Abstract:
:Among 120 meiotic analyses of infertile men there were three cases with a particular meiotic anomaly: low chiasma count at diakinesis and spermatogenic arrest. All clinical findings, hormonal analyses and karyotypes from peripheral blood were normal. Meiotic studies showed that pachytene pairing was complete, but in diakinesis the mean number of chiasmata per cell was significantly lowered, chromosomes were fragmented and univalents could frequently be found. In all three cases azoospermia was the consequence of spermatogenic arrest, which occurred after diakinesis-metaphase I.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Mićić M,Mićić S,Diklić Vdoi
10.1111/j.1399-0004.1982.tb01443.xsubject
Has Abstractpub_date
1982-11-01 00:00:00pages
266-9issue
5eissn
0009-9163issn
1399-0004journal_volume
22pub_type
杂志文章abstract::Steatocystoma Multiplex (S.M.) is an inherited condition characterized by the appearance of cysts during the first or second decade of life. Familial cases have occasionally been reported. We studied 13 patients affected by S.M. from two unrelated families, focusing our attention on HLA, Gm and Km genotypes and on chr...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1989-08-01 00:00:00
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journal_title:Clinical genetics
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更新日期:1994-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:1991-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1978.tb02121.x
更新日期:1978-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2004-12-01 00:00:00
abstract::Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2014-02-01 00:00:00
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abstract::One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1993-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1984-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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更新日期:2001-09-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00587.x
更新日期:1986-09-01 00:00:00
abstract::The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year histo...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2013-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb00357.x
更新日期:1975-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:2020-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1987-05-01 00:00:00
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journal_title:Clinical genetics
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pub_type: 评论,杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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更新日期:2010-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1046/j.0009-9163.2002.00002.x
更新日期:2003-02-01 00:00:00
abstract::This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00467.x
更新日期:1984-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 传,历史文章,杂志文章
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更新日期:2002-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1985-06-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2017-05-01 00:00:00
abstract::Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describe...
journal_title:Clinical genetics
pub_type: 杂志文章,多中心研究
doi:10.1034/j.1399-0004.2000.580107.x
更新日期:2000-07-01 00:00:00
abstract::Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13408
更新日期:2018-10-01 00:00:00
abstract::It is generally presumed that the cystic fibrosis (CF) population is relatively homogeneous, and predominantly of European origin. The complex ethnic make-up observed in the CF patients collected by the North American CF Modifier Gene Consortium has brought this assumption into question, and suggested the potential fo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01502.x
更新日期:2011-02-01 00:00:00