An excess of chromosome 1 breakpoints in male infertility.

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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was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia.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

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Av författaren/redakt...: Bache, Iben; Van Assche, Elvi ...; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; visa fler...; Lundsteen, Claes; Lespinasse, Jame ...; Winther, Kirsten; Niebuhr, Anita; Kalscheuer, Vera; Liebaers, Inge; Bonduelle, Marys ...; Tournaye, Herman; Ayuso, Carmen; Barbi, Gotthold; Blennow, Elisabe ...; Bourrouillou, Ge ...; Brondum-Nielsen, ...; Bruun-Petersen, ...; Croquette, Marie ...; Dahoun, Sophie; Dallapiccola, Br ...; Davison, Val; Delobel, Bruno; Duba, Hans-Chris ...; Duprez, Laurence; Ferguson-Smith, ...; FitzPatrick, Dav ...; Grace, Elizabeth; Hansmann, Ingo; Hultén, Maj; Jensen, Peter KA; Jonveaux, Philip ...; Kristoffersson, ...; Lopez-Pajares, I ...; McGowan-Jordan, ...; Murken, Jan; Orera, Maria; Parkin, Tony; Passarge, Eberha ...; Ramos, Carmen; Rasmussen, Kirst ...; Schempp, Werner; Schubert, Regine; Schwinger, Eberh ...; Shabtai, Fiorell ...; Smith, Kim; Stallings, Raymo ...; Stefanova, Marga ...; Tranebjerg, Lisb ...; Turleau, Catheri ...; van der Hagen, C ...; Vekemans, Michel; Kokalj Vokac, Na ...; Wagner, Klaus; Wahlstroem, Jan; Zelante, Leopold ...; Tommerup, Niels; visa färre...

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