Abstract:
OBJECTIVE:To report a novel mutation found in a family with hand-foot-genital syndrome (HFGS). To characterize the genetic basis of true HFGS versus presence of non-HFGS-related uterovaginal septa. DESIGN:Case-control study. SETTING:Academic medical center. PATIENT(S):The HFGS patients and family members; women with uterine or uterovaginal septa without other sequelae of HFGS. INTERVENTION(S):Sequence analysis of HOXA13 in members of a family with HFGS (3 affected, 1 unaffected); sequence analysis of HOXA13 in biopsy samples obtained from 17 non-HFGS patients with idiopathic uterine or uterovaginal septa and in 11 normal controls. MAIN OUTCOME MEASURE(S):Presence or absence of mutations of HOXA13. RESULT(S):Affected members of a family with HFGS showed a novel expansion of the third polyalanine tract of HOXA13, inserting 10 alanines in-frame. None of the patients with idiopathic uterovaginal septa displayed mutations of HOXA13. CONCLUSION(S):The cause of uterovaginal septa without hand and foot symptoms differs from true HFGS. When patients present with septa, it is not necessary to subject them to roentgenograms of the distal limbs or to sequence analysis of HOXA13 unless they show clear signs of the other sequelae characteristic of true HFGS.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Jorgensen EM,Ruman JI,Doherty L,Taylor HSdoi
10.1016/j.fertnstert.2009.05.057subject
Has Abstractpub_date
2010-09-01 00:00:00pages
1235-1238issue
4eissn
0015-0282issn
1556-5653pii
S0015-0282(09)01205-9journal_volume
94pub_type
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journal_title:Fertility and sterility
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journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2007.05.015
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:To examine the influence of hormone-related factors on the risk of invasive epithelial ovarian cancer (ovarian cancer). DESIGN:Population-based case-control study using in-person interviews. SETTING:Academic department of preventive medicine. PATIENT(S):Four hundred seventy-seven ovarian cancer patients an...
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pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.03.013
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abstract::The initial experience with the use of a portable infusion pump for the delivery of human menopausal gonadotropins (hMG) in the therapy of ovulation dysfunction of women who failed to conceive following (1) either clomiphene citrate (five patients with polycystic ovary syndrome) or danazol (three patients with mild en...
journal_title:Fertility and sterility
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doi:10.1016/s0015-0282(16)47352-8
更新日期:1983-10-01 00:00:00
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doi:10.1016/j.fertnstert.2014.06.044
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVE:To examine the relation between uterine blood flow and endometrial thickness on transvaginal Doppler ultrasonography, serum E2 and progesterone levels, and the histologic dating of an endometrial biopsy specimen obtained in the midluteal phase of a spontaneous cycle. DESIGN:Prospective clinical study. SETTI...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(99)00455-0
更新日期:2000-01-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章
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journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2003.06.030
更新日期:2004-02-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 评论,杂志文章
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更新日期:2012-11-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.10.051
更新日期:2005-05-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究
doi:10.1016/j.fertnstert.2013.06.043
更新日期:2013-11-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章,评审
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更新日期:2014-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.04.038
更新日期:2004-10-01 00:00:00
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journal_title:Fertility and sterility
pub_type:
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更新日期:2019-07-01 00:00:00
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pub_type: 杂志文章,meta分析
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更新日期:2019-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.08.041
更新日期:2006-03-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.10.059
更新日期:2010-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.fertnstert.2012.03.054
更新日期:2012-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:2011-06-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:10.1016/j.fertnstert.2004.11.024
更新日期:2005-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.fertnstert.2009.04.045
更新日期:2010-03-15 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
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pub_type: 杂志文章
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更新日期:1980-01-01 00:00:00
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journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究
doi:10.1016/j.fertnstert.2007.10.056
更新日期:2008-12-01 00:00:00
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更新日期:2020-12-01 00:00:00
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