 1 | a Orera, Maria4 aut |
700 | 1 | a Parkin, Tony4 aut |
700 | 1 | a Passarge, Eberhard4 aut |
700 | 1 | a Ramos, Carmen4 aut |
700 | 1 | a Rasmussen, Kirsten4 aut |
700 | 1 | a Schempp, Werner4 aut |
700 | 1 | a Schubert, Regine4 aut |
700 | 1 | a Schwinger, Eberhard4 aut |
700 | 1 | a Shabtai, Fiorella4 aut |
700 | 1 | a Smith, Kim4 aut |
700 | 1 | a Stallings, Raymond4 aut |
700 | 1 | a Stefanova, Margarita4 aut |
700 | 1 | a Tranebjerg, Lisbeth4 aut |
700 | 1 | a Turleau, Catherine4 aut |
700 | 1 | a van der Hagen, Carl Birger4 aut |
700 | 1 | a Vekemans, Michel4 aut |
700 | 1 | a Kokalj Vokac, Nadja4 aut |
700 | 1 | a Wagner, Klaus4 aut |
700 | 1 | a Wahlstroem, Jan4 aut |
700 | 1 | a Zelante, Leopoldo4 aut |
700 | 1 | a Tommerup, Niels4 aut |
710 | 2 | a Karolinska Institutetb Avdelningen för klinisk genetik4 org |
773 | 0 | t European Journal of Human Geneticsd : Springer Science and Business Media LLCg 12:12, s. 993-1000q 12:12<993-1000x 1476-5438x 1018-4813 |
856 | 4 | u http://dx.doi.org/10.1038/sj.ejhg.5201263x freey FULLTEXT |
856 | 4 | u https://www.nature.com/articles/5201263.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/1130654 |
856 | 4 8 | u https://doi.org/10.1038/sj.ejhg.5201263 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:110659376 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.